"It’s about helping people. It’s about smart people coming together. It’s about having just enough energy to create a spark to change the world." –HD2016 attendee This past week, I had the inspiring experience of attending the Hereditary Disease Foundation’s biannual conference, HD2016. It was three days of talks and conversations with scientists dedicated to Huntington’s Disease research. One the things that struck me most at this conference was how collaborative and supportive these scientists are. The HD scientific community is, as many attendees said, a family, and we are dedicated to finding a cure. There are many ways that science can work, but it cannot work in a vacuum. The experience of placing my work, which is already extremely collaborative, in the context of an entire field of research on this disease was invaluable. One of the many things I learned at this conference was the rich history of HD research. From Dr. George Huntington describing the disease in 1872 because of its prominence in the small community where he grew up, through the establishment in 1980 of an incredible coordinated effort to study a highly affected community in Venezuela, to the discovery of the mutated gene in 1993 due to that study. We are still reaping the benefits of data collected from that Venezuelan community today. The meeting started off by grounding us in our purpose - an incredible visit from an HD patient and his family. Their creativity and bravery in dealing with his disease, and in talking so candidly about it to a room of strangers, were so inspiring. The patient's perspective is critical for researchers, and in answering questions like "which symptom of your disease would you cure first?" (Answer: memory loss, when many people think of HD as a movement disorder), it gave us indispensable insight. The first talk shared the exciting news that, 22 years after the discovery of the mutated Htt gene, a clinical trial is underway for a drug that will silence that gene. It is an exciting advance for the field, though it will be years before these drugs enter regular use in the clinic, if it proves effective. I also appreciated the reminder that this treatment, even if it works, will be expensive and require the kind of hospital infrastructure that not everyone has access to. The field won't consider the problem solved until we have a solution that we can bring back to Venezuela and all communities in need of it. The rest of the conference underscored how far we have to go. Despite 20 years of study, we are still learning of new functions of the Htt protein - in autophagy, development, DNA repair, and more - and debating whether that protein is the only important target in this disease. Because of the huge variety of molecule and pathways affected in HD, we still need to work out which are drivers of disease, and to determine what the best biomarkers are to test if a treatment is working. And there was much talk of new and better models for lab research of HD, from neurons in a dish created from patient skin samples, to mice, flies, and sheep. There were stimulating talks from leaders in the field of genome editing discussing how exciting new technology could be put to use for these patients. I wish I could do justice to all of the amazing science presented at the conference. But there is one important message I got from this conference that takes precedence: We can solve this, but we aren't done. Get back to work.
2 Comments
AKTINA Daigle
8/9/2016 12:08:31 pm
Your comments made me feel like I was at the Conference myself-very insightful! Enjoyed reading this.
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Amanda
8/9/2016 02:20:06 pm
Thanks! :)
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AuthorAmanda Kedaigle's work in the Broad Institute focuses on leveraging brand new biological data modalities to study novel models of human brain development. Archives
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