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September 30, 2003
Big News From NIH
Today the National Institutes of Health (NIH) made a major announcement with huge implications for Huntington's Disease research. NIH is restructuring in order to bring speed up research and get new help to patients sooner.
Here are some of the highlights of the announcement:
1.) Creation of a small molecule library that will be open to all researchers. Most promising avenues for treatment of Huntington's Disease involve the use of small molecules at some point.
2.) Creation of a new center to develop the new tools and technologies to identify biological pathways and develop treatments that involve these pathways. This would naturally include the huntingtin protein which is involved in pathways and the related disease - Huntington's Disease.
3.) Creation of a gallery of proteins in the body such as the huntingtin protein.
4.) Creation of a center that will develop research software tools that can be utilized by researchers with less computational resources. Since much of the research on Huntington's Disease is done in environments with limited resources this could be a great help.
5.) Creation of a nanomedicine center which help in understanding the interaction of the huntingtin protein inside the mitochondria of neural cells. Resulting technology could even play a part in the delivery of a treatment for Huntington's Disease.
6.) New support for high risk research. This is to benefit research that breaks new ground which is much of what is going on in Huntington's Disease research.
7.) Improved support and better communication for interdisciplinary research such as Huntington's which involves genetics, neurology, psychiatric, basic science, and more.
8.) Support and development of Public/Private partnerships to speed up bioresearch. An example of this is PharmaStart which was mentioned here previously.
9.) Streamlining clinical research to improve consistency and sharing of information.
This initiative will have the effect of pouring millions of dollars into Huntington's Disease research and could shave years off of the time it takes to create an effective treatment or cure for Huntington's Disease (and many other diseases also). This really is big news!
You can read about the details on the NIH website. You can also read news articles here, here, here and here.
Here is the official press release:
NIH Announces Strategy to Accelerate Medical Research Progress
Washington, D.C. — In a move to transform the nation’s medical research capabilities and speed the movement of research discoveries from the bench to the bedside, National Institutes of Health (NIH) Director Elias A. Zerhouni, M.D., today laid out a series of far-reaching initiatives known collectively as the NIH Roadmap for Medical Research.
Soon after becoming NIH Director in May 2002, Dr. Zerhouni convened a series of meetings to chart a “roadmap” for medical research in the 21st century — a process that identified major opportunities and gaps in biomedical research that no single institute at NIH could tackle alone, but that the agency still needed to address.
“NIH must lead the way in instituting the changes in medical research necessary to improve the health of all Americans,” HHS Secretary Tommy G. Thompson said. “It is clear that NIH has a compelling vision for the future of medical research and what will have the most profound impact on research and most importantly the health of all Americans.”
“There has been a scientific revolution in the last few years. The opportunities for discoveries have never been greater, but the complexity of biology remains a daunting challenge. With this new strategy for medical research, NIH is uniquely positioned to spark the changes that must be made to transform scientific knowledge into tangible benefits for people,” said Dr. Zerhouni.
“We have made remarkable progress in medical research in recent decades, and NIH-led research has changed the landscape of many diseases. However, very real — and very urgent — needs remain,” Dr. Zerhouni said. “NIH is now drawing all fields of science together in a concerted effort to meet these challenges head-on.”
Developed with input from more than 300 nationally recognized leaders in academia, industry, government and the public, the NIH Roadmap provides a framework of the strategic investments that NIH needs to make to optimize its entire research portfolio. The NIH Roadmap builds on the tremendous progress in medical research achieved, in part, through the recent doubling of the NIH budget. In setting forth an ambitious vision for a more efficient and productive system of medical research, the NIH Roadmap focuses on the most compelling opportunities in three main areas: new pathways to discovery, research teams of the future and re-engineering the clinical research enterprise.
To be part of the NIH Roadmap, scientific initiatives had to be deemed of high potential impact, had to enhance the disease and mission-specific activities of all of NIH’s 27 institutes and centers, and had to respond to the needs and concerns of the public. NIH will begin to implement all of the initiatives in fiscal year 2004. Some initiatives that build upon existing research efforts are expected to achieve their goals rapidly, while other newer or more complex endeavors are expected to take several years to come to fruition.
“Through these new initiatives, we hope to remove some of the biggest roadblocks that are keeping research findings from reaching the public as swiftly as possible,” Dr. Zerhouni added. “These efforts cover a broad spectrum of points between the lab and the clinic — from basic biological research, such as determining protein structure, to the front lines of clinical research, such as improving the training of the physicians and nurses who run clinical trials.”
After an intense process of discussion and scientific review, the directors of NIH’s 27 institutes and centers approved an NIH Roadmap strategy that features 28 initiatives to be carried out by nine implementation groups arranged under three main themes.
New Pathways to Discovery
With this theme, New Pathways to Discovery, the NIH Roadmap addresses the need to understand complex biological systems. Future progress in medicine will require quantitative knowledge about the many interconnected networks of molecules that comprise cells and tissues, along with improved insights into how these networks are regulated and interact with each other. Researchers predict that more precise knowledge of the combination of molecular events that lead to health or disease will help to revolutionize the practice of medicine in the 21st century.
New Pathways to Discovery also sets out to build a better “toolbox” for today’s biomedical researchers. To fully capitalize on the recent sequencing of the human genome and many new discoveries in molecular and cell biology, the research community needs wide access to technologies, databases and other scientific resources that are more sensitive, more robust and more easily adaptable to researchers’ individual needs. Among the resources to be produced are libraries of chemical molecules that can provide probes of biological networks, innovative tools for capturing real-time images of molecular and cellular events, improved computational infrastructure for biomedical research and tiny, nanotechnology devices capable of viewing and interacting with basic life processes.
These initiatives will provide a solid scientific foundation for new strategies for diagnosing, treating and preventing disease. Implementation groups in this area are:
Molecular Libraries and Molecular Imaging
Bioinformatics and Computational Biology
Nanomedicine
Structural Biology
Building Blocks and Pathways
“There is no doubt that after the successful completion of the Human Genome Project, our next frontier is to understand all of the myriad elements of cells and organs that are encoded by DNA. Even more importantly, we need to determine how this enormously complex machinery functions in health and disease. The NIH Roadmap process has really helped all of us zero in on key initiatives that will empower biomedical researchers to understand and treat disease,” said National Human Genome Research Institute Director Francis S. Collins, M.D., Ph.D., who co-led two of the working groups that developed initiatives in this area.
Research Teams of the Future
The scale and complexity of today’s biomedical research problems increasingly demand that scientists move beyond the confines of their own discipline and explore new organizational models for team science. For example, imaging research often requires radiologists, physicists, cell biologists and computer programmers to work together on integrated teams. Many scientists will still continue to pursue individual research projects, but they too will be encouraged to make changes in the way they approach the scientific enterprise.
NIH wants to stimulate new ways of combining skills and disciplines in both the physical and biological sciences. A new funding mechanism, the NIH Director’s Innovator Award, will encourage investigators to take on creative, unexplored avenues of research that carry a relatively high potential for failure, but also possess a greater chance for truly groundbreaking discoveries. In addition, novel partnerships, such as those between the public and private sectors, will be encouraged to accelerate the movement of scientific discoveries from the bench to the bedside.
As part of its theme, Research Teams of the Future, the NIH Roadmap seeks to encourage scientists and scientific institutions to test alternative models for conducting research. Implementation groups in this area are:
High-Risk Research-NIH Director’s Innovator Award
Interdisciplinary Research
Public-Private Partnerships
“Biological, physical and information sciences have converged at an incredible pace. This demands that we break down barriers among disciplines, as well as among our own institutes and centers. We need to challenge ourselves to find even more innovative and effective ways of doing biomedical research and converting that into cures,” said National Institute of Dental and Craniofacial Research Director Lawrence A. Tabak, D.D.S., Ph.D., who co-led one of the NIH Roadmap working groups that developed initiatives in this area.
Re-engineering Clinical Research
Ideally, basic research discoveries are quickly transformed into diagnostics, drugs, treatments or methods for prevention. Such translation lies at the very heart of the NIH’s mission. Although biomedical research has succeeded in curing many diseases, and converting many others once considered uniformly lethal into more chronic, treatable conditions, it has become clear to the scientific community that the United States must recast its entire system of clinical research if such efforts are to remain as successful as they have been in the past. Over the years, clinical research has become more difficult to conduct. However, the exciting basic science discoveries currently being made demand that clinical research continue and even expand, while at the same time striving to improve efficiency and better inform basic science efforts. This is undoubtedly the most difficult but most important challenge identified by the NIH Roadmap process.
At the core of this vision is the concept that clinical research needs to develop new partnerships among organized patient communities, community-based physicians and academic researchers. In the past, all research for a clinical trial could be conducted in one academic center; that is unlikely to be true in the future. In these initiatives, NIH will promote the creation of better integrated networks of academic centers that work jointly on clinical trials and that include community-based physicians who care for sufficiently large groups of well-characterized patients. Implementing this vision will require new ways to organize the way clinical research information is recorded, new standards for clinical research protocols, modern information technology, new models of cooperation between NIH and patient advocacy alliances, and new strategies to re-energize the clinical research workforce.
“I am excited by the prospect of NIH exploring ways to truly reshape the national vision for clinical research. The era of a single-purpose isolated clinical trial with no standardization across trials is coming to a close. The development of a common infrastructure for clinical research must be explored aggressively as a way of expanding our knowledge of disease mechanisms and accelerating the therapies of the future,” said National Institute of Arthritis and Musculoskeletal and Skin Diseases Director Stephen I. Katz, M.D., Ph.D., who co-led one of the working groups that developed initiatives in this area.
The NIH Roadmap’s theme of Re-engineering the Clinical Research Enterprise is intended to address this crucial area by promoting better integration of existing clinical research networks, encouraging the development of technologies to improve the assessment of clinical outcomes, harmonizing regulatory processes and enhancing training for clinical researchers. Another major goal of this initiative is to more fully involve and empower the public in the research process. Implementation groups in this area are:
Harmonization of Clinical Research Regulatory Requirements
Integration of Clinical Research Networks
Enhance Clinical Research Workforce Training
Clinical Research Informatics: National Electronic Clinical Trials and Research Network (NECTAR)
Translational Research Core Services
Regional Translational Research Centers
Enabling Technologies for Improved Assessment of Clinical Outcomes
Taken together, the components of the NIH Roadmap initiatives are an integral part of a well-thought out national portfolio of research to meet the health demands of the 21st century.
The NIH, which is comprised of 27 institutes and centers, is an agency of the Department of Health and Human Services. The Web site for the NIH Roadmap is located at: http://nihroadmap.nih.gov. More information about NIH can be found at its Web site: www.nih.gov.
Posted by Dave at 04:58 PM | Comments (0) | TrackBack
September 29, 2003
Huntingtin Protein
Huntington's Disease is caused by unusually long string of CAG repeats in the DNA coding of the huntingtin protein. Until now researchers have not paid attention to the normal huntington in those with HD, they've just studied the mutated huntington protein.
Now researchers have taken a look at the unaffected huntingtin protein and they've found it is being depleted. This is most likely due to some action caused by the mutated version of the huntingtin protein. This is an important finding as huntingtin protein plays an important role in keeping neural cells alive.
Here's the study abstract:
J Neurochem. 2003 Oct;87(1):101-106.
Depletion of wild-type huntingtin in mouse models of neurologic diseases.
Zhang Y, Li M, Drozda M, Chen M, Ren S, Mejia Sanchez RO, Leavitt BR, Cattaneo E, Ferrante RJ, Hayden MR, Friedlander RM.
Neuroapoptosis Laboratory, Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA Center For Molecular Medicine and Therapeutics and Departments of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada Department of Pharmacological Sciences, University of Milano, Milano, Italy Geriatric Research Education and Clinical Center, Bedford VA Medical Center, Bedford, Massachusetts and Boston University School of Medicine, Bedford, Massachusetts, USA Neurology, Pathology and Psychiatry Department, Boston University School of Medicine, Boston, Massachusetts, USA.
Huntington's disease (HD) is caused by a mutation in the gene encoding for huntingtin resulting in selective neuronal degeneration. Because HD is an autosomal dominant disorder, affected individuals have one copy of the mutant and one copy of the wild-type allele. Huntingtin has antiapoptotic properties and is critical for cell survival. However, the important role of wild-type huntingtin in both HD and other neurological diseases has not been fully recognized. We demonstrate disease-associated decreased levels of full-length huntingtin in brains of transgenic mouse models of HD, ischemia, trauma, and in spinal cord after injury. In addition, overexpression of wild-type huntingtin confers in vivo protection of neurodegeneration after ischemia. We propose that in HD, in addition to a toxic gain-of-function of mutant huntingtin, a parallel depletion of wild-type huntingtin results in a detrimental loss-of-function, playing an important role in disease progression.
PMID: 12969257
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September 28, 2003
HD Quilt - Phase II
This is from Marie Nemec:
I have located two sisters here in Colorado, Daleen and Ellen, who own a quilt shop in Rangely, CO in NE Colorado, who are willing to help put another quilt together!
All the information on how to submit a square, what is needed, etc. is on this website: http://huntingtondisease.tripod.com/hdmemorialquilt/
If you have any questions, feel free to contact me (Marie Nemec) at "rmnemec (at) JUNO (dot) COM".
Please consider making a square for someone you love who is affected in some way by HD. There are some experienced quilters, including myself, who have been known to make a square for someone who is sewing challenged. If you need help, let me know, and I will either make a square for you, or find someone who will.
There are still some squares left over which weren't sewn into the Phase I quilts. Debbie Hart will be sending them to me once they're in order, with the accompanying biographies. So ... it's official now. Phase II has been formally announced, and we look forward to lots of participation. It takes about +/- 100 squares to make a large quilt.
Deadline will be February 14, 2004 to allow enough time for the gals at Crafty Quilters and me to piece together the squares, for them to Machine Quilt the quilt, and then for me to bind it. The quilt will have to be completed by the time that Charlotte and I start the Bike For The Cure ride for 2004.
Please make sure that no buttons or decorative items are sewn to your square. They would have to be removed for the machine quilting process.
I will give a free "Trek Across Texas" T-shirt and two scrunchies to the person who submits the first quilt square to me! Hopefully that is an incentive!
With love and excitement for the start of Phase II,
Marie Nemec
Posted by Dave at 07:56 PM | Comments (0) | TrackBack
September 27, 2003
HD & The Brain
Most people really don't have a clear understanding of how Huntington's Disease affects the brain. This isn't too surprising considering researchers themselves are still in the process of rapidly uncovering the mysteries of this disease.
The "Your Genes, Your Health" website has a great animated tutorial on their website that's worth a visit. You can visit the tutorial here.
Posted by Dave at 12:07 AM | Comments (0) | TrackBack
September 26, 2003
Jacobson's Cause
The Merrimack River Current has two articles on Lisa Manley and the charity she started called "Jacobson's Cause". Lisa owns a medical recruiter business and she used those skills to start her charity which tries to find jobs for those in difficult situations.
What makes this related to Huntington's Disease is the name of the organization, it was named after a family that has been hit with Huntington's Disease. Lisa is hoping that the name will help raise awareness for HD.
These are two interesting articles. This one is about the "Jacobson's Cause" and this one is about how the name came to be. Good reading.
Posted by Dave at 04:50 PM | Comments (1) | TrackBack
September 25, 2003
Every Day We Learn More
Found today on the Better Humans website:
"Now researchers from University of California San Diego have for the first time shown that a defective huntingtin protein causes neuron damage by gumming up and blocking traffic along axons."
"Then they looked at the defective version of the huntingtin gene as well as other genes related to Huntington-like disorders.
They found that the disease-causing versions of all of these genes inhibit the transportation machinery while non-disease versions don't."
This is an important finding that goes a long way in explaining the symptoms of Huntington's Disease.
You can get the full article here.
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September 24, 2003
HD & Your Eyes
This study from Indiana University partially explains the decline in driving skills of those with Huntington's Disease. The researchers found that those in the early stages of HD have an impaired ability to perceive motion. This helps explain why HD drivers who are capable of driving within the lines and stopping at stop signs will make dangerous turns in front of oncoming traffic.
The study also makes clear the decreased ability to control the muscles in the eye (as with other muscles).
Here's the study abstract:
Mov Disord. 2003 Sep;18(9):1027-34.
Visual function in Huntington's disease patients and presymptomatic gene carriers.
O'Donnell BF, Wilt MA, Hake AM, Stout JC, Kirkwood SC, Foroud T.
Department of Psychology, Indiana University, Bloomington, Indiana, USA.
Disturbances of visual cognition, visuomotor performance, and visual memory have been described frequently in Huntington's disease (HD). Early stage visual abnormalities could contribute to these deficits. We evaluated visual processing in 20 control subjects who were non-gene carriers at risk for HD, nine presymptomatic gene-positive subjects, and eight subjects with a recent diagnosis of Huntington's disease. Visual perceptual tests of contrast sensitivity and motion discrimination were used to probe early stage visual processing. Extraocular movements were evaluated in a neurologic examination, and the Digit Symbol test was used to test visual motor performance. Contrast sensitivity did not differ among the three groups. Motion discrimination was impaired in HD subjects but not in the presymptomatic gene carriers when compared to gene noncarriers. Among gene carriers, impaired motion discrimination performance was associated with poorer Digit Symbol performance and extraocular abnormalities. These findings suggest that the early stages of HD are associated with disturbances of motion perception as well as disruptions of visual motor and ocular motor performance. Copyright 2003 Movement Disorder Society
PMID: 14502670
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September 23, 2003
Sandia & UNM Team On Research
At times I'm amazed at the acceleration of research into Huntington's Disease and neural cells. Sandia National Labratories, the University of New Mexico, and Maas BiolAB have teamed up on research to identify ways to protect the mitochondria (within the neurals cells) of people with diseases such as Huntington's.
Up till now, scientists have been unable to study the mitochondria in vitro with any high degree of accuracy. Now, with this nanolaser it is possible. With the ability to test hundreds of chemicals a day, this process has the potential to speed up the development of drugs that prolong the lives of those with Huntington's disease.
Here's the Press Release...very interesting reading:
ALBUQUERQUE, N.M. — Anyone visiting a nursing home has seen the horror of humans surviving beyond their brains’ ability to make sense of their surroundings.
That loss of discrimination is caused by neurons killed by malfunctions in mitochondria — the submicron-sized power packs found in every animal cell.
These malfunctions are the most immediate cause of afflictions like Parkinson’s, Huntington’s, and Alzheimer’s diseases.
Malfunctioning mitochondria have also been linked to battlefield aftereffects caused by radiation or by nerve agents like sarin.
But because mitochondria are so small, averaging a few hundred nanometers, scientists have been unable to study them in vitro with the necessary precision to determine the best possible neuroprotectants.
Now basic research at the Department of Energy’s Sandia National Laboratories and the University of New Mexico School of Medicine, using a unique biolaser operating in the nanometer range, has demonstrated the first-ever technique for studying the reactions of such ultrasmall biological organelles in their functioning state. The laser has already shown it can obtain clear signals from individual mitochondria in vitro. In late September and October, laboratory mitochondria will be rapidly coated by neuroprotectant drugs and then subjected to hostile circumstances.
Waterproofing mitochondria
“‘Waterproofing’ the mitochondria with specific protectant drugs would increase the survival chances of the brain,” says Marcus Keep, a neurosurgeon professor at the University of New Mexico School of Medicine.
“Our goal is make the brain less susceptible to diseases like Lou Gehrig’s,” says Sandia researcher Paul Gourley, a physicist who grew up in a family of doctors.
Preliminary work thus far has shown the biolaser (which recently won first place in the DOE’s annual Basic Energy Sciences’ competition for using light to quantify characteristics of anthrax spores) is able to measure mitochondrial size through unexpected bursts of light given up by each mitochondrion. The laser, using the same means, can also measure the swelling effect caused by the addition of calcium ions — the reaction thought to be the agent of death for both mitochondria and their host cells. The researchers expect to introduce neuroprotectant drugs into experiments this month, and be able to test hundreds of possible protective substances daily instead of two or three formerly possible.
“If we can use this light probe to understand how mitochondria in nerve cells respond to various stimuli, we may be able to understand how all cells make life or death decisions — a step on the road, perhaps, to longer lives,” says Gourley.
To do that, he says, scientists must understand how a cell self-destructs, which means understanding how mitochondria send out signals that kill cells as well as energize them.
The universal energy provider
Mitochondria have long been known as the mechanism that produces ATP, the universal energy driver for animal life. ATP powers each cell similarly to the way that gas powers each automobile. But scientists have found that the tiny power plants have another function. When cells are signaled to die — acceptably, as when biomaterial is shed from a uterus during its periodic menstrual cycle, or unacceptably, as the result of certain neurological diseases — an excess of calcium ions and free radicals that result from certain chemical reactions in the body open a large pore in the inner membrane in that cell’s mitochondria. The pore enables release of a protein called cytochrome C that kills the cell. Meanwhile, the mitochondrion itself swells and explodes. One way to stop this suicidal process would be to find a chemical that would shield the mitochondria from these intruders.
Unexpected bursts of light
The observation technique developed at Sandia to test for such effects came about almost by accident. In the innovative lab arrangement already developed by Gourley’s group, a micropump sends fluids containing suspect material through a submicron-sized lasing cavity. The cavity is formed between a light-emitting semiconductor and a reflective mirror.
The group expected to push fluid containing mitochondria through the device and to see very weak signals emanating from the tiny organelles. Had this been true, signal-averaging techniques would have been necessary to generate a generalized, necessarily less crisp estimate of responses.
“We were pleasantly surprised but puzzled to see very large signals from each mitochondrion,” Gourley said. “A statistical average was unnecessary.”
The researchers realized that each mitochondrion acted as a lens for light passing through it because the organelle had a higher index of refraction (1.42) than water (1.33). Light refracted into the mitochondria in effect emerged amplified. It was exactly analogous to a lens concentrating light passing through it.
“When a critical concentration of emitted photons is reached,” says Gourley, “stimulated emission of additional photons occurs in the semiconductor.”
These photons, as well as those reflected from the mirror, retrace their paths back through the mitochondria. “Wildly wayward photons are lost,” Gourley says. “Only the photons that pass back through the tiny mitochondrion will arrive back at the semiconductor with the proper phase and location where the photon amplification (gain) can recur.”
This discovery suggested the laser cavity be set up sensitively — like a gun on a hair-trigger — by carefully setting the power of an external pump laser that beams energy into the cavity. When a mitochondria cell is present, the light in the cavity reaches critical concentration to trigger the avalanche of photons necessary for laser action.
Thus the tiny organelle becomes the center of a lasing process that yields light signals as bright as that emitted by an entire cell several orders of magnitude larger, offering possibilities for analysis that light scattering — the current method of choice for rapid mitochondrial analysis — lacks.
Because the light has to squeeze through such a tiny object, a process Gourley calls “nano-squeezing,” the lasing spectra are dramatically altered, which makes cell identification and detection easier.
UNM’s Keep, who is also chief executive officer of the Albuquerque-based Swedish-American company Maas BiolAB, has contributed the neuroprotective agent Cyclosporin A, for which his company holds a patent. According to Keep, Cyclosporin A does “waterproof” the mitochondria, but not well enough. The idea here is to use the Sandia biolaser to establish a benchmark for performance against which to measure other, potentially even more effective drugs.
“Cyclosporin protects mitochondria better than anything else known, but it is not a perfect drug,” says Keep. “It has side effects, like immunosuppression. Unrelated drugs may have a similar protective effect on mitochondria. Gourley’s device will lead to a rapid screening device for hundreds of cyclosporin derivatives or even of chemical compounds never tested before.”
While testing with conventional methods would take many people and many batches of mitochondria, says Keep, the nanolaser requires only tiny amounts of mitochondria and drug to test.
“With one tube on the left flowing in a number of mitochondria per second, and microliters of different drugs in different packets flowing in to join them on the right, we could rapidly run through hundreds of different compounds. Each mitochondrion scanned through the analyzer would show if there were a change in its lasing characteristics. That would determine the effectiveness of chemical compounds and identify new and even better neuroprotectants.”
Currently, he says, only a few materials can be tested each day.
Mitochondria with and without neuroprotectant would have calcium ions added to the mix to see the effect of each potential drug.
The work is funded by DOE’s Basic Energy Sciences program, DOE’s Office of Biological and Environmental Research and Sandia’s Laboratory Directed Research and Development funds.
In addition, Keep has applied for a grant from the US Congress to develop treatments based on Cyclosporin A to help Gulf War victims who develop the neuron disease amyotrophic lateral sclerosis (ALS). ALS or Lou Gehrig’s disease is a neurodegenerative disorder affecting both Gulf War veterans and civilians that kills motor neurons causing paralysis and death in three years.
--------------------------------------------------------------------------------
Sandia is a multiprogram laboratory operated by Sandia Corporation, a Lockheed Martin Company, for the United States Department of Energy’s National Nuclear Security Administration under contract DE-AC04-94AL85000. With main facilities in Albuquerque, N.M., and Livermore, Calif., Sandia has major research and development responsibilities in national security, energy and environmental technologies, and economic competitiveness.
Sandia media contact: Neal Singer, nsinger@sandia.gov, (505) 845-7078
Posted by Dave at 09:37 PM | Comments (0) | TrackBack
September 22, 2003
New Phase II HD Drug Trial
HD Lighthouse has the scoop on Copaxone, a Multiple Sclerosis drug that has just moved into Phase II drug trials for the treatment of HD.
If this drug works, it has the potential to slow down the progression of HD. It's already a drug that has been approved by the FDA so it has the potential of becoming an approved drug for Huntington's Disease within three years. Definitely worth keeping an eye out for this one. You can read more on HD Lighthouse's website here and here.
Posted by Dave at 11:14 PM | Comments (0) | TrackBack
September 21, 2003
Highlights From The Movement Symposium
Interesting news from the 2003 Movement Symposium in Denver, Colorado. The speaker for Huntington's Disease was Dr. Penelope Hogarth from the Oregon Health and Science University. She is currently involved in two Huntington's Disease studies.
The first one is a small study on the over-the-counter herb Kava Kava. Based on some limited studies that measured Kava Kava's effect on Parkinson's patients, Dr. Hogarth is investigating to see if it might help reduce movement (chorea) in HD patients.
The second study, and one I'm very excited to hear about, is a Phase I drug trial on a HDAC inhibitor. HDAC inhibitors are a new class of drug that affect gene transcription. A study in 2001 demonstrated that HDAC inhibitors might be a very effective treatment for Huntington's Disease. Earlier this year a study on the HDAC inhibitor SAHA was released and it also showed great promise as a treatment.
What is exciting about Dr. Hobarth's study is that it is on a HDAC inhibitor that has been previously approved by the FDA. This greatly shortens the time required to make it an approved drug for the treatment of HD. As a Phase I drug trial, they are currently determining the appropriate dosages to be used later in the Phase II and (hopefully) Phase III trials. If this drug proves to be effective against Huntington's Disease, it could be approved for HD by the FDA within three to four years (and thereby covered by insurance policies). Let's keep our finger's crossed!
Posted by Dave at 09:27 AM | Comments (0) | TrackBack
September 20, 2003
Discriminating Against HD
Only a tiny percentage of individuals who are at risk for Huntington's Disease take the test to determine if they have it. One of the reasons is the fear of discrimination, especially by insurance companies.
In England, Huntington's Disease is the only disease that life insurance companies are allowed to discriminate against and this is because of the accuracy of the HD test.
Read this article from the Observer for the rest of the story.
Posted by Dave at 07:29 PM | Comments (0) | TrackBack
September 19, 2003
Eugenics & HD
Researchers from a Switzerland university conducted a study on law and medical students to determine their views on eugenics and genetics in relation to Huntington's Disease. Interestingly, lawyers and doctors had very different views on the subject. Here's the highlights from the abstract:
73% of law students believed that HD carriers should be pressured to be tested and get sterilized; 94% of all students believed that all HD carriers and 'at risk' should be required to get prenatal testing and only 40% of law students believed that that the wishes of a person to not be tested should be entirely respected.
The researchers commented: "More education is needed to discourage eugenic pressures and discrimination of persons at risk of HD and other genetic diseases."
I whole heartly agree with that conclusion. We need to guard against the belief that those with Huntington's Disease are somehow of less value as human beings as those without the gene. Those with the gene are every bit as much human and deserving of the same respect and considerations as those born without the gene.
For those of you who are unfamiliar with the history of eugenics...here is an article on the subject from the public domain encyclopedia Wikipedia (under GNU license):
The word "eugenics" (from the Greek for "well-born") was coined by Sir Francis Galton, a cousin of Charles Darwin, to refer to the study and use of selective breeding (of animals or humans) to improve a species over generations.
Compared to today's definition, Galton made a confusion between the genetic improvement of the human races by selection of hereditary features considered to be desirable and/or elimination of the traits considered to be undesirable, and the improvement of the individuals by actions related to their living conditions.
However, the initial principle defined by Galton, was directly in connection with the teaching and work of Darwin, himself very influenced by Malthus. According to Darwin, the mechanisms of the natural selection are thwarted by human civilization. One of the objectives of civilization is somehow to help the underprivileged ones, therefore to be opposed to the natural selection responsible for extinction of the weakest. According to eugenists, the loss of effectiveness could lead to an increasing number of individuals who would have normally been eliminated through natural selection processes. Eugenists thus propose to promote actions to balance effects of natural selection mechanism loss within civilizations. This basic principle inspired numerous and very diverse philosophies, scientific or pseudo-scientific theories and social practices.
In modern usage, it more commonly refers to human selective reproduction with the intent to create children with desirable traits, especially those that best meet some ideal of racial purity, as well as elimination of individuals carrying undesirable traits.
Nazi Germany under Adolf Hitler was infamous for its eugenics program, which attempted to maintain a "pure" German race. Among other acts, the Nazis performed extensive, often cruel, experimentation on live human beings to test their genetic theories. During the 1930s and 1940s the Nazi regime sterilized tens of thousands of people who they viewed as mentally unfit. Most of these would later be killed by the Germans during the war.
The nation that had the second largest Eugenics movement was the United States. Beginning with Connecticut in 1896, many states enacted marriage laws with eugenic criteria, prohibiting anyone who was "epileptic, imbecile or feeble-minded" from marrying (see [1] (http://www.gene-watch.org/magazine/vol12/12-3mcewen_eugenics.html)). Eugenic considerations also lay behind the adoption of incest laws in much of the U.S. Some states also practiced sterilization of "imbeciles" for much of the 20th century. The US Supreme Court ruled in the 1927 Buck vs. Bell Case that the state of Virginia could sterilize those they thought unfit. Over the period when Eugenics was in place over 100,000 individuals were forcibly sterilized. Eugenics also persisted longer in the United States than in any other country with Virginia only halting sterilizations in 1979.
Almost all non-Catholic western nations adopted some Eugenics legislation, with the notable exception of Britain. Sweden forcibly sterilized women as part of a eugenics program over a forty year period (see [2] (http://news.bbc.co.uk/hi/english/health/background_briefings/international/newsid_290000/290661.stm)). Similar incidents occurred in Canada, Australia, Norway, Finland, Estonia, and Iceland for people the government declared to be mentally deficient.
Eugenics was also widely applied to immigration, in the early part of the twentieth century the United States and Canada began to receive far higher numbers of southern and eastern European immigrants. Eugenicists presented arguements that these were inferior races who would pollute the national gene pool if unrestricted. Thus both Canada and the United States passed laws creating a hierarchy of nationalities rating them from the most desirable Anglo-Saxon and Nordic peoples to the Chinese and Japanese immigrants who were almost completly banned from entering the country. These laws remained in both countries until the 1960s.
Some who disagree with the idea of eugenics in general contend that eugenics legislation still had benefits; namely, that advocates such as Margaret Sanger (founder of Planned Parenthood of America) found it a useful tool to urge the legalization of contraception.
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September 18, 2003
HDSA Celebration of Hope
Last night was the 5th Annual HDSA Celebration of Hope dinner in Denver. All of the proceeds raised are going to the HDSA Center of Excellence at the Colorado Neurological Institute (CNI). CNI, a charitable non-profit, is the largest comprehensive neurological center in the Rocky Mountain region. The HDSA Center of Excellence is headed by a woman who may very well be the best Huntington’s Disease specialist in the country – Dr. Lauren Seeberger.
This HDSA Center of Excellence is such a wonderful resource for the HD community. They take a multi-discipline approach to the treatment of HD. The team includes neurologists, psychologists, occupational therapists, physical therapists, speech therapists, a genetic counselor, and a licensed clinical social worker. They provide education and support to long-term care and assisted-living facilities, they staff an HD ‘Helpline’, provide professionals to help run two Colorado support groups, provide travel assistance to HD patients with financial difficulties and they participate in HD studies. There is now 17 HDSA Center’s of Excellence with the goal of increasing that to 25 centers within the next three years.
Having seen the results first hand, I cannot overstate how much better the quality of care and support is to HD families due to the integration of care and research. The benefits of Marjorie Guthrie’s vision (which was codified in CCHD’s charter) of education, assistance, and research are evident today in HDSA’s Center’s of Excellence.
The fundraiser last night was a huge success with a large attendance, a huge silent auction, and a very powerful presentation all designed to raise as much money as possible for the support of HD families. Dr. Seeberger’s very eloquent speech was directed to the large donors. She did such a wonderful job explaining that HD is a combination of the movement of Parkinson’s (only worse) that has afflicted celebrities such as Michael J. Fox, the fading mental capabilities of Alzheimer’s, and for some the debilitating emotional effects that are felt by those with bi-polar disease. Very well done. You could almost hear those purse strings loosening.
The program included the playing of a new PSA for HD that has been nominated for a prestigious advertising award. It was excellent! The most powerful element of the evening was readings from the HDSA Generation 2000 Journal of Hope. These pieces of HD expressions and memorials were read by a rotating group of HDSA members that included three young girls who did a marvelous job. This was followed by a live performance by the singing group ‘MULTI’ of a new original song about HD called “Tina Marie”, performed in memory of Tina Marie Nieto Herrera. During the performance a video of pHD’s at the HDSA Center of Excellence was played (this was with their permission). When the song was finished, the singers turned to face the screen and the rest of video was played in silence. I heard sniffles from throughout the room.
Wish you all could have been there, what an evening!
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September 17, 2003
Benefit For U of I HD Program
This Friday there will be a benefit for the University of Iowa's Huntington's Disease Center. This benefit concert will run from 8pm until midnight and will feature four musical acts.
The University of Iowa has one of the most important HD research programs in the country. When an effective treatment or cure for Huntington's is identified there is a very good chance will have it's roots in the U of I HD program. They were the first organization to try the highly promising RNAi therapy on HD mice. They found that RNAi could be a highly effective treatment for Huntington's Disease.
For more information you read this article from the Iowa-City Press Citizen.
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September 16, 2003
Reata Discovery
In what could turn out to be a real benefit to Huntington's Disease research, Reata Discovery, Inc. has purchased an imporant research tool from the University of Texas Southwestern. This tool, a cell-assay, is claimed to be very efficient in identifying small-molecule drugs (in other words cross the blood-brain barrier) that stop proteins from misfolding.
Huntington's Disease is caused by a genetic fault that causes the huntingtin protein to misfold. Reata plans to use this new tool to find potential treatments for Huntington's and other protein misfolding diseases.
Here's the press release:
DALLAS, Sept. 16 Reata Discovery, Inc. ("Reata") announced the completion of a series of exclusive patent licenses with The University of Texas Southwestern Medical Center at Dallas ("UT Southwestern"). Under the UT Southwestern licenses, Reata acquired commercial rights to a portfolio of promising cancer clinical candidates as well as a unique small-molecule discovery platform useful in identifying promising new treatments for cancer and neurodegenerative diseases. Reata also announced the acquisition of a series of promising anti-cancer agents developed at The University of Texas M.D. Anderson Cancer Center ("MD Anderson").
"Reata was formed to commercialize promising drug candidates developed at leading Texas research institutions," said Warren Huff, President and Chief Executive Officer of Reata. "With these technology additions, Reata has three new anti-cancer agents in active preclinical development." Reata's development strategy has been to focus only on compounds that (a) are highly specific and potent for a known target, (b) have a novel mechanism of action, and (c) address the deadliest forms of cancer, for which existing treatments are inadequate. The Reata preclinical drug candidates have demonstrated effectiveness in preclinical disease models and have promising toxicity profiles. Reata expects to advance two of its lead compounds to clinical trials during 2004.
Reata also acquired a proprietary cell-based assay system from UT Southwestern that enables the efficient discovery of small-molecule drugs that rescue disease-causing proteins from misfolding. Improper protein folding has emerged recently as a critical pathogenic mechanism for a number of intractable diseases including cancer and neurodegenerative disorders. Reata plans to use this breakthrough assay technology to identify new compounds that prevent misfolding of important regulatory proteins that are mutated in many human cancers and to discover new compounds that correct misfolding of key pathogenic proteins involved in Alzheimer's disease, Parkinson's disease, Huntington's disease, and ALS. Products discovered through the application of this technology could be capable of altering the course of disease and could have significant advantages over current symptomatic treatments.
Founding Scientists
Reata announced the addition of several inventors of the technologies licensed by it as founding scientists, including the following: Dr. Thomas Sudhof, professor of molecular genetics and director of the Center for Basic Neuroscience at UT Southwestern; Dr. Waldemar Priebe, professor of medicinal chemistry at MD Anderson; Dr. Jonathan M. Graff, associate professor in the Center for Developmental Biology and of molecular biology at UT Southwestern; Dr. Philip J. Thomas, associate professor of physiology at UT Southwestern; and Dr. Jef Karel De Brabander, assistant professor of biological chemistry at UT Southwestern. Dr. Jerry W. Shay, professor of cell biology at UT Southwestern has joined the Company's scientific advisory board.
Completion of Financing Round
Reata also announced the completion of a private financing round that brings the company's total start up financing to $5.2 million. The financing round was led by Ojai Goliad. Other investors included STARTech Early Ventures.
Posted by Dave at 10:22 AM | Comments (0) | TrackBack
September 15, 2003
Maybe Next Year
Blogs (web logs) can be based from anywhere, the HD Blog happens to be based in Colorado. One of the local papers, the Rocky Mountain News, had an excellent article today on Colorado blogs. Unfortunately, this blog wasn't mentioned (we are one of the first blogs ever to focus on a specific disease), but we'll withhold our disappointment long enough to congratulate the Colorado blogs who did get recognized:
TalkLeft.com
WalterInDenver.com
TBOTCOTW
Colorado Compound
Dave Cullen
Coyote Gulch
Dial 'M' For Maxwell
My Life Is A Mess
The Speculist
VodkaPundit
The World Wide Rant
Support the neighborhood and visit these blogs!
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September 14, 2003
HDAC Study Supports Treatment Path
One of the most promising treatments being considered for Huntington's Disease is the use of HDAC inhibitors. Two years ago, UC Irvine researchers found that HDAC inhibitors were highly effective in treating HD in fruit flies. Earlier this year in a study SAHA, a HDAC inhibitor, was shown to be beneficial in mice.
Here's the study abstract:
Now this study done by researchers in Japan shows that human's should also benefit from HDAC Inhibitors.
More animal research needs to be done and there are other HDAC inhibitors that should be tested...but we are getting closer to seeing human tests in this very promising treatment!
J Neurochem. 2003 Oct;87(1):257-267.
Histone deacetylase activity is retained in primary neurons expressing mutant huntingtin protein.
Hoshino M, Tagawa K, Okuda T, Murata M, Oyanagi K, Arai N, Mizutani T, Kanazawa I, Wanker EE, Okazawa H.
Department of Molecular Therapeutics, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan Department of Neurology, University of Tokyo, Tokyo, Japan Departments of Neuropathology and Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan Department of Pathology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan National Center for Neurology and Psychiatry, Tokyo, Japan Max-Delbruck Center for Molecular Medicine, Berlin, Germany PRESTO, Japan Science and Technology Corporation (JST), Saitama, Japan.
Perturbation of histone acetyl-transferase (HAT) activity is implicated in the pathology of polyglutamine diseases, and suppression of the counteracting histone deacetylase (HDAC) proteins has been proposed as a therapeutic candidate for these intractable disorders. Meanwhile, it is not known whether mutant polyglutamine disease protein affects the HDAC activity in declining neurons, though the answer is essential for application of anti-HDAC drugs for polyglutamine diseases. Here, we show the effect of mutant huntingtin (htt) protein on the expression and activity of HDAC proteins in rat primary cortical neurons as well as in human Huntington's disease (HD) brains. Our findings indicate that expression and activity of HDAC proteins are not repressed by mutant htt protein. Furthermore, expression of normal and mutant htt protein slightly increased HDAC activity although the effects of normal and mutant htt were not remarkably different. In human HD cerebral cortex, HDAC5 immunoreactivity was increased in the nucleus of striatal and cortical neurons, suggesting accelerated nuclear import of this class II HDAC. Meanwhile, western blot and immunohistochemical analyses showed no remarkable change in the expression of class I HDAC proteins such as HDAC1 and HDCA8. Collectively, retained activity in affected neurons supports application of anti-HDAC drugs to the therapy of HD.
PMID: 12969272
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September 13, 2003
Ebay Fundraiser for HD
If you're a fan of quilting and you would like to support HD, there is a beautiful quilt for being auctioned on Ebay. Here's the description and a picture (Link):
This beautifully crafted free-motion quilt is constructed in a Simple Hearts Design. The quilting utilizes primarily small prints accented with both solid colors and large floral prints from a Victorian palette of mauve, blue, celadon, and maize yellow. The double/queen quilt is 62IN wide by 74In long but can also be used for a twin bed. The Huntington's Disease Society of America - Wisconsin Chapter (HDSA-WI), a non-profit health organization, is offering this quilt for auction. All proceeds from the sale will go to HDSA-WI. Please see www.hdsa-wi.org for more information on HDSA-WI or Huntington's Disease. Thank you for your interest.
Hat tip to the Hunt-Dis email list on this auction.
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September 12, 2003
Movement Disorder Symposium
For those who will be around the Denver, CO area on September 20th the 10th bi-annual Movement Disorder Symposium is being held. This event includes special guests, a silent auction, lunch and break out sections - including one specifically for Huntington's Disease.
The event is being held from 8:30am - 3:30pm at the Mile Hi Church (9079 W. Alameda Ave.) in Lakewood, CO. I can highly recommend this event!
The schedule is available here and the registration form is available here. See you there!
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September 11, 2003
9/11
Michele at A Small Victory blog has created a web page containing people's memories from that day just two years ago. She's done a great job and I believe it's an appropriate way to pay tribute to the thousands who died and the millions who were affected by the event. Thank you Michele.
Back to normal programming tomorrow.
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September 10, 2003
A Small Milestone
The PubMed list of articles and studies referencing Huntington's Disease now exceeds 6000! There's now over 200 new one's since just the beginning of the year.
There is reason to hope! It's not just the quantity of research it is the quality of it. We are a far cry from just 20 years ago when researchers were often just throwing stuff into petri dishes to see what would happen. Today, the discoveries about the disease and the huntingtin protein are rapidly building toward a full understanding of the disease (and an effective treatment).
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September 09, 2003
BDNF And The Huntingtin Protein
If you've been following HD Lighthouse's website, and I'm sure you have, then you've seen repeated mentions to BDNF. BDNF, or brain-derived neurotrophic factor, is one of those very important but not fully understood elements in the brain. It appears to have a large responsibility in the creation of new neural cells. In other words, less BDNF=less brain cells.
HD Lighthouse has been advocating for years that pHD's take proactive steps to maximize BDNF in the brain. This study from researchers in Italy took a closer look at BDNF and the huntingtin protein. What they found out is that the huntingtin protein may be required for the production of BDNF in the brain. This further confirms the that the defective huntingtin protein in HD patients may be directly responsible for the lowering levels of BDNF in the brain.
One of the best ways to increase BDNF in the brain is through regular exercise. For more information visit these articles on HD Lighthouse.
Here is the study abstract:
Eur J Neurosci. 2003 Sep;18(5):1093-1102.
Co-localization of brain-derived neurotrophic factor (BDNF) and wild-type huntingtin in normal and quinolinic acid-lesioned rat brain.
Fusco FR, Zuccato C, Tartari M, Martorana A, De March Z, Giampa C, Cattaneo E, Bernardi G.
Basal Ganglia Unit, Laboratory of Experimental Neurorehabilitation, Santa Lucia Foundation I.R.C.C.S, Via Ardeatina 306, Rome 00179, Italy Department of Pharmacological Sciences and Center of Excellence on Neurodegenerative Diseases, University of Milano, Via Balzaretti 9, Milano 20133, Italy Department of Neuroscience, University of Rome Tor Vergata, Via di Tor Vergata 135, Rome 00133, Italy.
Loss of huntingtin-mediated brain-derived neurotrophic factor (BDNF) gene transcription has been described in Huntington's disease (HD) [Zuccato et al. (2001) Science, 293, 493-498]. It has been shown that BDNF is synthesized in the pyramidal layer of cerebral cortex and released in the striatum [Altar et al. (1997) Nature, 389, 856-860; Conner et al. (1997) J. Neurosci., 17, 2295-2313]. Here we show the cellular localization of BDNF in huntingtin-containing neurons in normal rat brain; our double-label immunofluorescence study shows that huntingtin and BDNF are co-contained in approximately 99% of pyramidal neurons of motor cortex. In the striatum, huntingtin is expressed in 75% of neurons containing BDNF. In normal striatum we also show that BDNF is contained in cholinergic and in NOS-containing interneurons, which are relatively resistant to HD degeneration. Furthermore, we show a reduction in huntingtin and in BDNF immunoreactivity in cortical neurons after striatal excitotoxic lesion. Our data are confirmed by an ELISA study of BDNF and by a Western blot analysis of huntingtin in cortex of quinolic acid (QUIN)-lesioned hemispheres. In the lesioned striatum we describe that the striatal subpopulation of cholinergic neurons, surviving degeneration, contain BDNF. The finding that BDNF is contained in nearly all neurons that contain huntingtin in the normal cortex, along with the reduced expression of BDNF after QUIN injection of the striatum, shows that huntingtin may be required for BDNF production in cortex.
PMID: 12956709
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September 08, 2003
Chicago Tribune Article
I found this article through a tip on the Hunt-Dis list.
The Chicago Tribune published an excellent article written by Gayle Worland on Huntington's Disease in their September 7th issue. The article entitled "Nightmare runs in the family" does an outstanding job of explaining what Huntington's Disease is and demonstrating the devastating effects of the disease on families.
One of the best articles I've seen yet and a good read for those who don't know about HD. Here's an excerpt:
"...And yet unlike Alzheimer's, multiple sclerosis or Parkinson's, all of which have become household words, HD remains a "closet" disease whose "genetic role makes for guilt and anger and often splits marriages and families apart," said Steve Clingerman, a clinical psychologist at Stroger Hospital and chairman of family services for the Huntington's Disease Society of America's Illinois chapter. Not a single drug has been approved by the FDA to treat the affliction..."
You can read the article here (registration required unfortunately).
Be sure to send a note to the editors thanking them for the article.
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September 07, 2003
HDDW Organizational Meeting
This was posted on HD Lighthouse...
The HDDW organizational meeting details:
September 20, 2003 1:00pm
Radisson Inn
1085 East El Camino Real
Sunnyvale, California
Hotel Reservation Information:
Radisson Inn
1-888-254-0637
Rooms are $69/night.
I'll be at a symposium so I won't be there, but I urge anyone who can make it to attend. You can get all the details (and sign up to volunteer) Here.
Posted by Dave at 10:16 AM | Comments (0) | TrackBack
September 06, 2003
In The Beginning...
We've come so far in such a short period of time. Thirty-six years ago folk singer Woodie Guthrie died from Huntington's Disease. At that time there was very little research being done on Huntington's Disease and very little information available to doctors. Woodie's widow, Marjorie Guthrie, decided to tackle this problem and she started the 'Committee to Combat Huntington's Disease' (CCHD).
This was their statement of purpose:
PURPOSES OF THE CCHD, INC.
The Committee's Charter contains a statement of the purposes for which the Committee was organized. Briefly, these purposes are:
Educational. To collect information about all aspects of Huntington's disease and distribute to interested individuals, "for the purpose of increasing public awareness;"
Assistance. "To assist those afflicted with Huntington's disease and their families in meeting the social, economic, and emotional problems resulting from such affliction;"
Financial. The Committee will raise funds to help support "the advancement of medical science and research, especially in the prevention, diagnosis, treatment and cure of Huntington's disease and related ailments."
Marjorie, with the help of many others started raising money and raising awareness. In 1983, shortly after Marjorie passed away, CCHD changed its name to the Huntington's Disease Foundation of America (HDFA). In 1986, HDFA and the National Huntington's Disease Association of American (NHDA) merged to form what is known today as the Huntington's Disease Association of American (HDSA).
Today, with precious little money, HDSA continues to provide the educational services, support services, and research funding that was originally envisioned by a small group of people in 1967.
If you'd like to read more about CCHD you can visit this page at CureHD.com which has several newsletters from the earliest days of the organization. It's very interesting reading!
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September 05, 2003
Repairing The Brain
It's been a slow week for HD news and I've been too busy to write new articles. Today I'm taking a friend to the doctor's office so they can participate in the PREDICT study.
Do yourself a favor and read this great article at HD Lighthouse, taken from Scientific American. In the article, Dr. Gage talks about what has been learned about repairing the brain in the last few years.
There is a lot of information here and, considering the subject matter, an pretty easy read. Check it out.
You may also want to pick up the September 2003 issue at your local newsstand. It's a "Better Brain's" issue and there are at least nine brain related articles.
Posted by Dave at 07:56 AM | Comments (0) | TrackBack
September 04, 2003
The True Meaning Of Class
From time to time this blog will go 'off topic' and link to a story on another blog.
This is one of those times. Here is a wonderful story at the 'Petrified Truth' blog taken from San Diego Union-Tribune.
Thanks to Instapundit for the pointer. You can reach the piece here.
Semper Fi
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MIDNIGHT TRAIN TO GEORGIA
This comes from Dr. LaVonne Goodman:
With some money in the bank, HUNTINGTON’S DISEASE DRUG WORKS (HDDW) is now officially ready to begin the work of the TREATMENT NOW initiative for those affected by this disease. HDDW is an official non-profit organization founded by Nathan and LaVonne Veatch Goodman. This Huntington’s organization will be the vehicle (our “Midnight Train To Georgia”) to speed the testing for individual HD patients with drugs available now. We have taken this independent path because at present our patient organizations do not have any funding mechanism for the human studies (described below) proposed by “Treatment Now”. If any of the studied agents have benefit, we have a fighting chance for bringing treatments to people affected by HD in THIS generation now.
We are thankful and have the greatest of respect and admiration for researchers who have brought the scientific and medical knowledge of Huntington’s disease to the stage that drug testing is a possibility. We also are thankful and have the greatest of respect and admiration for the Huntington’s organizations; Huntington’s Disease Society of America founded by Marjorie Guthrie, the Hereditary Disease Foundation founded by the Wexler family, and the Huntington Study Group scientists, and physicians who coordinate efforts country-wide. It is our intent that the works of HDDW augment the efforts of other HD organizations.
The HDDW Huntington’s Train will be driven by those who have the most at stake in this venture; Huntington’s families. Family zeal and passion will fuel this train. For sure, we’ll need expert directions from the best basic scientists, statisticians, medicinal chemists, drug companies we can find. To get all the way to Georgia we need to be on the right track; we need all the expert help we can get.
THE N OF 1 TRIAL DESIGN
It is well known that many individuals with Huntington’s disease, and many at risk are already taking the drugs that HDDW plans to test. This is done without the benefit of clinical guidelines for either the patient or the physician. Taking this into account, we have chosen a study design that has the goal to study the individual person’s response to drug treatment; and in so doing will also provide information for best medical decision making for the treating physician. In the scientific lingo, this is call “n of 1” design. This means that the individual response or the most effective treatment for the INDIVIDUAL person with Huntington’s disease is the answer sought.
HDDW will test ONLY already available and approved drugs that have both underlying scientific foundation for potential benefit and whose risks and toxicities have already been extensively studied. Such drugs will likely include creatine, ursodiol, cysteamine, minocycline, etc. We will administer test drugs to each participant in a sequential crossover study design. For example, participant 1 will receive drug A for 6 months (or more), then drug B for the next six months, then drug C (which might be a combination of 2 drugs) for the following 6 months and so on. This will proceed until the best drug or combination for each participant is found. Other participants would have drugs given in a different and random sequence.
Drugs that don’t benefit will be discarded, so the study can adapt to positive results. And can accommodate other drugs as they become available. These studies will likely take months to years to complete, but all participants will get the drugs that have a best chance to work.
In these n of 1studies, the individual who has had previous disease progression measurement such as that performed at Centers of Excellence, will serve as their own control. Drug benefit will be measured by their own personal yardstick. This will eliminate the complicating factors of (1) known variable disease progression rate among different individuals with HD, and (2) probable variable response to single drug among different HD individuals. Individual response to individual treatment is the primary goal.
Disease progression rate post-drug will be compared to the pre-drug rate as the best measure of individual response for each time period. Each drug tested in the individual is graded for benefit. The individual then gets the drug that works best for them.
The benefit of this study design is that study patients taken as a group would over time be receiving “best standard” care onto which other drugs can later be added. Further if there are enough numbers of patients per drug or combination of drugs, our statisticians may be able to define the best care for the population of HD patients as a whole. We will design these studies from the onset so that all of us on this train will have a seat.
Posted by Dave at 06:42 PM | Comments (2) | TrackBack
September 03, 2003
HD Studies Seeking Participants
The Huntington Study Group is looking for participants for two clinical trials. One is an open-label study to measure the safety and tolerability of coQ10 and the other is a double-blind study to measure to test the use of tetrabenazine to limit chorea in Huntington's Disease patients.
Visit here to find more details.
Posted by Dave at 12:00 PM | Comments (0) | TrackBack
September 02, 2003
Defending HDSA
From time to time I see or hear negative comments about HDSA. While no organization is perfect, I believe that in some instances HDSA gets a bad rap.
Some points before I continue...
a) The needs of the HD community are far greater than the services that are being provided. More needs to be done.
b) I do donate money and time to HDSA-related activities, otherwise I have no affiliation. If I think they're wasting my money I'll be the first to say so.
c) Reasonable people with different viewpoints can come to equally reasonable different opinions.
d) HDSA is not perfect. As an organization made up of imperfect humans, they too will make mistakes.
Now on with the show...
It does not follow that because much more needs to be done in the HD community that shortage of services is the fault of HDSA. It is easy to overlook just how little money HDSA has to work with each year. They are limited by the amount of money they have (just like the rest of us). So the question should be asked is..."How well do they use the money they have?"
1) "They spend too much on fancy printing." I've heard this complaint more than once and I'm afraid this one falls under the category of 'necessary evil'. In some cases a certain weight paper or type of stock is required for durability or to prevent problems such as 'ink bleed through'.
In the case of "The Marker" and other fundraising related materials it's a necessary evil. You'll notice the same type of printing is done for other charities also. This choice isn't due to extravagance, it's do to the realities of raising money for non-profits. The appearance of these materials has a huge effect on donations. When charities go 'cheap' on fundraising materials they lose a lot more in donations than what they save on printing. Sad but true.
2) "They've run out stock on..., it should be managed better." It can be due to a screw up as staffing turnover is often high in non-profits. However, this is a common issue in many organizations, especially those on tight budgets. Those who have regularly purchased printing probably know why. One of the biggest expenses is the 'setup' costs of printing. The printer's costs of creating the printing plates and setting up the press must be covered even for small runs. A larger print run allows an organization to save money by spreading out this cost. So orders are placed when stocks run low and sometimes they run out before the new stuff is back from the printers. You can't always time these perfectly. I know, I've tried.
3) "They spend too much on office staff (overhead)." They are one of the most efficient charities when it comes to using the amount that is spent for their given purpose. They are the only charity of its type to get the a+ rating from the American Institute of Philanthropy (AIP). You can read more on this here: http://www.huntingtons.info/MT/archives/000030.html.
4) "They should spend more on supporting families/research!" (See 'a' above) HDSA's records show that they don't hoard money. They spend the money as it comes in. They already spend a very low amount of money on overhead so the only other place they can 'get' money is to take it from funds being spent on research and use it on support programs or vice-versa.
For some this is a 'religious' argument where they feel HDSA should spend ALL available funds on either research or support, not both. I'll disappoint both extremes by saying that money needs to be spent on both. While some would say that HDSA shouldn't spend any money on research, I would respond by saying that it would be foolish not to. The money spent on research will save many times that amount in support costs later. HDSA spends far less than what many people think on research. Currently they are funding only 10 small and carefully selected studies a year.
For those who say that all the money should be spent on research...As much as we need to find effective treatments for HD, HDSA is providing an important and necessary role in support of HD families that is not being filled by the government or other organization. Their periodicals such as the Physician's Guide have been an invaluable resource. For many the support meetings have been life saving.
IF YOU WANT MORE MONEY SPENT ON...
...support Services, there are a number of things you can do.
1) Donate to/fundraise for the local HDSA group, instead of the national group. All this will go to support, not research.
2) Support other organizations that focus on care such as Generations of Hope.
3) Donate your time to support others.
4) Lobby your elected officials and let them know about the needs of our community. The government spends 100's of times more than all the HD groups combined on supporting HD families.
...research.
1) Donate to research organizations such as Hereditary Disease Foundation and the Huntington's Disease Drug Works.
2) Lobby your elected officials (see above).
I do believe we need to be cautious and careful in our criticism of support organizations. If our focus becomes unbalanced and we spend too much on what we don't like without acknowledging the good it can lead to lower donations...which ultimately means less help for those who need it.
A final thought for perspective...One company (Citgo) gave more money to the Muscular Dystrophy Telethon last weekend than HDSA had to spend for all of last year. The fire fighters donation last weekend equals the amount of money HDSA had to spend for the last three years combined.
Posted by Dave at 06:07 PM | Comments (0) | TrackBack
September 01, 2003
The Dark Side of PETA
To most people the group PETA (People for the Ethical Treatment of Animals) seems harmless enough. After all, who could be against treating animals ethically? Besides, any group that relies on pictures of nude celebrities and nude demonstrators can’t be that dangerous, right? If PETA were to have their way, Huntington’s Disease research would be set back decades.
In fact, PETA calls HDSA (Huntington’s Disease Society of America) a “Cruel Charity” and asks that people not give them money. Think about that for a moment…PETA is trying to prevent people from donating money to the most prominent voice we have in the HD community. HDSA is a small charity, less than half the size of PETA, that is trying to stop the deaths of thousands of people with Huntington’s Disease and provide support to families dealing with this horrible disease. PETA doesn’t want HDSA to have any money.
What does PETA have against Huntington’s Disease research? Because Huntington’s Disease research requires animal testing and PETA is against all animal testing. Their website falsely states: “Such experiments have no practical benefit to anyone.” They quote a single doctor who says: “…meaningful scientific conclusions cannot be drawn about one species by studying another…”
The doctor they quote saying this isn’t some objective researcher, he’s a vegetarian doctor who writes diet books and is the president of the innocent-sounding “Physicians Committee for Responsible Medicine” (PCRM). According to ConsumerFreedom.com, the doctor has been involved in activist activities with a man who is a member of the violent animal-rights terrorist group “SHAC” and was once the spokesman for another animal-rights terrorist group “Animal Liberation Front” (ALF). The PCRM is an anti-meat, anti-animal research, and against the use of animals in training doctors. PETA has funneled over $400,000 to the PCRM and according to ActivistCash.com they share offices and staff.
The American Medical Association (AMA) says this about the PCRM: “…finds the recommendations of PCRM irresponsible and potentially dangerous to the health and welfare of Americans" and that the AMA "continues to marvel at how effectively a fringe organization of questionable repute continues to hoodwink the media with a series of questionable research that fails to enhance public health."
PETA Supports Terrorism
This is from information collected by the pro-restaurant group, “Center for Consumer Freedom” (I have not verified all the information in this piece):
People for the Ethical Treatment of Animals provides aid and comfort for the Earth Liberation Front (ELF) and the Animal Liberation Front (ALF). The two groups are responsible for more than 600 crimes since 1996, causing (by a very conservative FBI estimate) more than $43 million in damage. ALF’s “press office” brags that in 2002, the two groups committed “100 illegal direct actions” -- like blowing up SUVs, destroying the brakes on seafood delivery trucks, and planting firebombs in restaurants.
The FBI calls ALF and ELF the nation’s “most serious domestic terrorism threat.” Bruce Friedrich, PETA’s “vegan campaign director” and third-in-command, didn’t seem to care when he addressed the Animal Rights 2001 convention in Virginia, telling a crowd of over 1,000 activists that “blowing stuff up and smashing windows” is “a great way to bring about animal liberation.”
“It would be great,” he added, “if all the fast-food outlets, slaughterhouses, these laboratories and the banks who fund them exploded tomorrow.”
PETA’s connections to ALF and ELF are indisputable. “We did it, we did it. We gave $1,500 to the ELF for a specific program,” PETA’s Lisa Lange admitted on the Fox News Channel. PETA has offered no fewer than eight different explanations of what the “specific program” was, but law enforcement leaders have noted that since the Earth Liberation Front is a criminal enterprise, it has absolutely no legal “programs” of any kind.
PETA also has given $2,000 to David Wilson, then a national ALF “spokesperson.” The group paid $27,000 for the legal defense of Roger Troen, who was arrested for taking part in an October 1986 burglary and arson at the University of Oregon. It gave $7,500 to Fran Stephanie Trutt, who tried to murder the president of a medical laboratory. It gave $5,000 to Josh Harper, who attacked Native Americans on a whale hunt by throwing smoke bombs, shooting flares, and spraying their faces with chemical fire extinguishers. All of these monies were paid out of tax-exempt funds, the same pot of money constantly enlarged by donations from an unsuspecting general public.
Most ominously, PETA president Ingrid Newkirk was involved in the multi-million-dollar arson at Michigan State University that resulted in a 57-month prison term for Animal Liberation Front bomber Rodney Coronado. At Coronado’s sentencing hearing, U.S. Attorney Michael Dettmer said that PETA’s Ingrid Newkirk arranged ahead of time to have Coronado send her a pair of FedEx packages from Michigan -- one on the day before he burned the lab down, and the other shortly afterward.
The first FedEx, according to the Sentencing Memorandum, was delivered to a woman named Maria Blanton, “a longtime PETA member who had agreed to accept the first Federal Express package from Coronado after being asked to do so by Ingrid Newkirk.” The FBI intercepted the second package, which had been sent to the same address. It contained documents that Coronado stole before lighting his firebombs, as well as “a videotape of the perpetrator of the MSU crime, disguised in a ski mask.” Since Coronado was convicted of the arson, we now know that he himself was that masked man. “Significantly,” wrote U.S. Attorney Dettmer, “Newkirk had arranged to have the package[s] delivered to her days before the MSU arson occurred.” (emphasis in the original)
A search warrant executed at Blanton’s home turned up evidence that PETA’s other co-founder, Alex Pacheco, had also been planning burglaries and break-ins along with Rodney Coronado. The feds seized “surveillanc