« May 2004 | Main | July 2004 »
June 30, 2004
Creatine & Strokes
It bears repeating: What is good for your heart, seems to be also good for Huntington's Disease.
In animal tests, creatine reduces the amount of brain injury due to stroke.
Ok, Ok, I know. That isn't exactly the heart but you catch my drift. If you are at risk for getting Huntington's Disease (and with your doctor's approval), it is a very good idea to take 10 grams of creatine a day. Research seems to point to it being helpful in Parkinson's disease, ALS and tramatic brain injury.
Posted by Dave at 11:04 PM | Comments (0) | TrackBack
June 29, 2004
Kick HD On Route 66
Marie Nemec has posted on her Bike For The Cure website pictures and narrative from her three-week bike ride to the HDSA Convention in St. Louis.
Her website is definitely worth a visit and don't forget to order your t-shirt (Front and Back)! All donations will be Tripled by HDSA's Research Matching Gifts Challenge Fund.
Posted by Dave at 11:47 PM | Comments (0) | TrackBack
June 28, 2004
Legislative Alert
From HDSA:
Genetic Nondiscrimination Legislation
We urge all HDSA Advocates to contact the following three members of the House leadership. These three members of Congress have the power to schedule speedy action on genetic nondiscrimination legislation. It's crucially important that they hear from you.
The message for each Congressperson is the same: Congress must take up and pass S. 1053, the Genetic Information Nondiscrimination Act, as quickly as possible. We must not allow another year to go by without protecting Americans against genetic discrimination. This bill was passed unanimously by the Senate and has the support of the White House, the Administration, and hundreds of organizations including HDSA. A similar House bill, H.R. 1910, has 241 bipartisan cosponsors. Pass S. 1053 now!
We urge our HDSA Advocates, especially those living in the districts represented by each of these individuals, to act now to contact the representatives listed below. As your elected representative in the Congress, ask them to support the genetic nondiscrimination legislation S. 1053.
1. Speaker of the House Dennis Hastert
Represents North Central Illinois, West of Chicago
District Offices:
Batavia: 630-406-1114
Dixon: 815-288-0680
To send an email, please click on the link below or copy and paste link to address bar:
http://www.house.gov/hastert/write1.shtml
2. Energy and Commerce Committee Chairman Joe Barton
Represents the Fort Worth, TX suburbs, including Arlington
District Office:
Arlington and Ennis: 817-543-1000
To send an email, please click on the link below or copy and paste link to address bar:
http://joebarton.house.gov/contact.asp
3. Education and the Workforce Committee Chairman John Boehner
Represents the suburbs North of Cincinnati
District Offices:
West Chester: 513-779-5400
Troy: 937-339-1524
To send an email, please click on the link below or copy and paste link to address bar:
http://johnboehner.house.gov/contact.asp
Posted by Dave at 11:41 PM | Comments (0) | TrackBack
June 27, 2004
Canadian Poll
Canadians are going to the voting booth tomorrow and guess what their number one issue is (as least in the Alberta)?
52% of those polled showed health care as their number one issue. Why is that? According to this article in the Calgary Sun, Tory candidate Jim Prentice mentions that "medical horror stories arise frequently on the campaign trail".
It'll be interesting to see what the results of the elections will be.
Posted by Dave at 11:09 AM | Comments (0) | TrackBack
June 26, 2004
Blogiversary
Yep! The HD Blog is celebrating it's blogiversary today. It's hard to believe that it has been one year since we opened up. We are one of the first medical blogs to focus on one specific disease - Huntington's Disease.
We never expected to receive Instapundit traffic or be the recipient of an Instalanche, but the goal has been to provide up-to-date news on matters that affect those in the Huntington's Disease community.
I especially wanted to bring some hope with this website. Last year I saw that there was a lot of good news in the research community but so few in our community seemed to know about it and I wanted to do my part in changing that.
At times it's been hard. My schedule last fall went crazy and there was less time to spend on the blog. I've kept up the posting schedule but I've slacked on updates to the code, design, and links. My schedule also prevented me from attending wonderful symposium in Florida, the HDSA convention in St. Louis, and the HDDW kickoff meeting in California. I've also had days, just like everybody else in our community, where it gets to be overwhelming.
Then there were the deaths in our community. Too many to mention of course, but two in particular hit hard: Jerry Lampson from cancer and Lou Wilkinson from a Canadian health system failure.
Other deaths, tragic as they were, brought something to our community. Reagan's death turned, at least for a while, the national discussion on health care away from cost cutting to medical research. Bert Eymberts was memorialized in a bronze statue showing that those with the HD gene can save lives and make a difference in this world. Rev Ivy Ayris and the Rev Norman Gunn left over $400,000 to be used in the Australian Huntington's community.
But this was also a year that brought much hope!
There was the incredible news about 'curing' SCA1 in animals. The difference between SCA1 and Huntington's is very slight, the polyglutamine string is just in a different location. The same treatment can be targeted to the HD's polyglutamine string. This was just one of many advances in RNAi.
On other fronts...
UC Irvine found the protein, SUMO-1, that makes mutated huntingtin protein toxic. This discovery provides a new and, more importantly, a single target for researchers to attack in the search for an effective treatment.
HDDW, through much hard work and determination, is now delivering promising treatments to those in new, innovative drug trials around the country.
Nancy Wexler and a whole host of researchers came out with a huge HD study, again from Lake Maracaibo in Venezuala on the role of environmental factors in affecting Huntington's Disease.
In one of the most under-covered and important health stories in the last year...NIH restructured changed their focus in a way that will speed up research for diseases such as Huntington's.
A small and imperfect study showed amazing results from Creatine.
Recent research has found promise in Pyruvate, CoQ10, fish oil/EPA, trehalose, cysteamine, ursodiol, & minocycline as treatments that may slow the progression of Huntington's Disease.
I'm looking forward to this coming year as there is expected to be many exciting developments in the world of Huntington's Disease research. This blog will be reporting them as they are announced along with other related news. There is hope!
Posted by Dave at 08:19 AM | Comments (1) | TrackBack
June 25, 2004
More on SCA1
There's another article on the gene therapy breakthrough that was successfully tried on SCA1 (spinocerebella ataxia type 1), a disease similar to Huntington's.
Here's an excerpt from the article:
“This is the first shot at getting at these dominant genetic diseases,” says Davidson, who hopes to have the technique ready to test in humans within five years. Huntington’s will be the likely first target, she says. ...
Chances are, different methods will end up being used to treat different diseases. And regardless of the final winners, the new results offer concrete hope that biologists may finally be inching closer to delivering on the promise of RNAi.
Posted by Dave at 05:08 PM | Comments (1) | TrackBack
June 24, 2004
Thuris Gets Orphan Drug OK
The press release:
Thuris Receives Grant for Orphan Disease Study From the National Institutes of Health
Thursday June 24, 1:00 pm ET
IRVINE, Calif., June 24 - Thuris Corporation has been awarded a Small Business Technology Transfer (STTR) grant from the National Institutes of Health (NIH).
The grant is being used to further Thuris' development of therapeutics for select Orphan indications. Thuris' drug development efforts include extensive compound testing in the Company's proprietary RapidAging(TM) models.
"We are very pleased with the progress of our research on Central Nervous System diseases and with our ability to secure another round of external, peer-reviewed support," stated Keith B. Hoffman, Ph.D., Chief Operating Officer at Thuris. "This grant will expand the scope of our Orphan indication programs, one of which was previously subsidized by a BioSTAR grant."
RapidAging(TM) is the first system of its kind for testing anti- neurodegenerative drugs directly against primary pathologies in living brain tissue, including: neurofibrillary tangles, amyloid toxicity, inflammatory reactions, microglial activation, cellular viability, and others. Thuris' proprietary systems creates these hallmarks of various neurodegenerative disorders, including Huntington's disease, Mild Cognitive Impairment, Alzheimer's disease, etc. in just three to six days, enabling the rapid, precise testing of drug candidates against any or all of these targets -- chronically or acutely.
About Thuris
Thuris is focused on pharmaceuticals for select Orphan and niche indications, Alzheimer's disease, and Mild Cognitive Impairment. Three Orphan clinical programs are in development. Thuris has also won 510(k) FDA marketing clearance for a medical device to aid clinical trial enrollment and serve as an endpoint tool in Central Nervous System disorders. The non- invasive device will also help psychiatrists and neurologists to diagnose a broad range of brain-related conditions.
Thuris' drug development efforts originated from the company's in vitro and in vivo animal models that recreate the hallmarks of major neurodegenerative diseases in just days -- a significant leap forward for neuroprotective drug development.
Such advances have enabled Thuris to focus on developing mechanism-based compounds to treat select Orphan indications, Alzheimer's and Mild Cognitive Impairment. Thuris intends, through its co-development partnerships, as well as with its own in-house drug leads, to forward multiple anti- neurodegenerative therapeutics to the clinic. To this end, Thuris has partnered with Cephalon (USA; www.cephalon.com), PRAECIS Pharmaceuticals (USA; www.praecis.com), D-Pharm (Israel; www.dpharm.com), Sigma-Tau Pharmaceuticals (Italy; www.sigma-tau.it); the Chinese National Center for Drug Screening, SiniWest China, and Degussa BioActives (Germany; www.degussa.com).
Thuris has also successfully developed a non-invasive medical device that will help diagnose psychiatric and neurological disorders over a broad range of brain-related conditions. Marketing clearance has been received from FDA for the device as a diagnostic aid for Central Nervous System disorders. Partners include RGM Electronics (Italy). Clinical trials are ongoing, and a beta version of the device will be sold in Italy in the third quarter of 2004. The NeuroGraph will be ready to use as a clinical trial enrollment and endpoint tool in July 2004.
For further information, please contact:
Keith B. Hoffman, Ph.D.
Chief Operating Officer
Tel: 949-417-4623
www.thuris.com
Posted by Dave at 11:12 PM | Comments (0) | TrackBack
June 23, 2004
HD Research May Benefit RTS
Drugs being tested for use on Huntington's Disease is showing success against Rubinstein-Taybi syndrome (RTS).
Here's the press release:
Mutant mice lead to memory insights
Two strains of mutant mice with crippled versions of a key memory molecule have led researchers to an understanding of both normal memory function and the memory problems that plague sufferers of an inherited disorder.
The researchers said their findings suggest that drugs already being tested for cancer and Huntington's disease might be useful in restoring some memory capability to patients with Rubinstein-Taybi syndrome (RTS). RTS is a heritable disorder characterized by mental and growth retardation and skeletal abnormalities. In humans, RTS occurs in about one in 125,000 births. The researchers propose that their findings could lead to treatments for RTS and other memory disorders as well as a means of improving memory in otherwise healthy individuals.
Two groups of researchers independently studied mutant mice deficient in "CREB binding protein" (CBP), which is a common target in patients with RTS. CBP is so named because it binds a key gene-regulating protein called CREB that is important for many functions including memory in animals from mollusks to humans.
CBP is a particularly hard-working protein. It serves as a molecular scaffold that helps assemble the machinery of gene transcription known to be necessary for formation of long-term memories. And critically, CBP acts as an enzyme that transfers acetyl groups onto the histone proteins that are part of the chromatin enfolding DNA in the chromosomes. Such acetylation is a central process in remodeling the chromatin to prepare the chromosome for gene transcription.
In one paper, Eric Kandel and his colleagues studied a mutant mouse -- developed in another laboratory -- in which one of the two copies of the gene for CBP had been knocked out. Such "haploinsufficiency" is thought to be a good animal model for Rubinstein-Taybi syndrome, because it mimics many of the symptoms of the disease.
In their studies, the researchers sought to understand whether such haploinsufficient mice showed the same kinds of memory defects as people with RTS. In particular, the scientists found that the mutant mice showed an impaired long-term memory. They were less able than normal mice to remember having encountered novel objects in their environment and less able to remember that a specific environment or tone would be associated with a mild but unpleasant shock.
Kandel and colleagues also found alterations in the brain circuitry of the mutant mice that suggested impairment of the machinery of long-term memory storage.
Importantly, they also found evidence that restoring the acetylation activity might alleviate such memory problems. In those experiments, they administered both to brain slices from the mutant mice and to the mice themselves a drug that inhibits de-acetylation -- thereby maintaining a higher level of acetylation of histones. They found that the circuitry of the brain slices returned to normal, and the mutant mice that received the drug showed a reversal of their memory deficits.
"Our study therefore suggests that it might be possible to use the same … inhibitors that are currently being tested in cancer and Huntington's disease as therapeutic compounds for RTS," wrote the researchers.
In the other paper, Edward Korzus and his colleagues created a sophisticated knockout mouse to pinpoint whether CBP's role in histone acetylation is central to its function in forming long-term memories. Their mutant mouse was constructed such that the researchers could switch on a "dominant-negative" form of the CBP gene -- which would eliminate normal gene function -- only in adult mice and only in the brain region known to be involved in memory formation. They could also switch this gene off, restoring normal CBP gene function. Importantly, the protein made by this dominant-negative CBP gene lacked only the ability to add acetyl groups to histone proteins -- called acetyltransferase activity -- but retained the ability to act as a molecular scaffold.
The researchers found that when they switched on the "bad" CBP gene, the mice showed impaired ability to form long-term memories of novel objects or the position of a submerged platform in a water tank. However, when they switched off the bad gene, the mice showed normal long-term memory formation.
In experiments similar to those of the Kandel group, Korzus and his colleagues also found that a drug that inhibits the removal of acetyl groups from histones restored long-term memory formation in the animals.
"The observation that acetyltransferase activity plays a critical role in memory consolidation may open new avenues for the investigation and treatment of memory disorders as well as provide new opportunities for memory improvement," wrote the researchers.
###
Juan M. Alarcón, Gaël Malleret, Khalid Touzani, Svetana Vronskava, Shunsuke Ishii, Eric R. Kandel, and Angel Barco: "Chromatin Acetylation, Memory, and LTP Are Impaired in CBP+/- Mice: A Model for the Cognitive Deficit in Rubinstein-Taybi Syndrome and Its Amelioration"
Edward Korzus, Michael G. Rosenfeld, and Mark Mayford: "CBP Histone Acetyltransferase Activity Is a Critical Component of Memory Consolidation"
Related Preview by Kelsey C. Martin and Yi E. Sun: "To Learn Better, Keep the HAT on"
Published in Neuron, Volume 42, Number 6, June 24, 2004.
Posted by Dave at 11:03 PM | Comments (0) | TrackBack
June 22, 2004
Huntington's, Alzheimer's, & Heart Disease?
Protein clumps (amyloids) are a core feature of Huntington's Disease. Researchers recently found a similar process in Alzheimers. Now researchers have found these clumps in heart disease.
It seems every day we find new evidence of Huntington's Disease research lending itself to helping find cures for much more common diseases. With these findings we should see more research in other diseases that will aid Huntington's research. This is good news.
Oh, did I say heart disease? Yep. Here's the article and an excerpt:
Similar toxic protein clusters appear in the brains of patients with Huntington's disease and Parkinson's disease, note Jeffrey Robbins, PhD, director of molecular cardiovascular cardiology Cincinnati Children's Hospital, and colleagues.
Now, Robbins says, beta amyloids cluster in the heart muscle cells of people with heart failure.
"The surprising thing is, I don't think anyone really expected to find toxic beta amyloids inside of [heart-muscle cells]," Robbins says in a news release.
Posted by Dave at 11:05 PM | Comments (0) | TrackBack
June 21, 2004
More On The Alzheimer's Link
The Sydney Morning Herald has an article on the surprise finding about the similarity found between Huntington's Disease and Alzheimer's.
New Zealand scientists have opened a new frontier in the search for a cure for Alzheimer's disease by pinpointing a mutant protein similar to the one known to cause Huntington's disease.
Auckland University researchers working with British counterparts have found an insoluble form of a protein known as TBP is present in large amounts in the brains of Alzheimer's patients.
Their findings, after five years of research, have just been published in the American journal Molecular Brain Research and are expected to prompt a worldwide rethink about the likely causes of the degenerative brain disease.
Posted by Dave at 11:48 PM | Comments (0) | TrackBack
June 20, 2004
Happy Father's Day!
Today's been a full day, so no new articles. I hope the holiday went well for everyone.
Posted by Dave at 11:08 PM | Comments (0) | TrackBack
June 19, 2004
Camp Squamish
The Huntington's Disease Advocacy Center has a wonderful article on Camp Squamish - a camp for those with Huntington's Disease.
This was written by one of the participants and it is a good read. Here's a teaser so you'll read the whole thing:
"For myself I had quite a few deep and meaningful conversations and came away from camp with a different perspective on many things. Some people have the power to change the way we look at things, by sharing of themselves or helping us to see things we have missed. They say to be a well rounded person everyone needs at least one person in their lives that will be completely honest with them. I am lucky I have several."
Posted by Dave at 11:36 PM | Comments (0) | TrackBack
June 18, 2004
Minocycline
A pilot study testing HD patients tolerance to minocycline was just published. The results were as expected..."no serious adverse events were noted".
Now the drug, which has shown promise in slowing down HD in animals, can proceed to more human testing. Here's the study abstract:
Mov Disord. 2004 Jun;19(6):692-5.
Minocycline in Huntington's disease: A pilot study.
Thomas M, Ashizawa T, Jankovic J.
Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
Minocycline is a caspase inhibitor, decreases inducible nitric oxide synthase (iNOS), and has been shown to delay disease progression in the mouse model R6/2 of Huntington's disease (HD). This safety and tolerability study included 30 patients with HD who were given minocycline over a 6-month period and underwent assessments every 2 months with laboratory studies, the Abnormal Involuntary Movements Scale, the Unified Huntington's Disease Rating Scale, and the Mini-Mental State Examination. Minocycline was well tolerated during this study period and no serious adverse events were noted. Copyright 2004 Movement Disorder Society
PMID: 15197710
Posted by Dave at 10:33 PM | Comments (0) | TrackBack
June 17, 2004
Nancy Wexler
If you made a list of the individuals who made the most difference in the search for a cure for Huntington's Disease, you would have to include Nancy Wexler somewhere at the top of the list.
At this years HDSA convention there was a silent auction for the NYA (National Youth Alliance). Nancy Wexler bought a quilt for $700!
So you know...NYA designated $3500 for research, which HDSA has donors who will triple that amount in matchin funds ($14,000 total). NYA also designated $4,450 to the 2005 NYA Convention Scholarship Fund.
Posted by Dave at 07:35 PM | Comments (0) | TrackBack
June 16, 2004
Alzheimer's Polyglutamine Connection
Huntington's Disease is a 'polyglutamine' disease. That is, the DNA codes a string of glutamine that is too long in the gene responsible for the huntingtin protein.
Researchers have found that in Alzheimer's there is a string of glutamine that is too long in an important transcription factor - TATA binding protein (TBP). It's possible (though far from probable at this point) that down the road the gene therapy work being done for HD may lead to a cure for Alzheimers.
Perhaps this finding will cause more money to be poured into polyglutamine research. Here is the study abstract (hat tip to Malcolm C. for pointing this article out):
Brain Res Mol Brain Res. 2004 Jun 18;125(1-2):120-8.
TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.
Reid SJ, Van Roon-Mom WM, Wood PC, Rees MI, Owen MJ, Faull RL, Dragunow M, Snell RG. Department of Pharmacology, University of Auckland, Auckland, New Zealand.
Alzheimer's disease (AD) is characterised by extra cellular beta-amyloid (betaA) deposition, Tau-containing neurofibrillary tangles (NFTs) and progressive cortical atrophy. Abnormal protein accumulation is also a common feature of other late onset neurodegenerative diseases, including the heritable polyglutamine (polyQ) disorders such as Huntington disease (HD) and the spinocerebellar ataxias (SCAs). One of this family of disorders, SCA17, is caused by an expansion of a polymorphic polyQ repeat in TATA binding protein (TBP), an essential transcription factor. Surprisingly, the wild type TBP repeat length ranges from 25 to 42, and in Caucasian populations the most common allele is 38, a size large enough to cause HD if within the huntingtin protein. Wild type length TBP accumulates in HD and in at least some of the SCAs, and consequently we hypothesised that it may contribute to AD. Here we provide evidence that TBP accumulates in AD brain, localising to neurofibrillary tangle structures. A proportion of TBP present in AD brain is insoluble; a signature of the polyQ diseases. TBP is present differentially between patients and its amount and distribution is not directly proportional to that of Tau or beta-amyloid positive structures. We present this as evidence for the hypothesis that the accumulation or misfolding of this polyQ containing protein may be a contributing factor in Alzheimer's disease.
Posted by Dave at 09:29 PM | Comments (0) | TrackBack
June 15, 2004
3,000 Brains
Here's a very interesting article on Harvard's brain bank.
They still need more HD donors and, suprisingly, they need non-hd donors also (for comparison).
Posted by Dave at 05:19 PM | Comments (0) | TrackBack
Thanks Motorola
For hiring such a wonderful employee...
Motorola Senior Vice President Bill Spencer is going to cover the costs of Brittany Chamberlain to go to Los Angles and carry the Olympic torch. He's also going to buy the torch for her.
Why did he do such an incredible thing?
Because this young lady, who is attending BYU, has been taking care of her mother for the last 11 years. Her mother has Huntington's Disease. From the article:
Spencer said he was inspired by Brittany's perseverance. "Obviously, in a sense, she is keeping the family together," he said.
Posted by Dave at 05:15 PM | Comments (1) | TrackBack
June 14, 2004
Domestic Terrorists Charged
It's about time.
Domestic terrorists have been threatening research facilities that are working for cures to incurable diseases such as Huntington's disease. The government is starting to take action against these organizations. An excerpt from a recent article:
Federal authorities in New Jersey and three other states charged that the defendants, six men and one woman, belonged to SHAC and had engaged in acts that included vandalism, sending threatening letters, making threatening phone calls, home invasions, and physical assaults. "Their business, quite frankly, is thuggery and intimidation", said US Attorney Christopher Christie at a press conference following the indictments.
The domestic terrorism perpetrated by groups like SHAC, the Animal Liberation Front (ALF), and Earth Liberation Front (ELF), has until now involved 190 investigations into their activities, but with the exception of one or two among them, has not resulted in the kind of arrests that made headlines.
SHAC was formed in 1999 in England to put the parent company of Huntingdon out of business and this company's business is the vital testing of new life saving pharmaceuticals. Its US laboratory in Somerset County, New Jersey, like its British counterpart, uses thousands of animals, mostly rats, for such testing. The five-count indictment asserts that the defendants crossed the line from civil demonstration to domestic terrorism, i.e., criminal acts.
Tracking down the members of ALF and ELF has taken on a new priority among federal law enforcement authorities. These and other domestic terrorists have committed more than 1,100 criminal acts in the United States since 1976, resulting in damages that are conservatively estimated at $110 million. In August 2003, they burned to the ground a 206-unit apartment complex that was under construction in San Diego, causing $50 million in damage. That same month, a bomb exploded at the biotech Chiron Corporation's Emeryville, California, business office. There were no casualties, but the bomb did a lot of property damage. In September, ALF terrorists destroyed much of the Louisiana State University School of Veterinary Medicine's office in Baton Rouge.
In April 1999, ALF terrorists vandalized a cancer research center at the University of Minnesota, destroying the work of university researchers seeking ways to treat brain tumors.
Posted by Dave at 04:17 PM | Comments (0) | TrackBack
June 13, 2004
This Sounds Familiar
In the past week, since President Reagan died from Alzheimers, there has been a lot written about the disease. One thing that struck me was how much sounds like what we hear in our community.
Here is what Reagan's daugher wrote in Newsweek about her family's experience with Alzheimers:
We were just one family that had been struck by this disease; there were so many others. At that time many of them—most of them, actually—suffered silently. They were embarrassed by an ailment that relentlessly burns through the one thing we all rely on to define us—the mind...
We didn't know as a family what to expect. No one could tell us—not really. Doctors gave out little pamphlets that didn't help very much—clinical explanations and dire predictions. The stages of the disease were numbered, as if Alzheimer's followed a map, a paint-by-numbers pattern. As if it had some kind of protocol to it. My family learned what other families have learned all too well: there is nothing predictable about Alzheimer's. It claims every individual differently. Sometime in the past 10 years, a saying has evolved about the disease: if you've seen one person with Alzheimer's, you've seen one person with Alzheimer's.
In some ways, we were lucky. My father never had episodes of violent frustration, although it's understandable that many people do. Memories are being incinerated, turned to ash and dust. There is no cure, no medicine to vanquish the vanquisher. Alzheimer's always wins in the end.
Posted by Dave at 08:40 AM | Comments (0) | TrackBack
June 12, 2004
HD Scientist Knighted
The Queen of England has knighted Dr. Peter Harper for his decades of work on Huntington's and other inheritied diseases. From the article:
"When I started there was very little you could do.
"You could give the right genetic information but it was very limited - there were no genetic tests and little understanding of what was causing these diseases.
"But now we can deal with most conditions, we have tests that confirm risks and we're now at the exciting stage where we're starting to see therapies being developed."
Sir Peter and his team's particular achievements have included important international discoveries concerning muscular dystrophies and Huntington's disease.
Posted by Dave at 11:08 PM | Comments (0) | TrackBack
June 11, 2004
HDSA Convention
Tomorrow starts the annual HDSA convention in St. Louis. This one has the makings of being the best one yet. This has been a great year in HD research and there is a lot in the works. It will be exciting to hear what comes out of this convention.
For those who haven't followed...Marie Nemec is on Day 25 of her Bike for the Cure HD bicycle ride to St. Louis for the convention. From the sounds of it, it has been a great fund raiser and awareness raiser. From her descriptions, it sounds like every day has been an adventure. If you see her in St. Louis please congratulate her for me!
Posted by Dave at 07:44 PM | Comments (0) | TrackBack
June 10, 2004
More On The Gene Therapy News
The journal Nature has the best writeup yet that I've seen on the University of Iowa's breakthrough. The title of the article is Cure Hoped For Huntington's Sufferers.
Here are excerpts from the article:
"Most gene therapy involves replacing a missing gene sequence. But in dominant disorders it is the mutant sequence itself that causes the problem, so any therapy needs to actively block a sequence rather than just replacing one.
To do this in the mice, Davidson’s team used a technique called RNA interference. The researchers isolated pieces of genetic material that bind to and block the mutant gene. They packaged these into stripped-down virus particles and injected them into the mice. The virus used was an adeno-associated virus that does not cause disease in mice or people.
After the injections, the proteins created by the mutant gene disappeared and the mice seemed to improve, the researchers told the annual meeting of the American Society of Gene Therapy in Minneapolis, Minnesota last week.
....
Davidson says she hopes that her technique will move quickly into clinical trials. “The data are very promising; we hope we will be able to use RNA interference as a therapy for dominant neurodegenerative diseases.”
Posted by Dave at 04:26 PM | Comments (0) | TrackBack
June 09, 2004
Human HD Cells Stopped In Lab
"Gene therapy offers cure for Huntington's disease!"
That's the headline of this WebIndia123.com article on the gene therapy advances for Huntington's Disease. Specifically, this is about the SCA-1 announcement the other day that has such exciting news. Here's a few highlights from this article:
"The researchers reported that after the injections, the proteins created by the mutant gene disappeared and the mice seemed to improve considerably.<b>They also said that RNA interference stopped human cells in culture dishes from producing the mutant proteins found in Huntington's disease.
Davidson hopes her technique will now move quickly into clinical trials. "The data are very promising. We hope we will be able to use RNA interference as a therapy for dominant neurodegenerative diseases," he said. "
Posted by Dave at 07:29 PM | Comments (0) | TrackBack
HD Writer on NPR Today
The writer of "It's A Bird", Steven Seagle, will be on NPR's Fresh Air today.
"It's A Bird" is a semi-autobiographical graphic novel about a comic book writer who is given his dream job of writing Superman at the same time he must deal with the specter of Huntington's Disease in his family.
You can read more on this graphic novel here.
Posted by Dave at 05:35 AM | Comments (0) | TrackBack
June 08, 2004
More Good News
Just a few days ago I posted the 'Success' article on the University of Iowa's success with using RNAi to successfully treat a disease very similar to Huntington's disease.
Today Sirna Therapeutics has announced that they are collaborating with the University of Iowa on pursuing this RNAi treatment on Huntington's Disease. They have already successfully tested this in the petri dish and are currently in the process of testing 'in-vivo' (most likely HD mice).
All signs point to Sirna making this a development priority and they also appear to be financially capable to bring this therapy to market. Assuming successful in-vivo testing (very likely), we could see Phase I human tests with 18-24 months. This treatment would qualify for FDA 'fast track' testing.
We are getting closer!
Tuesday June 8, 8:55 am ET
Sirna Licenses Fundamental Intellectual Property on CNS Targets for RNAi Therapeutics
BOULDER, Colo., June 8 -- Sirna Therapeutics, Inc. (Nasdaq: RNAI - News) today will announce in a corporate presentation at the BIO 2004 Annual International Convention that the Company is evaluating the potential application of RNA interference-based therapies in diseases of the central nervous system (CNS), specifically, Huntington's Disease. Sirna has initiated a research collaboration with Dr. Beverly Davidson, Roy J. Carver Professor in Internal Medicine at the University of Iowa. Sirna has already demonstrated siRNA-mediated knockdown of Huntington's Disease gene expression in cell culture in collaboration with Dr. Davidson and efficacy studies in validated in vivo models are currently in progress. In addition, Sirna has in-licensed key patents from the University of Iowa Research Foundation covering neurological disease targets using RNAi technology, including those relating to Huntington's Disease. This license combined with Sirna's broad intellectual property on RNAi technology and Huntington's Disease provides Sirna a strong patent position in this important therapeutic area.
Howard Robin, Sirna's President and Chief Executive Officer, commented, "We believe that localized delivery of siRNAs may be an effective means of addressing devastating diseases of the CNS. In the case of Huntington's Disease, there is a clearly validated target to attack with siRNAs -- the polymorphisms in the Huntington's Disease gene. This builds on our strategy of applying our expertise in RNA chemistry, biology and pharmacology to validated therapeutic targets in areas of significant unmet medical need. Dr. Davidson is one of the leading scientists in the field of Huntington's Disease research, and we are very excited to be collaborating with her in this program."
About Sirna Therapeutics
Sirna Therapeutics is using its proprietary technology and expertise in nucleic acids to develop a new class of nucleic acid-based therapeutics involving RNA interference. RNAi is a mechanism used by cells to regulate the expression of genes and replication of viruses. The RNA interference mechanism uses short interfering RNA (siRNA) to induce the destruction of target RNA using naturally occurring cellular protein machinery. Harnessing the natural phenomenon of RNAi holds potential for the development of a new class of drugs with specificity towards a wide range of diseases that result from undesirable protein production or viral replication. More information on Sirna Therapeutics is available on the company's web site at www.sirna.com.
Statements in this press release which are not strictly historical are "forward-looking" statements which should be considered as subject to many risks and uncertainties, including early stage of development and short operating history, ability to achieve and maintain profitability, ability to obtain and protect patents, risk of third-party patent infringement claims, ability to engage collaborators, ability to obtain regulatory approval for products, concentration of stock ownership, and availability of materials for product manufacturing. These and additional risk factors are identified in the Company's Securities and Exchange Commission filings, including the Forms 10-K and 10-Q and in other SEC filings. Sirna undertakes no obligation to revise or update any forward-looking statements in order to reflect events or circumstances that may arise after the date of this release.
For further information, please contact: Howard W. Robin, President & CEO of Sirna Therapeutics, Inc., +1-303-449-6500; or Investors, E. Blair Schoeb, or Media, Justin Jackson, both of Burns McClellan, Inc., +1-212-213-0006, for Sirna Therapeutics, Inc.
Posted by Dave at 08:41 AM | Comments (0) | TrackBack
June 07, 2004
Huntington's Hero Of The Year
The selection for the 2004 Huntington's Hero Of The Year Award was just announced on the Hunt-Dis list. This is an award that is given every year by members of the Hunt-Dis email list.
This year the award was given to Jerry Lampson for all the work he has done for the HD community which includes the HD Lighthouse. It's a shame that he passed before he could learn of this honor but there is no doubt he knew how much his work was appreciated. For those not on the list here's the announcement:
The 2004 Huntington's Hero of the Year Award voting has concluded.
Thanks to each of you who took the time to submit nominations and vote
in the preliminary and final rounds.
As a tribute to the amazing work of the three nominees, the voting was
very close. After the final count, Jerry Lampson had the most votes
and is honored as the 2004 Huntington's Hero of the Year. Having
Jerry as the winner is all the more poignant given his recent passing.
We are including Jerry's nomination messages again to remind each of
us about the legacy of his efforts.
Jerry Lampson:
1) I hereby nominate brother Jerry Lampson for the 2004 Huntington's
Hero of The Year Award because he has given thousands of hours to the
HD Lighthouse while shunning recognition of any kind. In the face of
attacks by powers-that-be he has endured challenging the status quo of
research, setting a new agenda and digesting its relative significance
for us layfolks. After he lost his wife to HD he consciously chose to
stick with the cause for all the others touched by this frickin' HD.
There's nothing fuzzy and hearts & flowers about Jerry online but I
dare say none of us has given more volunteer hours of labor to the
cause (and taken a ration of excrement for it at times) than Jerry.
This guy is among most selfless advocates in this community. I've
never met Jerry in person. I've never spoken to him on the phone.
We've swapped less than a dozen e-mails over the years. But among the
many I admire profoundly, he is my most deserving Hero. I hate awards
like this but if this is what it takes to recognize this body of work
and the person who created it, so be it. Jerry Lampson, HD hero.
Don't you agree?
2) Jerry's HD Lighthouse web site has been visited by more people more
often than all the other HD sites combined. He has volunteered his
time, money, and love to provide all kinds of support and information
to HD persons and families. This he has done for more years than
anyone else I can think of. His skill and passionate caring has
helped a whole generation of HD and given voice to many who would or
can not speak for themselves.
Your 2004 Committee for the Louise Wilkinson Huntington's Disease
Convention Scholarship Fund
Posted by Dave at 09:21 AM | Comments (0) | TrackBack
June 06, 2004
Ronald Reagan
As you have almost certainly heard...President Ronald Reagan passed away this weekend from Alzheimers Disease at the age of 93.
His battle with Alzheimers has brought a lot of attention to the disease and research dollars. In 1995, Reagan and his wife created the "Ronald and Nancy Reagan Research Institute". In many ways, this has helped research in diseases such as Huntington's Disease. Here is an excerpt from an Institute press release:
Creation of the Reagan Institute, with its focus on cutting-edge, basic science, helped direct evolution of the biological segment of our program toward funding innovative explorations aimed at precise molecular targets.
Projects in the Institute are selected by senior science staff to highlight creative approaches to core areas of inquiry, including processing and pathology of amyloid and tau; other key cellular processes and pathways; genetics; animal models; inflammation and oxidative stress; and synergistic effects of vascular factors.
Posted by Dave at 01:03 AM | Comments (0) | TrackBack
June 05, 2004
Brain Scaffolding
Sometimes I'm amazed at the ingenuity of researchers. From a news article:
"Researchers have designed a system of tiny scaffolding to be injected into the brain of Parkinson's patients and help reconnect nerves that have disintegrated.
Along with colleagues at Melbourne's Monash University, PhD student Kylie Compton has created a gel-like substance that builds its own fine, soft scaffold when it warms up to normal body temperature....If successful, the scaffolding gel could be used as the basis for treating a variety of other conditions.
"Any disease that needs a neuron (nerve) track to be guided such as Huntington's disease and other neurodegenerative diseases," Ms Compton said."
Posted by Dave at 10:39 PM | Comments (0) | TrackBack
June 04, 2004
Success!
This is VERY GOOD NEWS for those in the Huntington's Disease community.
Researchers used gene therapy to successfully treat, for the first time ever, a mouse with a dominant neurodegenerative disease. The disease they treated was Spinocerebella ataxia type 1 (SCA1) which is caused, just like Huntington's Disease, by a polyglutamine expansion in the affected gene.
The was accomplished by the fine folks at the University of Iowa, one of the hotbeds for Huntington's research. They used the recently discovered technique of gene silencing (RNAi) to accomplish this feat.
The money quote: "The research provides hope for rapidly progressing towards a clinical trial for inherited dominant neurodegenerative diseases such as SCA1 and Huntington's disease."
Here's the relevant excerpts of press release from the American Society of Gene Therapy:
New Research on the Progress of Gene Therapy Presented at the ASGT 7th Annual Meeting
Friday June 4, 8:01 am ET
Gene Therapy Successful in Treating Neurodegenerative Disease
MINNEAPOLIS, June 4 -- For the first time, a dominant neurodegenerative disease has been successfully treated using gene therapy, according to a study presented today at the 7th Annual Meeting of the American Society of Gene Therapy (ASGT).
A research team led by Beverly Davidson, University of Iowa, investigated gene silencing by RNA interference (RNAi) as a potential therapy for Spinocerebella ataxia type 1 (SCA1), a dominant neurodegenerative disease caused by the expansion of the polyglutamine tract within the gene called ataxin-1. These are the same mechanisms underlying Huntington's disease, an inherited degenerative neuropsychiatric disorder which affects both body and mind.
Using RNAi expressed from within Adeno Associated Virus (AAV) vectors, researchers showed anatomical, pathological and functional protection from the inherited neurodegeneration in SCA1 transgenic animals. AAV vectors are present in many humans, but have never been associated with any disease, making them an excellent gene transfer vehicle.
The research provides hope for rapidly progressing towards a clinical trial for inherited dominant neurodegenerative diseases such as SCA1 and Huntington's disease.
Researchers explore effective gene transfer method
Researchers have found that a single IV injection of a new gene delivery vehicle will effectively deliver genes to the majority of muscle cells in the body, including those within the heart muscle. These findings were presented today at the 7th Annual Meeting of the American Society of Gene Therapy (ASGT).
The results may provide a practical solution to the problem of how one might deliver gene therapy for the most common form of muscular dystrophy, a disease that causes progressive weakness of most of the muscles, including the heart.
Paul Gregorevic, PhD, and colleagues from the Muscular Dystrophy Co- operative Research Center at the University of Washington used a newly characterized harmless virus, called adeno-associated virus type 6 (vAAV6) in a new manner. Instead of doing a large number of injections into individual muscles, researchers were able to get a similar result by injecting a single bolus of the rAAV6 into a vein of a mouse. The virus was then able to spread through the bloodstream to deliver genes to the heart and most of the other muscles throughout the body.
Previous attempts at such a gene therapy in mice approached the problem by doing scores or even hundreds of injections into all of the various muscle groups, including the diaphragm and muscles in the trunk and limbs.
Studies are currently underway to demonstrate the corrective effects in mice with muscular dystrophy and could potentially improve the prospects that a practical treatment for the disease will emerge within the next several years.
Posted by Dave at 07:39 AM | Comments (1) | TrackBack
June 03, 2004
Naked DNA Therapy
No, it's not what you think. It's the DNA that is "naked".
FuturePundit reports an exciting finding on DNA therapy delivery. Here's a key section:
"In the experiments, the scientists did not use viruses to carry genes inside cells, a path many other groups have taken. Instead, they used “naked” DNA, an approach Wolff has pioneered. Naked DNA poses fewer immune issues because, unlike viruses, it does not contain a protein coat (hence the term “naked”), which means it cannot move freely from cell to cell and integrate into the chromosome. As a result, naked DNA does not cause antibody responses or genetic reactions that can render the procedure harmful.
"Researchers rapidly injected “reporter genes” into a vein in laboratory animals. Under a microscope, these genes brightly indicate gene expression. A tourniquet high on the leg helped keep the injected solution from leaving the limb.
“Delivering genes through the vascular system lets us take advantage of the access blood vessels have — through the capillaries that sprout from them — to tissue cells...”
No word on whether this delivery system can be adapted for the brain but each new discovery brings us that much closer to a cure. Read the whole article.
Posted by Dave at 09:35 PM | Comments (0) | TrackBack
June 02, 2004
Sad News - Jerry Lampson
I am shocked and saddened to hear the Jerry Lampson has passed away. Jerry's website "The HD Lighthouse" has been a godsend for so many over the years. Here is an obituary written by Dr. Marsha Miller. The original can be found on the excellent HDAC website.
The Huntington’s Disease community lost one of its greatest warriors with the passing of Gerald (Jerry) Lampson on May 31, 2004, after a short battle with cancer. Jerry was the founder and webmaster for the Huntington’s Disease Lighthouse, one of the earliest and most influential HD websites. He believed that hope, as well as exercise, spirituality, and diet were the keys to living positively and proactively with Huntington’s Disease. Most importantly, he believed in knowledge. He spent much time searching out and posting information about Huntington’s Disease so his readers could make informed decisions about what they could do now to remain healthy.
He started the Lighthouse in 1997 to have a permanent place for the information he was finding and sharing with the staff at his wife’s nursing home and his ‘family’ on the Hunt-Dis list. He was astonished at how important the site quickly became throughout the entire HD community and never fully understood how much he had contributed to the development of the online community itself as well as its members’ positive attitude towards living with the disease.
A very private person, Jerry did not want anyone to know that he was ill because he never wanted the focus to be on him but rather on the Huntington’s Disease cause. Nevertheless, he knew his friends at the Lighthouse and on the lists were worried about him and he was warmed by their love and concern.
Jerry was born in Sacramento, California on July 8, 1933. An engaging child, he was entered into a baby contest by his mother and holds the title of ‘Baby Prince of Sacramento County.’
From 19952-55, Jerry served in the U.S. Marine Corps. In 1959 he received his Bachelor’s Degree in Electrical Engineering from the University of California at Berkeley. From 1959-1961 he was a member of the technical staff at AT&T Research in New Jersey and received his Master’s in Electrical Engineering at New York University in 1961.
Returning from the East Coast to the West, Jerry then worked as a design engineer for McDonnell Douglas in LA from 1961-64 and chief engineer for 3M Instrumentation in Camarillo from 1964-66. From 1966 through 1974, he was the co-founder and chief electrical engineer for Data Science Corporation. He was chief engineer for Borg Warner from 1974-1976. He was co-founder and chief electrical engineer for Novatek from 1976 - 2004.
Jerry’s career in electrical engineering was indeed very successful but the Berkeley emphasis on social activism must have remained with him as well. Once his beloved wife Peggy was diagnosed with Huntington’s Disease in 1986, he went into warrior and activist mode and never came out. His love and devotion to Peg was an inspiration to all of us. Jerry lost Peg on April 1, 2000, but carried on his HD work in her memory and for the community.
Jerry’s interests were in the Internet, endurance sports, and his two dogs.
Jerry is survived by his stepson, Scott, and his best friend, Jan Jones. Jan was able to spend a week with Jerry shortly before he passed away and Scott was able to be there at the end. Jerry had recently moved to Idaho to be closer to Scott and hoped to discover new trails to wander. He remained cheerful and kept his sense of humor to the end. He instructed that he be cremated and his ashes scattered along a ‘nice trail.’ Jerry’s friends and extended family in the HD community will remember him for his tireless dedication, his happy warrior spirit, his love of a great debate, and his extraordinary success at getting HD information -- getting it right, getting it early and getting it out there.
Condolences should be sent to:
Scott and family
P.O. Box 100
Osburn, ID 83849
Or e-mailed to scottandjeri 'at' usamedia 'dot' tv .
Contributions in his memory can be sent to
The Huntington's Disease Drug Works
17171 Bothell Way, PMB 148
Lake Forest Park, WA 98155.
The Lighthouse will continue in one form or another and information will be forthcoming soon. As Jerry has requested, keep the beacon on and the light of hope burning!
Posted by Dave at 06:05 AM | Comments (0) | TrackBack
June 01, 2004
Legislative Alert
This doesn't come soon enough and we need it. Here's the release from HDSA:
Senator Bingaman (D-NM) recently introduced legislation to amend Title II of the Social Security Act to phase out the 24-month waiting period for individuals who receive Social Security Disability (SSDI) benefits to qualify for Medicare coverage, as well as to eliminate any waiting period for those individuals with life-threatening conditions.
For the rare disease community, it is a fast-track provision that will allow those with life-threatening illnesses to get immediate coverage before the waiting period phases out. In Section 3 of the proposed legislation, "For purposes of identifying life-threatening conditions under paragraph (1), the Secretary shall compile a list of conditions that are fatal without medical treatment. In compiling such list, the Secretary shall consult with the Director of the National Institutes of Health (including the Office of Rare Diseases), the Director of the Centers for Disease Control and Prevention, the Director of the National Science Foundation, and the Institute of Medicine of the National Academy of Sciences."
We urge you to contact your Senators today asking that they contact Senator Bingaman's office to become an original cosponsor to this important legislation. The contact in Senator Bingaman's office is Bruce Lesley, (202) 224-5521.
Posted by Dave at 08:21 PM | Comments (0) | TrackBack