A Word From our CEO
August 11, 2014
I have just returned from the Hereditary Disease Foundation research convention named “The Milton Wexler Celebration of Life” in Cambridge, Massachusetts.
It was an enriching few days spent with close to 300 researchers working together and sharing their findings for the benefit of finding answers to treat and stop HD.
It was 21 years ago, in early March 1993, that the team working on finding the HD Gene, found it.
They found it thanks to a very young boy who got sick at 2 years of age and died at age 11, of Juvenile HD. This little Venezuelan held the answer to CAG repeats.
Finding the gene responsible for HD was only part of the story and scientists have been collaborating globally since then to understand the cell biology of HD in their quest to find reliable treatments. It is an incredibly difficult task but great progress has been made by many committed people.
The first day started with a panel discussion, ”Living with HD.” Dr. Allen Goorin from the Boston Children’s Hospital bravely shared his journey with HD.
Dr. Goorin was a physician and just recently had to give up his practice. At 68 years old Dr. Goorin seems to be doing well, something he attributes to his own lifelong commitment to physical activity. He and his wife openly talked about the HD discussions that they had with their daughters, how difficult it was. Their raw honesty was met with silence. A room of 300 scientists was quietly engaged and learning from what was being shared.
During the conference the current state of clinical trials was discussed. Over the years, since 2004, the number of clinical trials and participants has increased significantly. This is good news as we get closer to comprehensive treatments to stop the symptoms of HD, including the loss of cognitive ability.
There still remains a challenge to understand why different drugs work, and that is why we continue to look for bio-markers to show the efficacy of treatments and better objective measures.
It is never lost on the researchers how important a partner the HD Community is.
Many times throughout the research presentations HD families were acknowledged for their inspiration and courage to help find solutions. Without your support and participation, on many levels, we would not be as far as we are.
It was wonderful to see Dr. Jeff Carroll and Dr. Ed Wild at the conference. They are looking forward to our Conference in October and I let them know we all look forward to seeing them. I also had an opportunity to spend time with Dr. Ray Truant, Dr. Simonetta Sipione and their teams of young researchers. Together they brought 16 up-and-coming HD scientists from their labs to the conference. This is a critical development step to provide network opportunities and to profile young brilliant researchers. Both Drs. Truant and Sipione are committed to growing the next generation of HD researchers.
When I attend HD research conferences I am always amazed at the collective brilliance in the room, finding answers for HD. We have come a long way and have good reason to be optimistic.