The Chromosome 18 Clinical Research Center is dedicated to understanding and treating the conditions of chromosome 18.  Indeed, we are the only research center in the world with this focus.  However, we do not work in a vacuum.  Other scientists and researchers are also actively working to solve the problem of chromosome conditions.  They, like us, believe that it is possible to make chromosome conditions "treatable".  It is for this reason that a team from the Chromosome 18 Clinical Research Center attended a 3-day Keystone Symposium on the Biology of Down Syndrome: Impacts Across the Biomedical Spectrum.  The team included Jannine Cody, PhD, President of the Chromosome 18 Registry and Director of the Chromosome 18 Clinical Research Center; Daniel Hale, MD, Medical Director of both the Registry and the Research Center; and Jonathan Gelfond, MD, PhD, a long-time collaborator and bioinformatician.  After spending several days exchanging ideas with other scientists, Dr. Cody has several "take-aways" to share.

First, we face some of the same experimental hurdles as our colleagues that are focused on Down syndrome.  For example, we both need to understand how an extra or a missing gene translates into functional consequences for the cell and for the whole organism.  Some Down syndrome researchers presented interesting approaches to these questions by measuring specific chemicals (biomarkers) in critical tissues and assessing behaviors in unique mouse models.  Their ideas and strategies broadened our scope and established paradigms that can be adapted to our own work on chromosome 18.

Secondly, we learned that obtaining and sustaining funding is daunting even for research groups that work on Down syndrome, a condition that is much more common than the chromosome 18 conditions. Interestingly the majority of Down syndrome research was supported by philanthropy and parent/family support groups.  There was little funding from the more traditional sources, such as the National Institutes of Health (NIH) or March of Dimes.

Lastly, the progress made in the area of Down syndrome increases the hope that there will be effective treatments for chromosomal conditions.  For example, there is a mouse study underway using a chemical that stimulates brain growth.  While much remains to be done before this chemical can be used in humans, it is exciting to see that such progress is being made for Down syndrome.  It is setting an exciting precedent for future treatments for chromosome conditions.

Moving forward, collaboration continues to be key.  By sharing ideas, successes, and failures, researchers of chromosome conditions, including chromosome 18 conditions, will continue to help each other reach our goals.