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July 31, 2003
New Approaches to Drug Development
This is a sign of good things to come.
The New York Times reports that three universities have joined with a non-profit research institute to form an organization called PharmaStart. The goal is to get promising medical treatments out of the science labs and into human testing. This is very similar to what HDDW (Huntington’s Disease Drug Works) is proposing.
For the universities this is an opportunity to take their research and generate revenue from patents. For research companies this saves them time and money as they can now focus on bringing promising treatments to market instead of having to develop them from scratch.
The New York Times article briefly discusses Harvard’s Laboratory for Drug Discovery in Neurodegeneration. This program is using cell arrays to identify potential drugs for the treatment of diseases such as Huntington’s Disease and ALS. As mentioned here earlier, Duke University entered into a development agreement with Provid Pharmaceuticals to further develop potentials drugs they found promising.
For those of you with connections to research universities this is an opportunity to help the university and HD research. Research universities are continually looking for new income streams. They are well suited to doing the early screening research using gene arrays, cell arrays and mice studies. By taking the promising research and setting up licensing/development agreements with the pharmaceutical and genetic companies, universities could earn millions in patent royalties.
Huntington’s Disease is an excellent target for research. It’s a single-gene disease which significantly simplifies the research process as compared to multiple-gene diseases. It’s an amyloid (protein clusters) disease so a resulting patent could potentially be extended to many other diseases such as Alzheimer’s, Parkinson’s, ALS, and CJD. There is a lot of fresh new science about how the Huntington protein interacts with neural cells and how certain classes of chemicals interact with the protein clusters – the type of information that isn’t yet known in some other diseases.
Any promising treatments for HD will get fast-tracked by the FDA providing a faster return on investment. Also, the federal government has recently increased funding for rare/orphan diseases and has money available for human trials (based on statements made by NIH) for these diseases. Due to these reasons (and others), Huntington’s Disease is an excellent choice for researchers.
Posted by Dave at 09:09 AM | Comments (0) | TrackBack
July 30, 2003
Replacing Lost Neurons
Huntington's Disease causes the early death of neural cells. One possible treatment of Huntington's would be to replenish these lost cells. One avenue of research in this area has been Stem Cell research where doctors surgically implant stem cells into the affected areas. So far Stem Cell implantation has had a questionable benefit due to the invasive nature and the associated risks of the procedure.
Now researchers at Cold Spring Harbor Laboratory have discovered that nitric oxide is a regulator of neural cell production in the brain. When blocking nitric oxide production in the brain, researchers found dramatic increases in neural cell production. In addition Nitric oxide is a free radical that may be a significant cause of neural cell death.
Blocking nitric oxide production could become a safer, less invasive option than stem cells for replenishing neural cells that have been lost in HD patients. This could lead to the same (or better) benefits expected of stem cell implantation but without the risks involved in injecting foreign cells via open scull surgery.
Posted by Dave at 06:50 PM | Comments (0) | TrackBack
July 29, 2003
HD Murder Suspect Found Dead
Gary Culp, age 56, was found dead Monday in a Missouri hotel in an apparent suicide. Culp was believed to be responsible for the death of his wife last week in West Virgina.
Culp was diagnosed with Huntington's Disease four years ago. Published reports indicate that at the time of his death he had significant movement and was increasingly depressed.
As mentioned before, the rate of suicide in pHD's is 8-12 times that national average. Yet, these numbers are not counted when determining how many people die each year from HD. There are several medications that are effective in treating depression and it is believed that they may even have a 'protective' benefit to neural cells. It's vitally important that pHD's with symptoms of depression receive the proper medication.
Posted by Dave at 10:16 AM | Comments (0) | TrackBack
July 28, 2003
Hold The Mayo - HD Researcher's Study Golf
The world famous Mayo Clinic has been involved in Huntington's Disease research for several years. Their contributions to the PHAROS project (an HD observational study) and other work has been valuable. However, there has been precious few published HD studies coming out of the Mayo Clinic in the last few years.
We may now know one of the reasons. It appears that the Mayo Clinic has been using Huntington's Disease researchers to investigate why golfers have the 'yips'. The Mayo Clinic has been studying golfing for years and this last week ran a golfing tournament in order to further their research on why golfers blow putts. No, I am not making this up.
So at a time when we are in desperate need for more HD research. When other less prestigious research organizations are making surprising gains in the search for a cure, the Mayo clinic is taking the time of Huntington's (and Parkinson's also) researchers to study movement in golfing. Even if none of the money is directly or indirectly coming from HDSA, HDF, or from some other HD funding it still pulls the time and energy of HD experts away from the important research we need in the HD community.
This is outrageous and why isn't anybody in the HD community complaining about this? Is part of our money paying the researchers salaries?
Posted by Dave at 12:25 PM | Comments (3) | TrackBack
July 27, 2003
Day Off
No HD news today. I took a day off to visit Rocky Mountain National Park. Here's a picture for your enjoyment!
Posted by Dave at 11:27 PM | Comments (0) | TrackBack
July 26, 2003
Generations of Hope Ranch Camp Update
Some great new from the fine people at the Generation's of Hope Ranch Camp. They will be starting a support phone center specifically for families dealing with Huntington's Disease. Once this is up and running, HD families will finally have an 800 number they call to get support with HD issues.
For those who haven't didn't catch the earlier article on the camp, it is a non-profit operation where families with Huntington's Disease can relax and get some emotional healing. The camp is located in area called the "Little Switzerland of Oregon" - Wallowa County. Patterned after a similar camp in New Zealand, this is a great resource for our community!
For more information on this wonderful organization be sure to visit their website. If you would like to help out this wonderful cause, they are now selling another beautiful photograph. This 8x10 woodland scene was taken near the camp and is matted and framed in barn wood by a local wood worker. Click here for more information on this beautiful numbered and signed print.
Posted by Dave at 08:29 AM | Comments (0) | TrackBack
July 25, 2003
Huntington’s Disease Vaccine
On the surface it doesn’t seem possible. How can a vaccine ‘cure’ Huntington’s, a genetic disease? Actually its looking increasingly possible that a vaccine can be developed that would effectively treat Huntington’s Disease. Not only that, they may eventually be able to develop one vaccine that could treat HD, Parkinson’s, Alzheimer’s, Type II diabetes, Mad Cow Disease and other diseases related to protein amyloid’s/oligomers (clumps). In the more immediate future, it is more likely that vaccines that are developed will be disease-specific.
A vaccine works by inducing the body’s own defense system, antibodies, to attack the misformed protein clumps. One HD vaccine has been tested in mice and while they saw some improvement in one non-neurological measurement (pancreas cells), they did not see a neurological change. Nevertheless, they’ve shown that it is feasible to use a vaccine to treat Huntington’s. Now they will try to develop other vaccines that will target the protein clumps that develop in the brain cells due to HD.
When are we likely to see a working HD vaccine approved for humans? It will be several years from now. They still have to formulate the right vaccine and then it will have to carefully go through human testing. Other vaccines for Alzheimer’s and Multiple Sclerosis have initially looked promising only to later find dangerous side effects. It will probably take at least 8-10 years for an HD vaccine to become available.
What we learn about vaccinating HD will benefit vaccination research for many other diseases just as we are benefiting from the research being done for Alzheimer’s and Multiple Sclerosis vaccinations.
Vaccination is one of several treatments that are being developed for Huntington’s Disease. While there is currently no effective treatment for HD… we are just a few years away from not only having a treatment, we may have a choice in treatments. This is just one example of the many advances in medicine we are going to see in the next several years.
Posted by Dave at 11:12 AM | Comments (0) | TrackBack
July 24, 2003
Man With HD Is Murder Suspect
Last weekend, a Kentucky woman was murdered and the prime suspect is her missing husband. The husband was diagnosed with Huntington’s Disease four years ago and had recently become increasingly depressed.
I know many people reading this will wish that this story was not posted here. There is the very real fear that others reading this will then believe that all people with Huntington’s Disease are dangerous. Those of us within the community of course know that symptoms vary widely from person to person and that many pHD’s never have significant problems with anger or depression.
But we also need to be honest about the effects of Huntington’s Disease. There are many pHD’s that do have difficulties with anger and depression. One of the dark secrets in our community is the number of people (male and female) who are physically and emotionally abused by their HD spouse or parent. It’s ignored and forgiven because “they aren’t normally like that” and “it’s not them it’s the disease”. While these statements are true, it is also behavior that cannot be ignored and must be addressed.
Anger and irritability are common symptoms of depression and they can usually be effectively treated with the proper medication. If your spouse is currently on an anti-depressant or anti-psychotic medication and they are still exhibiting these symptoms you should get them to their neurologist as soon as possible so that their medication can adjusted.
Remember, a person with HD is 8-12 times more likely to commit suicide than somebody without the disease. This is because of how the disease alters the chemistry in the brain and this can be treated with the proper medications. Never ignore any symptoms of depression.
For more information on the murder, you can read about it here.
UPDATE: The suspect has since been found dead in Missouri in an apparent suicide. Click here for more info.
Posted by Dave at 09:07 AM | Comments (0) | TrackBack
July 23, 2003
Handling The Rapid Gains in HD Research
Dr. Gillian Bates and Dr. Emma Hockly of King's College have written another review, this time for the medical journal ‘Current Opinion in Neurology’. It would be hard to understate the importance of Dr. Bates and the regular reviews she writes on Huntington’s Disease research.
In this review they comment how the use of live research tools such as yeast, worms, fruit flies, and mice along with the very rapidly developing understanding of HD at the cellular level is producing a significant number of potential therapies for Huntington’s Disease. The doctors point out that there is a limited amount of HD patients and resources to conduct human trials and that it is important that adequate animal testing is done to ensure that only the most-promising therapies go to human trials.
In a very short time we have gone from having virtually no potential therapies to potentially having more than we can possibly test in humans. This is very good news and one of the best kinds of problems we can have in research. Here’s the abstract:
Curr Opin Neurol. 2003 Aug;16(4):465-70.
Experimental therapeutics in Huntington's disease: are models useful for therapeutic trials?
Bates GP, Hockly E.
PURPOSE OF REVIEW Research conducted over the past 10 years has uncovered molecular mechanisms that are likely to be important in the early stages of Huntington's disease pathogenesis. This review summarizes the resources and strategies that are in place in order to exploit these new findings and use them to develop novel Huntington's disease therapeutics. The role that disease models will play in this process is discussed.
RECENT FINDINGS A wide variety of models of Huntington's disease have been developed including yeast, Caenorhabditis elegans, Drosophila melanogaster and mouse. These can be developed as screening assays for the identification of chemical compounds that show beneficial effects against a specific phenotype and for the cross validation of potential therapeutics. The first compounds arising through this drug development pipeline have been reported. Similarly, the preclinical screening of compounds in mouse models is being developed in a coordinated manner.
SUMMARY Our understanding of the molecular basis of Huntington's disease is increasing at an exponential rate. Over the next few years an increasing number of potential therapeutic compounds will have been identified. It will only be possible to take a small number of these through to phase III clinical trials. The challenge will be to use the in-vivo models of Huntington's disease to best predict which of these compounds should be pursued in the clinic, to avoid depleting the patient population willing to enter into trials, and demoralizing them by conducting repeated unsuccessful trials.
Posted by Dave at 08:44 AM | Comments (0) | TrackBack
July 22, 2003
Lawn Mowers For HD
Life can get a little serious at times in the HD community. That’s why it’s a pleasure to read about people having fun while raising money for Huntington’s Disease research. The Grand Rapids Press has this wonderful story about a Lawn Mower race that was held as a fundraiser last weekend.
There is actually a Michigan Lawn Mower Racing Association and three dozen racer’s competed at the Sparta Town and Country Fair. These machines can go over 40 miles per hour and have such serious names as Lawnbrigini, Mowcedes, Prograsstinator, and my favorite – Turfinator.
The event was organized with the help of Donna and Jim Mikula. Jim’s father passed away from Huntington’s and he has several brothers and sisters who have the disease. Jim’s mother, Helen, collected entrance fees and also handed out brochures on Huntington’s Disease.
You may be asking yourself where they got this original idea for fundraising. The family own’s a business, Four Seasons Yard & Sport, that sells lawn mowers. One of the sons, Jayson Mikula is a top-ranked lawn mower racer. One of his racing mowers will go 70 miles per hour! Jayson will be marrying his fiancée in August and for their honeymoon they will be going to a national competition in Ohio.
This is a great example of what anybody can do with a little effort and time. If you would like to see more HD research or more being done for HD families, you do your own fundraiser. The easiest way to get started is to find something you enjoy or are knowledgeable about. You can run an event that sells tickets like this one, run a competition with entrance fees and donations like running or a hoop-a-thon, or you can sell items to raise money. This can be a lot of work but it can also be a lot of fun. If you don’t have the time or energy, donate what time you can to somebody else’s fundraising. These efforts are great, not only for fundraising but, for raising awareness about Huntington's Disease.
You can read the article here (may not be available for long).
Posted by Dave at 09:10 AM | Comments (1) | TrackBack
July 21, 2003
Creatine - Part Deux
Dr. LaVonne Goodman of HDDW, makes some excellent points about the Creatine study in a new article posted on HD Lighthouse.
She mentions some limitations of small studies that I did not address in my earlier post on creatine. Here are some examples...
Non-compliance Bias: study subjects who aren't benefiting are more likely to drop out of a study, whereas those who are benefiting are more likely to stick with the study. Since study results only cover those who've completed the program this makes the results look better than they really are.
Selection Bias: If the participants aren't selected at random and/or the study participants aren't statistically similar to the larger population, then the final results aren't going to be as accurate.
Here’s an example of selection bias: There once was a small study that used men who had low testosterone levels and low levels of zinc and/or magnesium. The researchers then gave the men zinc and magnesium supplements to see if their testosterone levels rose, they did. Based on the study results, some supplement companies started marketing selling zinc and magnesium supplements to men as a testosterone booster claiming big benefits as proven in a “medical study”. However, these supplements generally didn't work as advertised because most men have normal zinc and magnesium levels and didn’t gain anything by taking the supplements.
Also in the article, Dr. Goodman does an interesting analysis of the results. She uses a statistical tool, Binomial Distribution, to determine the odds of these results happening at random (with all other things being equal). Her calculations determined that the chances of these results being random (creatine not really helping) as only 1 in 1000. Actually, using this statistical method the odds are probably even higher. In doing the calculation, it appears that Dr. Goodman used a very conservative assumption that each participant had, at random, a 50% chance of not having a measurable decline after a year. I would argue that, all things being equal, each participant had a smaller chance of not showing a measurable decline.
In reality, not all things are equal. Since this was a non-random, open-label study the odds of these results being due to randomness (or factors other than creatine) are higher that what a Binomial Distribution analysis might suggest. Nevertheless, these results are HIGHLY encouraging and it would be wise for every at-risk and pHD to talk with their neurologist about adding creatine to their regimen. It’s a relatively safe supplement that costs less than 35 cents a day to take. That’s cheap insurance.
Be sure to read Dr. Goodman’s Article.
Posted by Dave at 08:07 AM | Comments (0) | TrackBack
July 20, 2003
Live Shark Cell Therapy
When faced with an incurable disease such as Huntington’s, it’s normal to search for potential cures in unlikely places. When there is ‘nothing to lose’ we often grasp at anything that promises even a tiny chance of success. Honed over thousands of years, our survival instinct is strong. Unfortunately, there are unscrupulous people out there who understand this phenomenon all too well and use it to make themselves rich, even if it means hurting others to do it.
In the HD community, we are preyed upon by con artists with doctor’s diplomas who pretend to want to help us but who are only interested in parting with our money. The biggest and most dangerous of these scam artists are the one’s offering ‘Live Shark Cell Therapy’. They make bold statements about their ‘treatment’ while using medical terminology in such a way that it sounds convincing to anyone who doesn’t have an extensive knowledge of medicine. A white coat, a medical diploma, big impressive words, imagined conspiracies, and the understanding of the natural ups and downs of a disease can be used to provide the illusion of a cure. It is all that is needed to make a con artist a millionaire.
In the case of the ‘Live Cell Therapy’, this con was started in the early 1930’s when it was created by a Swiss doctor, Paul Niehans. A marketing genius, he started a clinic in Switzerland that is still bringing in millions of dollars. By the 1950’s the Live Cell con had expanded into Germany and was also being performed by an associate of Neihans, a Dr. Wolfram Kuhnau. In 1957, West Germany finally started to take a serious look into what was happening to the patients. Within the limited scope of their study, they found that there were at least 80 serious (life threatening) reactions and 35 deaths caused by the Live Cell Therapy. Soon after, the German government started closing the operations down by revoking licenses. Eventually Dr. Kuhnau packed up his business and belongings and moved to Mexico, a country that to this day does little to monitor medical procedures and drug distribution. Especially if the proper ‘taxes’ and ‘fees’ are paid to the appropriate (and increasingly wealthy) authorities.
By the end of the 1970’s Kuhnau had settled into Tijuana near the lucrative American market. Kuhnau is credited with modifying the con to purportedly use cells from sharks. After the movie blockbuster “Jaws” was released in theaters, American fascination with sharks led to many myths about sharks that are still believed today. These myths, masquerading as facts, include: sharks not sleeping, getting cancer, or having superior immune systems. Sharks do sleep, sharks do get cancer and their immune system is far from superior.
Kuhnau has since passed away, but his Live Shark Cell Therapy con is alive and well and being practiced in at least five Tijuana clinics. Some even have storefronts just across the border in the United States, giving the illusion of FDA approval. There trained salespeople encourage the desperate to part with their money (and ignore their doctor’s advice). One such clinic, claiming to be the one true descendant of Neihans and Kuhnau rakes in millions of dollars a year purporting to cure over 30 diseases and disorders. Everything from the (always profitable) cancer to Muscular Dystrophy, Mental Retardation, Down’s Syndrome, Sexual problems, AIDS, Diabetes, Multiple Sclerosis, Epilepsy, Stroke, infertility, Dwarfism, skull ‘malformations’ and now Huntington’s Disease.
Stop and ponder those claims for a moment before proceeding. They are saying one type of procedure can cure diseases caused by viruses, diseases caused by defective genes, repair damaged organs, fix birth defects, and magically reshape and grow bone. These are all medically unique, yet supposedly can be cured by one magic treatment. Even better, they say it’s not available in the United States because doctors don’t want it! Of course, these claims are absurd but they continue to make millions of dollars performing this con.
Their story telling skills are second to none. They claim they use embryonic blue shark cells obtained from fishermen, that they manually separate the cells into types such as heart and brain, freeze the cells and then eventually inject them live in humans.
Stop for a moment and ponder these claims before we proceed. A fishing boat goes out one morning into the Pacific Ocean. If they have a good day, the boat crew will catch a few Blue Sharks (no other fish or shark is used). They are then stored in the hold of the ship until the boat makes it back to the dock. Once there, the boat is unloaded and the fish are moved to a warehouse/processing plant. The female sharks (after all we do need Blue Shark embryos) are cut open and then, if any were pregnant, the embryos are removed. Presumably they are then stored on ice until someone from the clinic picks them up. Once the Blue Shark embryos are back at the clinic, somebody would then dissect these tiny embryos and separate the cells into their respective categories such as heart, brain, liver, etc.. Then, in some unknown order, the separated Blue Shark embryo cells are then finely ground, frozen, mixed in a solution and then separated into individual doses. These are then stored frozen. In some cases, the cells are illegally shipped (banned in the 1970’s due to deaths) into the United States in dry ice to then be injected by the purchaser.
Since cell death starts shortly after the death of an animal, how many of those cells do you really believe are still alive by the time they have been removed from the ocean, stored on the boat, hauled to the warehouse, hauled to the clinic, separated, crushed frozen, shipped on dry ice and then finally injected? My money would probably be pretty safe if I betted ‘None’. Other questions you might ask are: How sterile is the process? How many usable blue shark embryos can they really get reliably? How accurately could embryonic cells really be manually dissected and sorted?
Even if the cells are still alive by the time they are injected, there are other medical realities that make this procedure a total waste of time and money. If real cells are injected into the body, the immune system recognizes the protein as foreign (yes, this has been medically proven) and the body tries to rejects it. This reaction is what killed so many German’s in the 50’s and many others around the world since then (including the United States). Further, we have something called the Blood Brain Barrier (bbb). This barrier prevents all but the smallest particles from entering the brain. This keeps viruses and bacteria out of the very delicate brain tissue. The ground up fish particles are hundreds of times larger than what can fit through that barrier. It just can’t make it to the brain.
These con artists have a number of practiced explanations on why their process works and to a non-medical professional they really do sound plausible. However, their stories start to fall apart when they are examined in detail. I’m not going to go into that fine detail here. It would take a good-sized book to completely discredit the numerous fake claims and stories. Just because a lot of medical and scientific sounding terminology is used, that doesn’t mean that what is being said is true. They have made millions of dollars because they are so convincing.
Some arguments for the treatment that I would like to address…
Arguments 1: Pharmaceutical companies are conspiring to keep this treatment from being approved.
Balderdash! If this ‘therapy’ truly worked, there are dozen’s of steps and practices that could be patented. Because this supposedly treats so many diseases and disorders, the resulting patent fees would make the patent holders some of the richest people in the world. Offering a cure for so many diseases (heck, even one) would make that scientist or doctor one of the most famous in history. More famous than such luminaries as Pasteur, Curie and Salk. A small fortune would be made from the resulting book deals and speaking fees. Who in their right mind wouldn’t go for the fame, fortune and the saving of lives of family and friends?
Argument 2: Pharmaceutical companies aren’t interested because it’s not a drug.
Baloney! Take a look at Amarin Pharmaceuticals. Fish Oil is a cheap and readily available supplement. Amarin has created a purified version of the EPA that is in fish oil and they have spent millions in order to get FDA drug approval for LAX-101. If approved, it’s only recognized use is to slow the progression of a relatively rare disease (HD, of course). It’s not even a cure of this ‘rare’ disease, it promises to slow the progression of the disease yet they expect sales to exceed half a billion dollars a year.
Now imagine the billions of profit that would come from a therapy that supposedly cures virtually every major disease known to man. If it was real, pharmaceuticals would be climbing all over each other to corner the market. The winner would make many of their competitor’s products worthless in the marketplace, ensuring their own survival. The winning CEO would retire richer than Scrooge McDuck.
Argument 3: I know somebody who is (I am) doing better since they (I) started the Live Cell Therapy, it works!
This is the most difficult argument to address because the person making the claim almost certainly believes it to be true. Here are some things to keep in mind: Most people who try Live Cell Therapy do NOT report improvement. Of those who do, many haven’t improved but believe that they have improved. This is especially common in the HD community because the disease affects the brain’s ability to make judgments. I know one very affected individual who believes he is cured. I know others who have visible movement who believe they aren’t showing symptoms yet.
Don’t forget, it’s fairly normal for HD symptoms to appear to improve and worsen as the chemistry in the brain fluctuates. Even over the course of a week we’ve all seen pHD’s with ‘good days’ and ‘bad days’. Over the course of a few months I saw one gentleman with HD go from a dangerously emaciated 130 pounds to a fat 197 pounds. None of these people I just mentioned have ever tried live cell therapy or other ‘miracle’ cure.
One other reality that must be taken into account is that any perceived improvement may be due to outside factors. For example: A change in lifestyle that lowers stress such as retiring from a stressful job, or leaving any stressful environment, can significantly decrease Huntington’s symptoms. The opposite is also true, increased stress often increases the appearance of HD symptoms. Also, a change in medication, exercise and eating habits has also been known to help alleviate symptoms. This can be especially true for those with low CAG counts and a family history of late onset. There have been pHD’s who have lived into their 90’s without any significant medical treatment.
Argument 4: Since HD is an untreatable disease, why not try Live Cell Therapy. What have I (they) got to lose?
There is a lot to lose like money. Few pHD’s have money to waste. The inability to work, the delay in getting benefits, and rising medical costs have drained the bank accounts of many pHD’s. There are several potential treatments available or coming that have real promise. It would be much wiser to spend the money these areas and not on the con artists. Besides, it would just give them the funds to continue to bilk millions out of others who can ill afford it.
They can lose their health. There are documented deaths as a direct result to live cell therapy in the United States and many other countries around the world. This therapy has the very real potential of shortening their life. This has been documented and proven in several countries and studies. It was deaths that caused the United States to ban the import of these therapies (even though it continues to be done today). It was dozens of deaths that caused its ban in Germany. In 1987, one well-known female British athlete died as a direct result of receiving Live Cell Therapy.
One final point I would like to address:
There are those who ask why the FDA doesn’t just test Live Cell Therapy to see if it really does work. “After all, maybe it does work!” Actually, there have been various legitimate studies done over the years by medical researchers. Every one has failed to find any benefit and many have found real physical damage. In addition, many (if not most) of the basic science claims made by the con artists have long since been proven false or irrelevant in numerous medical and scientific studies. Most of the basic ‘facts’ about Live Cell Therapy were proven false a long time ago.
Why should the FDA or any researcher waste rare and valuable research dollars on theories that have been thoroughly discredited by previous studies when there are so many promising therapies (supported by science) that offer the very real possibility of an effective treatment or cure for Huntington’s disease?
They shouldn’t waste their money and neither should anyone else. Avoid the very dangerous Live Cell Therapy and always consult your doctor before trying any new therapy.
Posted by Dave at 08:13 AM | TrackBack
July 19, 2003
Expert Writes On HD Research
Dr. Steven M. Hersch of the 'Center for Aging, Genetics and Neurodegeneration' at Harvard Medical School has written a review of the current state of Huntington's Disease research in the medical journal 'Current Opinion in Neurology'. For those who don't know, Harvard is one of the leading institutions in the world for Huntington's Disease research. Their HD Brain Study is continuing to bring new insight into the research.
In his review, Dr. Hersch points out many reasons to be encouraged by the progress which is finally being made in Huntington's research. He discusses how researchers are finally figuring out how the protein clumps which are created by the HD gene in the nucleus of the brain cells is causing the early death of those cells. He points out that the use of new research tools such as cell assays is identifying drug's that may effectively treat HD. Dr. Hersch discusses how the use of HD mice is helping identify other therapies that might alter the progression of the disease. He mentions that researchers are discovering how to create peptides (a small amino acid chain) that counters the protein clump.
In a comment that demonstrates the timeliness of what HDDW is trying to accomplish, Dr. Hersch mentions studies that are being conducted with pre-symptomatic HD patients to identify drugs and supplements that delay the onset of the Huntington's Disease. He finishes his remarks by pointing out the importance, at this point of HD research, of conducting clinical trials to bring effective therapies to the HD community.
It's becoming increasingly clear that we can start to hope again. It's important that we strongly support the efforts of initiatives such as HDDW's that will help bring these promising therapies to the HD community.
Posted by Dave at 09:43 AM | Comments (0) | TrackBack
July 18, 2003
How Is HDSA Really Spending The Money?
When it comes to charities, there is no charity that doesn’t have its critics. Many are very badly run with most of the money going to the management. Others just suffer from poor management. Some deliberately release false press releases with rigged study data to attract attention and fund raising. But most charities try very hard to do the best they can with their limited resources.
The Huntington’s Disease Society of America (HDSA) is the most prominent and visible Huntington’s Disease organization in North America. We all wish HDSA and other HD organizations would do more. Some wish they would spend more on research, others wish they would spend more on supporting HD families and most want more spending on both priorities. We all know that there isn’t enough money being spent on Huntington’s Disease, but how well is HDSA spending the money they do have?
Here is what the two top charity watchdog’s have to say about HDSA:
The American Institute of Philanthropy (AIP), in its tri-annual study of top charities gives HDSA their top rating – ‘A+’. In fact they are the only health charity to get that score. By the AIP’s standards, a charity should spend at least 60% of the money on charitable programs. HDSA spends 84% of it’s money on it’s charitable programs. Another AIP measure is how much the charity spends to raise money. The AIP standard is that no more than $35 should be spent for every $100 raised. HDSA only spends $13 for every $100 that it raises. Another thing that the AIP looks at is whether the charity is holding on to too much money and not spending it. The AIP standard is that a charity should not hold assets that are worth more than three years of fundraising. (What good is a charity that doesn’t actually spend its money?) Any charity that has over five years of assets is given an ‘F’ and considered to not need funds. HDSA, on average, only has about 12 weeks worth of assets. Way under the AIP’s three-year limit. These are the reasons HDSA gets the very rare A+ rating.
Another charity watchdog group is the Charity Navigator. Founded in 2001, they measure charities differently than the AIP. They’ve developed a more complicated system for measuring charities that tries to measure the quality of the management of the organization. This process can be very informative, but the resulting rating may be misleading to some who don’t understand the process that was used to develop the ratings. The Charity Navigator gives HDSA a three-star rating (four-star is the highest) which means: “Exceeds or meets industry standards and performs as well as or better than most charities in its Cause.” A very good rating. In fact, they barely missed getting a four-star rating.
In my opinion, they use a formula that too heavily weights the fundraising efficiency (without going into detail, they essentially double-weight it compared to other expenses). HDSA only spends 3 percentage points more on fundraising than what Charity Navigator considers ideal. They will give a charity four-stars if they spend at least 75% of their money on program expenses, this is arguably the most important category. This number represents the percentage of money being spent for the purpose of the charity and that number should be as high as possible. HDSA spends much more than the 75% four-star standard, they spend 84% on program expenses! Much higher than what is considered a four-star performance.
Charity experts agree, HDSA is a well-run organization. So why does it seem that not enough money is being spent on research and support services? The answer is simple: They just don’t have much money. What money HDSA has, they spend very well. Last year they only had a little over $6 million to spend on programs. It varies but they spend about half their money on support services and half on research.
To give you an example of how little money that really is consider this…If they spent their entire program budget on support services that would only be about $63,000 more per state. A drop in the bucket compared to the need. This is why the HD community must rely so heavily on state and federal programs for support and on pharmaceutical and genetic companies for research.
No organization is perfect, but HDSA is accomplishing a lot with the very little money they have. If we want HDSA to do more, the HD community will need to step up and help them raise awareness for Huntington’s Disease and provide support for their fundraising programs. Just as we need their help, they need our help. We are in this together.
Posted by Dave at 10:51 AM | Comments (0) | TrackBack
July 17, 2003
HDDW
Since this blog started, I've wanted to write about HDDW - Huntington's Disease Drug Works. Dissatisfied with how current HD research was progressing and not wanting to stand on the sidelines, the founders started the HDDW to create a process that would bring help to HD families sooner.
HDDW has (naturally) evolved as they’ve been establishing it. There have been some name changes (HDDR, HDDW, Treatment Now Initiative), slight goal changes and organizational changes (attempting to become a part of HDSA, pursuing non-profit status). Until now, the only source of information has been some articles on HD Lighthouse. It looks like it’s going to be easier to follow their progress as they have just announced that they are developing their own website.
For those who are unfamiliar with HDDW, their goal is to speed up the research process and improve the dissemination of study information. They want to create a process where a follow-up confirmation study is done quickly whenever there are encouraging animal studies. They also want to develop a process where potential treatments are tried on humans sooner. This is all being designed to bring help to those with HD sooner than it might otherwise happen.
HDDW is encouraged about animal studies that have shown certain treatments to be potentially beneficial to humans. These treatments include EPA (fish oil), minocycline, coQ10, creatine, cystamine, TUDCA and an unnamed drug.
For the latest on HDDW be sure to read this article on HD Lighthouse. At the end of the article there is a form you can fill out if you want to become involved with their organization.
Posted by Dave at 09:11 AM | Comments (0) | TrackBack
July 16, 2003
Man With HD Murdered In Seattle
From the Seattle Times:
"Brett Thompson had Huntington's disease, a crippling, fatal nervous-system disorder that he did everything he could to cope with — and often pretended to ignore, his mother said.
The 33-year-old Thompson did drugs, drank and rebelled to numb the depression of knowing he would die young, said his mother, Jeanne Zetz. But Thompson was a trusting soul who looked to anyone for approval, even if they were the wrong kinds of people, she said. "
"...Thompson was born and raised in Kirkland and attended Juanita High School before dropping out about the same time his father died of Huntington's disease, a hereditary, degenerative brain disorder that eventually robs a person of the most basic functions of movement and thinking.
Thompson soon would begin to exhibit signs of the disease, as would his sister, who is now in a nursing home in California, Zetz said.
About a year ago, he decided to move back to Seattle from California to live with friends. He thought he might be able to pick up odd jobs, but the living arrangements were not what were promised and the job never materialized.
It wasn't clear how he met Robertson, but eventually Thompson, by then a tall, gaunt man who had trouble moving and walking, moved in with Robertson at an apartment less than 10 blocks from Carkeek Park. "
The police have the suspect in custody. You can read the whole story here. (Warning: graphic details)
Posted by Dave at 09:30 AM | Comments (0) | TrackBack
July 15, 2003
A Sad Day For Ethics
Peter Singer, the infamous Princeton professor, has just been awarded the "World Technology Award For Ethics". The award was given during the '2003 World Technology Summit' at the end of June in San Francisco. In response to the award, Singer had this to say:
"The fact that the World Technology Network has an ethics award at all is a recognition of the importance of keeping ethics in mind as we move forward with new technologies in a wide variety of fields, from genetics to computing."
So why am I posting this on an HD blog and who IS Peter Singer? Peter Singer is a prominent professor from a prominent university who is also a prolific author and speaker. Singer advocates that parents should have the option of killing their new born children if they are disabled. (He even argues that parents who kill healthy infants are the moral equivalent of 'parents' who choose not to conceive a child.) This 'ethical' opinion on killing 'defective' children only makes sense if you make the assumption that those who are born "less than perfect", such as those with Huntington's Disease, are of less value to humanity (or even 'less human') than those who are born healthy.
If this belief were to become commonplace, how much harder would it be to fight for the rights of those with Huntington's Disease? How much harder would it be if we must first convince society that pHD's are just as important as people born without the disease? It is precisely because pHD's are just as valuable to us and society at large that we must push for more research and more support, not extermination.
That's not all, Singer argues against the use of animals in medical research. We are decades closer to an effective treatment and cure for HD because of animal research. Fruit flies, worms and mice have told us so much about the disease. It was studies on mice that identified the protein clumps that research is now finding ways to target. Animal testing has identified supplements, FDA approved medications and experimental medications that might bring help to thousands of pHD's. The ultimate cure, genetic therapy, is being developed and tested in carefully controlled animal experiments. Without such research, we would not see a cure in our lifetime.
Why does Singer believe this? I really can't say I understand it. He believes animals to be the equivalent of humans. He even argued in Nerve magazine that bestiality should be legal because the animals consent to the activity.
According to those who know Singer and even to those who disagree with him, he is considered to be a 'nice', 'friendly' and an 'intelligent' person. As has already been mentioned, he holds a prestigious position in an important American university for which he is winning awards for his ethics and his input on genetics. He is gaining acceptance in many circles with arguments that are opposite the interests of those in the HD community.
We, as a community, need to be vigilant in watching the public debate and we need to be able to effectively defend the interests of our community. I am not talking about muzzling opinion or burning books, that would be foolish as this opinion is held by many on college campuses and in other arenas. What we first need to do is realize that these concepts are being taught and advocated in society.
We then need to be prepared to answer back these critics by being able to demonstrate the importance of people with Huntington's and the importance of animal research in saving the lives of our family and friends. We need to defend the value of those with Huntington's Disease, that is the true ethical position.
Hat tip to Hoystory.com for catching this.
Posted by Dave at 08:04 AM | Comments (0) | TrackBack
July 14, 2003
Polyglutamine Possibilities? - Provid Pharmaceuticals Pursues Promising Peptides
OK, OK...I couldn't resist the headline. Now the news:
Duke University, like many research facilities, has been investigating peptides as a potential treatment for Huntington's Disease. So what is a 'peptide'? A peptide is a short chain of two or more amino acids. This is one of the hottest area's and most promising area's of HD research. Some peptides have the ability to bind with the mutant Huntingin protein and prevent the neural cells from dying early. You can read a great article on this at the San Diego HDSA Website.
The speed of this research has been exploding as a new testing tools, cell assays, which allows for testing many peptides at once. A study published in May confirmed the reliability of these tests when they compared the assay results with Drosophila (fruit flies) tests. Assay tests have shaved years off of research time lines.
Duke, in their research, has identified several peptides that appear to be effective against the mutant Huntingtin protein clumps (aggregates). Provid Pharmaceuticals specializes in peptides and will now try to develop a way to deliver Duke's peptides, in a medication, across the blood/brain barrier (bbb) to the affected parts of the brain.
Because a delivery method needs to be developed and the resulting medication will have to go through the FDA approval process, we are still several years from this becoming a prescribable medication. However, there is every reason to believe that peptides can become an effective treatment for Huntington's Disease.
Here is the Provid Pharmaceuticals press release:
Provid Pharmaceuticals and Duke University Medical Center Announce Huntington´s Disease Drug Discovery Collaboration
PISCATAWAY, N.J., July 1
Provid Pharmaceuticals Inc. and the Duke University Medical Center Division of Neurology have announced the initiation of a collaboration to identify compounds that could be of value in the treatment of Huntington's disease.
James R. Burke, MD, Ph.D., and Warren Strittmatter, MD, Duke scientists whose work has been carried out at the Deane Laboratory in the Division of Neurology, have studied genetic features of Huntington's and other diseases in which the DNA sequence "CAG" is repeated multiple times in certain genes in affected individuals. This produces stretches of "sticky" polyglutamines (poly-Q) attached to cellular proteins. The poly-Q repeats lead to the formation of aggregates that are highly toxic to nerve cells in the brain, producing the progressive neurological and cognitive deterioration that is the hallmark of Huntington's disease.
Dr. Burke commented, "We identified small peptides that inhibit the aggregation and toxicity of poly-Q molecules. Provid's expertise in peptide mimetics led us to select Provid to transform our lead peptides into bio-available small molecules for evaluation in cellular and animal models."
Dr. Gary Olson, Provid President & CEO announced the collaboration. "We are very pleased to be working with the Duke investigators on this important target. The program is an ideal fit to our technology and background.
Provid Pharmaceuticals is a drug discovery company that works collaboratively with academic and biotech companies that have discovered new therapeutic targets, but need medicinal chemistry expertise to translate that research into drug candidates. The company has programs in autoimmune and infectious diseases with academic collaborators, and with BTG on a target in allergic asthma.
This press release contains forward-looking statements as defined by the Private Securities Litigation Reform Act of 1995 regarding Provid's future activities and the potential for discovery of drug compounds, and involve a high degree of material risks and uncertainties. Many possible factors could affect future results and performance of Provid's research and development activities, and ability to develop pharmaceuticals based on the company's technology and the specific Huntington's disease target. If Provid's efforts fail to perform as expected, or if any of a wide range of other risk factors are encountered and not surmounted, the company's financial condition and operating results may be materially and adversely effected.
Contact
Provid Pharmaceuticals Inc.
Edwin Thomas, COO/CFO
10 Knightsbridge Road
Piscataway, NJ 08854
732-980-9229
www.providpharma.com
Posted by Dave at 07:21 PM | Comments (0) | TrackBack
July 13, 2003
Creatine Protective Against HD
HD Lighthouse reports on a study that was just published in the medical journal Neurology. In the study pHD’s took creatine for one year and after that year they showed no decline in their Huntington’s Disease. You read that correctly… “no decline”.
Before I continue: As I’ve said and as Jerry states at the beginning of the article:
“Check with your doctor before starting any new supplement!” No supplement or medication is appropriate for every person.
Here’s what you need to know about the study: The study isn’t a guarantee that you will benefit from taking creatine. The study was small, any kind of results can occur with small studies due to normal randomness. The study was ‘open label’ which means the results could have been easily and inadvertently skewed by the researchers and/or the participants. Even if creatine is protective, it is unlikely that is offers an equivalent to a cure. You can have some confidence in this study because creatine is scientifically proven to act on a cellular level in a way that could be beneficial and because similar results have been demonstrated in quality animal testing. In addition, creatine has been shown through numerous studies to be relatively safe and inexpensive supplement. So even if it were to turn out to not be beneficial it’s unlikely that it is harmful. In simpler terms, you have a real chance of being helped and very little chance of being harmed.
Every person who has tested positive for HD or is at risk should strongly consider taking creatine. It has the potential of buying you the years you need to benefit from a cure.
Here is what you need to know about creatine: It has been thoroughly studied for many years and is considered safe. At one time, there was concern that in athletes it led to cramping and dangerous dehydration. Studies have since shown these concerns to be unfounded.
Creatine is not a steroid. Athletes’ muscles will get slightly larger while taking creatine but this is due to individual muscle cells holding slightly more water. Creatine does seem to help with endurance in some type of athletic activities. Creatine’s effects on muscles in athletes may not carry over to those with Huntington’s Disease.
Starting creatine: The study used 10 grams of creatine a day. Previous HD studies have shown no benefit when taking 5 grams a day, so ignore the 5 gram dosage recommendation on the label. The label will usually mention a period of “front loading” when starting creatine and they will recommend taking 15-20 grams for the first 5-10 days. This recommendation is meant for athletes. Do not ‘front load’, just take the 10 grams a day. Drink more fluids when starting creatine. This is very important. Some cells will hold more water due to the creatine so your body will require more water. This might also cause your bathroom scale to register a slightly higher number. Don’t be alarmed, this is not the same thing as “bloating” or what most people think of when they hear about water retention.
What type of creatine? Creatine is available almost anywhere that sells supplements. It’s typically sold as a powder that you mix in something such as water or milk. Some manufacturer’s offer a liquid version which, in many cases, is just a scam. Creatine eventually will break down in water and become ineffectual (which is why you drink it shortly after mixing it). Don't waste your money on products that say they are 'more effective' due to some ingredient they've added. The ingredient is basically sugar (a simple carbohydrate).
A couple of manufacturers offer creatine in a capsule. This makes it convenient to take but this option is much more expensive and the capsules are quite large. Most powdered creatine you see in the store has the consistency of sugar and it doesn’t mix very well. Some consider it ‘gritty’. I recommend spending a little extra money and buying the “micronized” versions of creatine. Micronized creatine is ground more finely; it has a consistency similar to powdered sugar.
Some people will mix their creatine in the blender with a smoothie. Other’s use a spoon and stir into their protein drink, water or milk. I find that plastic shakers with the built-in screen do a good job of conveniently mixing the creatine. As with everything, find out what works best for you.
Be sure to read the full article on the HD Lighthouse website.
UPDATE: Fixed typo of 'mg' instead of 'gm' or 'grams'.
Posted by Dave at 09:34 AM | Comments (0) | TrackBack
July 12, 2003
The Third Option
A change of pace for today...
I got to thinking about a friend of mine who has tested positive for the HD gene (pHD). Like many, she thought long and hard about getting tested. Ultimately, she decided that she needed to know whether she should save for retirement or whether she should spend her money doing the things she's always wanted to do.
After she found out her results she started making plans to do those things on her list she always wanted to do. It was shortly after this that she experienced what I had once heard described (and is now one of my favorite sayings) as: "Life is what happens to you while you are making other plans". Due to circumstances outside of her control she's now having to put some of her plans on hold. This wasn't something she was prepared for. If she can't do what she's always wanted to do now, will she be able to do them in the future? Maybe getting the test was a mistake, taking away any remaining hope?
This reminds me of someone I once worked with. He was a top-notch salesman who was everybody's friend. He was also an alcoholic and a three pack-a-day chain smoker. Like the other men in his family his dad had died by the age of 52. Because of this, he lived his life believing that he would die by age 52. He had no doubts in his mind on this. Since his fate was already decided, or so he thought, he didn't worry about any of life's other risks.
Life had other plans for him. At 57, still chain-smoking and drinking heavy, and with no life savings or retirement plans he was scrambling to prepare for eventual retirement. This wasn't an eventuality he had prepared for. Last I heard he was nearing 70 and still going strong.
So what about my friend? She's in her 30's, she's officially 'symptom free' and she is taking care of herself. The fish oil, minocycline and coQ10 are probably helping to delay the onset of the disease.
Looking foward it's clear that more effective treatments for Huntington's are coming; perhaps TUDCA and/or HDAC inhibitor's in the more immediate future. Lab testing is finding several promising treatments that target the misfolding Huntingtin protein. DNA gene therapy is coming closer to reality and RNAi gene therapy could happen even sooner. An effective treatment or cure for Huntington's Disease is still a few years away but what about someone who is asymptomatic or who is in the early stages of the disease? Can we be so sure about what the future holds?
Before testing, my friend considered two possibilities - a negative test and retirement or a positive test and 'living life' now. Perhaps its time in the HD community to consider a third possibility - testing positive, still living life and planning for retirement.
As for my friend, she didn't make a mistake getting tested. Because of the test, she's now doing the things that will give her the best chances for enjoying retirement. Some dreams have been delayed but she will still achieve them. No matter what, she knows to enjoy what she has now and I'm learning that from her. A couple of weeks ago I missed, by less than a second, of being in a car accident that would have probably killed me. Like many who aren't at risk for HD, I've lived my life assuming I can always enjoy it after I retire.
"Life is what happens…"
Perhaps it's time to consider the third option: Living and enjoying life to the best of our ability now AND planning for possibility of retirement. That's probably good advice for anyone.
Posted by Dave at 10:48 AM | Comments (0) | TrackBack
July 11, 2003
Study: Our Brains Can Regenerate
This is important news! Doctor's and scientists have believed that we lose brain cells as we grow older and that we cannot regenerate them. Huntington's Disease patients lose brain cells at an accelerated rate. The worry of many facing HD is that even if they find a treatment they'll never improve or regain anything they lost.
Well, a team of New Zealand scientists have proven that this long-held assumption about brain cells is wrong! We do regenerate brain cells and it has been proven in HD patients. Here is an excerpt from the New Zealand Herald article on the study:
"The discovery offers hope for eventual treatment of previously incurable brain diseases such as Huntington's, Parkinson's, Alzheimer's and epilepsy.
"Up till now the only thing we have been able to tell patients with any certainty, once we have made a diagnosis [of brain disease], is that they are going to get worse," Professor Faull said.
"To be able to turn that around and say we've just found something which shows that the diseased brain does make new brain cells, and if we can make that go faster, suddenly you are holding a glimmer of hope."
This research was done with a program similar to the Harvard Brain Tissue Resource Center. This type of research is very useful for Huntington's, if you are interested in participating talk with neurologist about the process of donating your brain. It could help lead to a cure.
The results of the research shouldn't surprise those who've been following recent developments in Huntington's Disease research. There have been hints, out of animal testing and very-limited human testing of symptoms reversing in certain circumstances. In some cases the most likely reason was the regeneration of brain cells. This would also partially explain why symptoms take years to manifest. For at least the early years the brain is able to (at least partially) repair the damage being done by the Huntington's.
This is all the more reason for pHD's to take steps to maintain their health. With the consent of your doctor, follow the HD Lighthouse Triad of exercise, diet and spirituality. Talk with your doctor about taking fish oil, creatine, coQ10, minocycline and anti-oxidants. Find an exercise program that works for you.
One thing I would add to the Triad is actively engaging in activities that require 'thinking'. Whether it be taking college courses, doing crossword puzzles or any other mentally challenging activity, this has been shown to slow the rate of other brain diseases and there is anecdotal evidence that it helps those with Huntington's.
For more on this new study read this article from the New Zealand Herald.
Posted by Dave at 07:21 AM | Comments (2) | TrackBack
July 10, 2003
Anti-psychotic Medications Targeted
Dr. Rangel over at Rangelmd.com has an update on lawsuits against Zyprexa, a newer anti-psychotic medication. He references a great article by Michael Fumento (via Medpundit).
As many of you know, many of today's anti-psychotics and anti-depressants aren't always a good choice for Huntington's Disease patients. Haldol being one of the worst examples. Pharmaceutical companies have been working on newer medications that are hopefully more effective and have fewer side effects. Unfortunately, the medications that manage to survive the FDA testing procedures become targets of lawyers who specialize in class action lawsuits.
For these lawyers, its a lucrative business. In this case they claim that some people who take Zyprexa MAY get diabetes. Never mind that those who need it are already more likely to have diabetes! On top of that there is evidence that Zyprexa may actually LOWER the rate of diabetes. But since the potential risk of diabetes wasn't mentioned on the informational insert (which was approved by the FDA) the lawyers are suing. Oh, some of the patients who switched to Zyprexa are alive today because of the stroke death risk from some of the older medications.
Lawsuits like this raise medication costs and lower medication options for HD patients. It's a real shame. Read the articles for the whole scoop.
Posted by Dave at 08:17 AM | Comments (0) | TrackBack
July 09, 2003
EU Rules Hurting Drug Development
Derek Lowe has another great article on the pharmaceutical industry. Derek's 'Drug Discovery' blog is one I make a point of visiting on a regular basis.
In this article he discusses the effect that European price controls have had on Europe's pharmaceutical industry. In a nutshell, fewer drugs are now being developed in Europe and researchers are fleeing to the United States.
Since Huntington's Disease has no cure or effective treatment, our hope is that pharmaceutical companies will fill that gap. However, developing drugs is an expensive process. If countries institute price controls on pharmaceuticals than many drugs no longer make financial sense to develop. The 'orphan' diseases such as Huntington's Disease suffer the most in a price control environment.
Unfortunately it looks like any changes the European Union makes regarding pharmaceutical price controls is unlikely to have a major effect on drug development. The good news is that a lot of good researchers are coming to the United States to continue their work.
Posted by Dave at 08:38 AM | Comments (1) | TrackBack
NY Giants Michael Strahan at HDSA Benefit
Defensive End Michael Strahan is going to be one of several NY Giants who will be attending a benefit on Friday July 11, 2003 for HDSA. If you live in the New York/New Jersey area be sure to attend this event. HDSA funds Huntington's Disease research and provides a lot of direct support to families with Huntington's Disease.
Here is their press release:
Strahan to Appear at Benefit for Huntington's Disease
Giants All-Pro defensive end to be joined by Bob Papa.
By Michael Eisen, Giants.com
July 8, 2003
East Rutherford, N.J. - Michael Strahan is one of several Giants scheduled to attend a charity cocktail party Friday to benefit the New Jersey Chapter of the Huntington's Disease Society of America.
The dinner, which will be held at the Royce Brook Golf Club in Hillsborough, N.J., will also feature golf contests (golfing experience not necessary), prizes and a silent auction. Bob Papa, the voice of the Giants, will be the master of ceremonies.
The golf contests will include longest drive, chipping and putting contests. Registration will begin at 5:30 p.m. The contests and cocktail party, which will run from 6 p.m. to 9 p.m., is $150. For those interested in the cocktail party only (7:30 p.m. to 9 p.m.) the cost is $100.
For information, call 609-448-3500. The fax number is 609-448-3521. Those interested can also send an e-mail to pvelascohdsanj@aol.com.
All proceeds will benefit the Huntington's Disease Society of America.
Posted by Dave at 07:30 AM | Comments (0) | TrackBack
July 08, 2003
RNAi - Stop That Gene
Be sure to visit ScienCentral today and read their article on RNAi and treating Huntington's Disease. I have been excited about this technology since last fall when I stumbled across a press release from the University of Iowa.
Until now, a 'cure' for Huntington's Disease meant manipulating the DNA so that it no longer encoded such a long string of glutamine in the Huntingtin protein. Ten years after the discovery of the gene researchers are still working on a way of doing this effectively. That changed with the discovery of the RNAi process a couple of years ago. By using a process called RNA interference they don't change the DNA, they just block the 'bad' section, which codes the extra glutamine, from creating that bad portion of the Huntingtin protein. The result is the same as changing the DNA, only 'good' Huntingtin is produced. Best of all it's easy to do, at least when compared to editing DNA. Already it is greatly speeding up (by as much as a factor of 10) many area's of DNA-related research and researchers have 'cured' many diseases in mice and in test tubes.
The discovery of RNAi is expected to produce one or two Nobel prizes within the next few years and it offers the possibility of curing a host of diseases. I believe it will eventually go down as one of the most important medical discoveries in the last 100 years. You'll be reading a lot about on the HD Blog.
The article discusses specific issues in using RNAi to treat Huntington's disease and there is an excellent video on how the process works. Also, I don't believe it's clearly mentioned here, it's already been determined that RNAi can distinguish between a 'good' huntington gene and a 'bad' one ensuring that only the bad gene is targeted. If they can find a way to deliver this gene through the blood-brain barrier without invasive surgery (such as with a disabled virus or virus segment) it could become available within a very short period time (within the next few years). The same technique, but different target gene, would cure many diseases that are considered common or well known today. It's theorized that many viral diseases such as AIDS could be cured with RNAi targeting the virus DNA.
Posted by Dave at 03:10 PM | TrackBack
July 07, 2003
Genetic Non-Discrimination Bills
One of the biggest topics in the HD community is issue of ‘genetic non-discrimination’. In 1993, Huntington’s Disease became one of the first genetic diseases that could be identified with a genetic test. Because of high medical costs of HD, insurance companies would love to know who has the HD gene before they are insured. With this information they could then refuse to cover the applicant for HD-related expenses.
While some would argue that it is only fair for an insurance company to understand any risk they are taking on, this comes at a significant social cost. Not having insurance would destroy many families as the costs mount. Today, individuals are choosing not to get tested for fear they will become uninsurable. As a result, they are often unprepared for the financial realities when the HD starts to hit. For others, they fail to plan for retirement believing they will never get there. Some men & women voluntarily have themselves sterilized to prevent passing on the gene. For some there was no risk.
Perhaps most importantly is that this can cause the loss of life. We are getting closer to having an effective treatment or a cure for Huntington’s Disease. Proactive pHD’s (tested positive for the HD gene) are taking steps to slow the progression of the disease, giving themselves the time needed to benefit from a future treatment. It’s probable that many people may die that otherwise would have lived if they had taken proactive steps to maintain their health. But without knowing their status, many aren’t taking these steps.
Today 43 states (here and here) to some extent, outlaw the practice of genetic discrimination. The exact laws vary from state-to-state and because some federal rules take precedence over state rules, not everybody in those states is protected. In order to protect all individuals from genetic discrimination bills have been introduced in the House and Senate. Since most bills never make it to the President’s desk, it is far from certain that they will pass.
Call your Senator and Congressperson today and let them know they should support these bills and why. The House Bill number is HR1910 and the Senate Bill number is S1053. You can follow the progress of HR1910 here and S1053 here.
For more information the Jewish World Review has a nice article on this and the American Society of Human Genetics (ASHG) has a web page on this also.
Posted by Dave at 10:49 AM | TrackBack
July 06, 2003
Dr. Bates Gives Us A Reason To Hope Again
Who is Dr. Gillian Bates?
She is one of the most important (and successful) HD researchers we have today. She developed the first HD mice in 1996. Her R6/2 mouse is the one most frequently used in HD research. She and her team were the researchers who determined that the HD gene was creating protein clumps (aggregates) within the neural cells (this was only 7 years ago). She’s won numerous awards and just one of her many papers has been cited by other researchers over 300 times (nearly unheard of).
She’s now leading the charge for one of the most promising HD treatments -HDAC inhibitors. Her latest study showed the HDAC inhibitor ‘SAHA’ to have the potential of being a highly effective Huntington's treatment. It’s currently in mouse studies and could start moving into human studies within a year or two.
Why am I mentioning her? She’s recently written an article which just appeared in one of the world's most prestigious and influential medical journals “The Lancet”. In it, she identifies the aggregates as the cause of the cell damage (this was just one of several theories just 18 months ago) and discusses promising treatments that target the protein clumps. She backs this up with references to recent animal studies. She also discusses the use of new research tools that allow the screening of many chemical compounds at once, significantly accelerating HD research.
Taking this article in combination with recently published studies, the cause of and paths for effective treatments of Huntington's Disease are quickly coming into focus. Researchers now understand (in general terms) how HD causes the early death of neural cells and they have identified several possible methods (and are developing more) for countering the neural cell damage. Many of these methods have been successful in animal models. In addition, new research tools are speeding the efforts to develop effective treatments. This is a far cry from the research from just a few years ago that was little more than throwing ‘stuff’ in a Petri dish to see what happens.
In 1993, after the Huntington's Disease Gene was identified, we kept hearing "a cure is around the corner." Many of us have heard that phrase too many times and have given up hope.
Depending on your definition, the 'cure' isn't "just around the corner" but it is coming. And while it is coming researchers are identifying ways to slow the progression of the disease. We can start hoping again.
Here's the abstract of the article:
Lancet. 2003 May 10;361(9369):1642-4.
Huntingtin aggregation and toxicity in Huntington's disease.
Bates G.
Medical and Molecular Genetics, GKT School of Medicine, King's College London, Guy's Hospital, SE1 9RT, London, UK.
CONTEXT: Huntington's disease is a late onset neurodegenerative disorder for which the mutation is a CAG/polyglutamine (polyQ) repeat expansion in the gene encoding the huntingtin protein. The disease is one of nine inherited neurodegenerative disorders that are caused by this type of mutation, and which include dentatorubral pallidoluysian atrophy, spinal and bulbar muscular atrophy, and the spinocerebellar ataxias 1, 2, 3, 6, 7, and 17. The mutant proteins are unrelated except for the polyQ tract, and aggregated polyQ is a major component of the proteinaceous deposits that are found in patients' brains for all of these diseases.
STARTING POINT: Since the discovery of polyQ aggregates, the proposed role of the aggregation process has ranged from being central to disease pathogenesis, to a benign epiphenomenon, or even to being neuroprotective. Attempts to correlate the presence of aggregates with the onset of phenotype have been complicated by the difficulties in detecting and quantifying small aggregated forms of polyQ, and because all possible structural conformers of the repeat are present in the system under analysis. A paper by W Yang and colleagues (Hum Mol Genet 2002; 11: 2905-17) circumvents these limitations and demonstrates that preformed polyQ aggregates are highly toxic when directed to the cell nucleus. Consistent with aggregate toxicity, pharmacological intervention aimed at inhibiting aggregate formation has recently shown beneficial effects in a mouse model of Huntington's disease (I Sanchez and colleagues, Nature 2003; 421: 373-79).
WHERE NEXT: The demonstration that polyQ aggregates are toxic is important because it further validates polyQ aggregation as a therapeutic target. To exploit this finding fully, greater understanding of the formation and structure of polyQ aggregates is needed. However, even without this knowledge, establishing high-throughput screens to identify aggregation inhibitors has been straightforward, and early in-vivo experiments that target aggregation have been promising. As the molecular events that contribute to the early stages of the pathogenesis of Huntington's disease are uncovered, such events will be developed as therapeutic targets. The inhibition of huntingtin aggregation should be a major focus in this effort and the practicalities of this approach are likely to unfold over the next 5-10 years.
PMID: 12747895
Posted by Dave at 08:26 AM | TrackBack
July 05, 2003
Generations of Hope Ranch Camp
Check out this letter from Traci L. Rorden at the HD Lighthouse. She is setting up a camp for families with Huntington's Disease. This camp will offer horseback riding, fishing and other activities for the family. The camp is located in beautiful Wallowa County, Oregon.
What a wonderful idea!
A good friend of mine in the HD family, who has worked in an equestrian camp, speaks very highly on the emotional healing effects of horses. This is a worthwhile service that fills a very real need in our community. If you would like to support this effort visit this page where you can purchase a beautiful photograph taken by Traci. The sales from this limited edition photograph will all go toward the Generation's of Hope Ranch.
Some of the links on their website don't work yet. Just follow the 'Next Page' link at the bottom of each page and you'll make your way through their site.
Posted by Dave at 08:40 AM | TrackBack
July 04, 2003
'Useful' Studies?
A Medline search finds there have been nearly 6000 published studies, letters and reviews on Huntington's disease. Some have really advanced the cause of finding a treatment for HD, others are little more than 'resume padding' for the involved scientists.
Here's a just-published study with the impressive-sounding title of "The midlatency auditory evoked potential P50 is abnormal in Huntington's disease." As you read the abstract there are a number of words and phrases you don't normally see in HD research: P50, midlatency auditory evoked response, cholinergeic pedunculopontine nucleus, reticular activating system, and sensory gating.
So what does it all mean? Basically they compared 11 HD patients with 13 healthy individuals to determine how well they rouse from a slumber. This type of study is often done on patients coming of anesthesia. What did they find?... They found HD patients are a little harder to rouse and it MIGHT be related to symptoms of Huntington's. So what!?
Now if they had determined that a specific chemical process was occuring in the brain and that modifying that process with medication would improve the lives of HD patients THAT would be useful!
I will be posting some fantastic studies over the next few weeks that do show new insight and promise in the reseach of Huntington's Disease. Fortunately, there is some great HD research going on out there. Here's the abstract of this study:
J Neurol Sci. 2003 Aug 15;212(1-2):1-5.
The midlatency auditory evoked potential P50 is abnormal in Huntington's disease.
Uc EY, Skinner RD, Rodnitzky RL, Garcia-Rill E.
Department of Neurology, University of Arkansas for Medical Sciences and Central Arkansas Veterans Healthcare System, Little Rock, AR, USA
The P50 (or P1) potential is a midlatency auditory evoked response, believed to be partially generated by the cholinergic pedunculopontine nucleus (PPN) neurons that give rise to the ascending reticular activating system (RAS). We compared the P50 potential in 11 Huntington's disease (HD) patients and 13 normal controls using a paired click stimulus paradigm. HD patients exhibited a P50 potential with reduced amplitude and increased latency to the first stimulus of the pair (first P50 potential), suggesting impaired ascending reticular activating system function, which may contribute to sleep disorders seen in HD. Sensory gating, measured as the percent ratio of the second P50 potential amplitude to the first P50 potential amplitude, was reduced at 250 and 500 ms interstimulus intervals (ISI), which may be related to disordered attention and anxiety in HD.
PMID: 12809992
Posted by Dave at 08:32 AM | TrackBack
July 03, 2003
Ethics and Genetics
There is little doubt that a true cure for Huntington's Disease is going to come from genetic research. After all, it’s a genetic disease. That doesn't mean that an effective treatment can't come from some other area of medical research but "The Cure" will require the hard work many genetic scientists.
Because of this we tend to glance over news that is critical of some genetic research. After all who wants to be critical of that which might save us? It's true that much of the criticism is unwarranted. For example, some critics obviously spent too much time in their youth watching old 50's horror films. They make scary claims about genetic research and coin terms such as "Frankenfood". The result of this hysteria is death. Malnutrition is killing millions of people in the third world while needed (and safe) food and seed stays in warehouses and on docks.
Just because the industry is the target of unwarranted criticism doesn't mean there aren't areas of concern. Genetics is the new "gold rush". Billions of dollars can be made from important discoveries. This economic incentive has caused a flood of interest and investment into genetic research. One of the reasons the Human Genome Project was finished early was the private sector funding their own research in hopes of garnering valuable patents. Each wise investment brings us one step closer to finally getting cures for genetic diseases.
The motivations for advancing research aren't just financial. A scientist who makes a dramatic breakthrough can earn fame in the scientific community and even in society at large. (Who hasn't heard of Madame Curie for example?) In addition a scientist can also benefit financial, if not from patents, from funded 'chairs' at universities, lecture fees, and books. And of course there is the ‘Holy Grail’ of research - the Nobel Prize.
In any 'gold rush' environment short cuts are taken by some to gain an edge. While the vast majority of genetic scientists are ethical and are doing careful research, there are a dangerous few who take ethic short cuts in order to gain an edge. Unfortunately, those who would benefit the most from good research are also the ones who hurt the most by bad research.
There are two ways bad research hurts us all. First, it creates a bad impression of genetic research among the public and politicians. This has the tendency to reduce the amount of money flowing into research and increases costs & development time due to additional regulation and oversight. Second, bad research siphons off money that would have been spent on more valuable genetic research. After all, there are only so many research dollars out there to be had.
It's important that those of us in the HD community be vigilant against bad genetic research. Ultimately, this bad research delays the day when we will finally hear that a cure has been developed and that delay will be at the cost of the lives of some of our friends and family.
In case you’re wondering why I wrote this rant today, here are two articles just published in the UK’s The Guardian newspaper: “