Recently, the Smith Family Fund has donated $250,000 for clinical and basic science, and it is being spent in this program.
The Chapter Research Alliance has raised $240,000 to help fund these programs. The chapters include:
Greater Los Angeles
Upstate New York
Southern Florida ($60,500)
Delaware Valley ($75,000)
He said there is no gene like the HD gene. The number of CAG repeats do correlate somewhat with age of onset. Researchers are currently looking at mice, worms, and flys which have been genetically engineered to have the HD gene. They have found that cell death starts in a part of the brain called the caudate nucleus. How the cells die is not certain yet. The HD gene causes a protein, huntingtin, to be produced. This protein is essential to life, at least in mammals--mice genetically engineered to lack the HD gene die while still in the womb. Huntingtin gets smaller as cells age. It gets cut up in a process called "cleavage". The cleaving is done in two different parts of the protein by members of the caspace chemical family.
As huntingtin gets smaller, the pieces become more toxic, and the smaller fragments tend to migrate into the cell's nucleus. Preventing cleavage prevents toxicity. Some of the fragments coallesce into clumps called "aggregates". At first, the aggregates were thought to play a role in cell death, but subsequent research has cast doubt on that model. Brains of HD mice show evidence of cleavage and resultant neuronal degeneration. The aggregates are not there in the earlier stages, but there is still massive neuronal loss. The more popular current model is that the protein is cleaved producing aggregates and cell death; the aggregates may or may not contribute to cell death; cell death causes the symptoms we call HD.
In the animal model, HD is caused by mutations similar to those in humans. A corrective gene can be made a part of the animal's genome. This protective gene causes some of the caspaces to be inhibited. When this happens, the cells don't die as fast.
Dr. Hayden then went on to talk about therapies. He said the big drug companies are now interested in HD. There is now significant hope. Several drugs with great promise should be ready for testing within the next 10 years.
Why is the project relevant to HD if the gene has already been found? Dr. Collins gave four reasons: 1) To try to understand the differences in onset of the disease; 2) For the comparison of genomics between humans and animals (important for testing of new drugs); 3) We need to understand the function of the protein produced by the HD gene; and 4) Understanding the social and ethical problems associated by the discovery of not only the HD gene but all genes.
Dr. Collins took us through the process of project in general by introducing the human DNA sequence and how they are deducing the text of the book of life. Currently, they have finished 18% of the genes and hope to be done by the year 2002. In addition, they are attempting to catalog the human sequence variation, which is a new goal for the human genome project. This project will make it easier to understand why some genes vary from what they're supposed to do. Additionally, it will provide a resource for physicians, who, for the most part, are not too knowledgeable or haven't been too deeply introduced to the area of genetics.
Dr. Collins stressed the importance of assuring that our genetic information cannot be used against us by an insurance company. He mentioned his two pillars of belief: fair use of information with no discrimination and restriction of genetic information to only those who need it for health reasons. He is calling for broad support for laws banning genetic discrimination and stressed the importance of supporting the "Patient's Bill of Rights" in the Senate and strongly encouraged our support. Also, he stressed the need for parity of physical as well as mental benefits, commenting that HD is a brain injury and NOT a mental disease. As an aside, THIS comment received a standing ovation. Dr. Collins entertained a few questions including one in which he was asked if he supported stem cell research, banned for some time by the Federal Government. He could not officially comment on the question, but, off the record, he supports ANY research that will find a treatment or cure for HD.
The second session was the board meeting. From it I learned that we now have net assets of $1.3 million, enough to keep the Society afloat for seven months, even if donations absolutely dried up. This is the best situation I've seen the Society in for 22 years.
On the research front, the Huntington Study Group is going ahead with PHARO, a project studying age of onset. As some of you know, a major HDSA effort is to establish "Centers of Excellence"--major HDSA treatment centers--around the country. To date, 18 letters of intent have been received from prospective Centers. We won't be able to fund them all, but 15 have been asked to submit formal proposals.
A chapter in North Carolina has been given a provisional charter, meaning they will be able to function as a chapter but will be on probation for a couple of years until they demonstrate their ability to meet our requirements on a continuing basis. This fills an important geographical gap; until now, there have been no chapters between Washington, DC, and Georgia.
For some reason, perhaps the exciting research news and/or our financial success, people who haven't donated in 3 or 4 years and donating again, some at the $1000 level. Perhaps success breeds success.
A series of full-page HD ads should start appearing in July in several well-known national magazines.
Several meeting locations were announced: The 2000 leadership conference will be in San Diego, the one in 2001 in Phoenix. The 2000 convention will be in Orlando, FL and 2001 in either Dallas, San Diego, or Phoenix.
Current or planned clinical trials and related research were described:
Dr. Nancy Wexler closed by saying that the research is very promising. Frielander's study with caspace one inhibited mice is very exciting because it shows that something can be done
Created and maintained by Renette Davis. Send comments to Renette by clicking here.
Created: Oct. 9, 1999
Last updated: Sept. 14, 2010