Discovery of new mechanism of brain cell injury in Huntington's disease offers new approaches to treatment
Scientists at the Brain Research Centre and Centre for Molecular Medicine and Therapeutics have uncovered a key cellular mechanism that alters brain cell function in Huntington’s disease, and identified a possible treatment for the disease.

The researchers found that, in mouse models, the genetic mutation that causes Huntington’s disease results in an excessive number of NMDA receptors—special receptors found at the surface of brain cells—to accumulate and be active outside synapses, which are the connections between brain cells. In healthy conditions, there should be few NMDA receptors outside the synapse.
Read the media release.
Read the study in the January 28 edition of the journal Neuron.

Calculating HD Risk
A team of researchers from Erasmus University Medical Centre and Leiden University Medical Centre in The Netherlands have discovered a method of calculating an individual’s HD risk without taking any tests, providing genetic counsellors with another valuable tool.

Conducted by Reinier Timman, Benno Bonke, Theo Stijnen, Aad Tibben and Anneke Maat-Kievit, the study found that the majority of people at risk for HD are often afraid to learn more about their genetic status, and their risk of HD may be based on whether the person is a child of an affected individual (50-percent risk) or the grandchild of someone with HD (25-percent risk). Instead, the Netherlands-based project is proposing a better estimation of risk based on factors like current age, length of the CAG repeat in the HD gene in close relatives, information at the age of onset and test results in children. The formula for determining residual risk status (RRS) is provided in a simple spreadsheet format that can be used by genetic counsellors.

Before undergoing a predictive test for HD, the study suggests that individuals may want to learn their residual risk status (RRS) based on their present age and unaffected state. The results can help genetic counsellors better prepare their clients in a pre-test situation or they may influence the decision process, helping an individual decide whether to either proceed with or delay predictive testing.

Before the RRS can be calculated, it must be determined that the individual is asymptomatic for HD, preferably through a neurological exam. Next, the CAG repeat length must be estimated based on the CAG repeat length of the individual’s parent, assuming the HD gene has been inherited. The parent’s age of onset (AO) or a sibling’s AO or CAG can be used if the parent hasn’t been tested. The gender of the affected parent is also important since studies have shown that a gene from the paternal side usually results in a larger CAG repeat length.

The final step is based on the probability that the individual is still symptom-free, given the estimated repeat length. At this point, the RRS can be calculated, though counsellors may also consider any children who have been tested and shown to be gene negative.

Data was drawn from 755 individuals enrolled in the Dutch cohort study, tested between 1993 and 2000, with a CAG repeat length of more than 35. The study’s subjects came from 344 different HD families of which 614 were affected and 141 were asymptomatic gene carriers.

Based on the absence of symptoms and family history, the RSS tool can increase the amount of information that genetic counsellors can offer their clients. The tool is an effective one in helping individuals make a decision surrounding predictive testing – whether to test soon or postpone it for a few years.
A copy of the study can be found at here.

Partners in Research
The Huntington’s Disease Society of America (HDSA) is a national, voluntary health organization dedicated to improving the lives of people with HD and their families.  The organization strives to promote and support research and medical efforts working to eradicate HD, and also assist those with HD and their families in coping with challenges associated with the disease.

The organization is an active one, supporting more than 40 scientists and 16 major HD laboratories in North America and around the world through their HDSA Coalition for the Cure. Twenty-one HDSA Centers of Excellence are located in major hospitals and university medical centres throughout the United States. The national office also produces and distributes, free of charge, publications and informational materials on HD and maintains a toll-free information hotline to assist physicians, patients and family members.

HDSA makes itself available throughout 12 regions, 38 volunteer-based chapters and affiliates and more than 200 support groups, reaching out to HD patients and their families by offering guidance, encouragement, resource information and leadership opportunities at HDSA events, meetings and seminars. For more information, visit www.hdsa.org.

Dr. Hayden Presentation
Dr. Hayden’s presentation from January 18, 2009 in Toronto on Personalized Medicine: Hype or Hope- A Canadian Perspective is now available to be viewed on the internet along with his PowerPoint presentation slides.
Click here to access the video

FuRST-pHD Research Project
The Huntington Society of Canada is working with the Ontario Cancer Biomarker Network and Dr. Mark Guttman to conduct research on the development of a Functional Rating Scale for individuals with Pre-Huntington Disease.  This research will help with assisting physicians to diagnosis and treat HD EARLIER than ever before, as well aid in documenting the efficiency of drugs in clinical trials.  The FuRST-pHD project will be conducting separate focus groups for individuals living in the Toronto, Ontario area who are pre-Huntington disease, early Huntington Disease and caregivers.  The purpose of these groups will be to openly discuss which signs and symptoms of HD are worrisome, bothersome or interfere with daily activities. The focus groups are planned for early spring. If you are interested in participating in these groups please contact Jo Anne Watton at 1-800-998-7398, ext 32. 

New HD Clinical Trial
The Huntington Study Group (HSG) is conducting a study of the research medication ACR16 in persons 30 years of age and older who have clinical features of Huntington Disease (HD). HART is designed to determine the general safety and tolerability and an effective dose of ACR16 as well as the effect of ACR16 on motor (movement) and cognitive (thinking) abilities in subjects with HD.

Click here to see the list of participating sites
To read the press release click here

HDSA- New Executive Director
In the thirteen years since Barbara Boyle joined the Huntington’s Disease Society of America (HDSA) as National Executive Director/CEO, the Society has grown to become a major source of help and hope for the Huntington’s Disease (HD) community. Barbara has decided that it is time to retire from her responsibilities at HDSA, knowing that the programs of research, care and education are moving forward, and the Society is strong.

Louise Vetter, presently CEO of the American Lung Association of New York. Louise will join HDSA as our new CEO on Monday, March 16, 2009.