People at Center of Clinical Research — An Approach to Finding a Treatment for Huntington’s Disease

Imagine you are 18 years old and you’ve just learned the results of a genetic test indicating you have a mutation in the gene that is associated with the development of Huntington’s disease (HD). This result would impact every decision you make from this point forward. Your expectations, aspirations and goals would all be impacted by the knowledge that you will develop this progressively degenerative disorder that will lead to the breakdown of your brain’s nerve cells.

This is the story I heard from a young man who spoke at the very first HD conference I attended. I am a senior researcher in neuroscience at Genzyme, and have been leading the HD research program since 2008. I will never forget this young man’s story and I keep him in mind every day as I work to develop potential treatments for this devastating disease.

People with HD develop symptoms between the ages of 30 and 50 — during the prime of their lives — and the patients and caregivers I’ve met over the years fuel my passion for HD research. Knowing that the work we perform in the lab has the potential to impact the lives of these patients is what motivates our team to work diligently to research and develop new therapeutic strategies.

I believe there is an important relationship between scientists and patients. As scientists, our goals are clear: to slow or stop the progression of this devastating disease, and provide patients with hope. Hope for a healthier future and a life without the challenges of their disease. The patients in turn provide us with the motivation to face highly complex problems in the laboratory and the determination to keep pushing forward despite obstacles and scientific setbacks. Their strength in the face of this disease is inspirational and makes any research hurdle seem surmountable.

We engage with HD patients directly and have ongoing conversations with advocacy organizations to help shape our scientific approach. This type of cross-functional collaboration provides us with a unique and sometimes unexpected understanding of the disease, beyond what we learn in textbooks and the scientific literature. Direct engagement with people living with HD guides both our research and importantly, the design of clinical studies. For example, while the motor manifestations of HD tend to be the most prominent and trigger a clinical diagnosis, patients tell us that the cognitive aspects of their disease are the most troublesome and debilitating. Clearly this information helps shape our ideas for a successful therapeutic strategy.

Research into HD has been a long-standing interest at Genzyme. We helped map the disease gene on chromosome 4, work that provided the foundation for the development of the first diagnostic test for the disorder. Currently, we are collaborating with Voyager Therapeutics and CHDI, one of the largest private foundations for HD research, on the development of a gene therapeutic strategy for treating HD.

Our scientists are inspired by the people they are able to impact through their work and scientific discoveries. While there is much more research still to be done, we are committed to continuing to work hard every day on behalf of all of the people affected by HD.

This op-ed is a part of a Huntington’s Disease Awareness Month collection and in collaboration with The Lion’s Mouth Opens, which premiered on HBO this June 1st and is available on HBO Go and HBO Now.