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| Edward Ginns, MD, PhD |
Edward Ginns, MD, PhD, professor of psychiatry, has discovered that a rare genetic dwarfism called Ellis van-Creveld (EvC) syndrome protects against bipolar affective disorder, according to a story in the Boston Globe.
Carolyn Johnson, science reporter for the Globe, explains how the finding is one of a number of cases where a specific genetic mutation promotes health instead of disease in the Oct. 15 article. Probing the genetic mutations that are protective may help scientists understand how these diseases are caused at the molecular level, as well as aid in the creation of drugs that have an effect similar to the genetic mutation.
“What has happened is the pieces of the puzzle came together more recently over the last several months,” Dr. Ginns told the Globe. “What we are reporting is that here’s the phenomena that this rare genetic disorder, the mechanism in it which was not obvious years ago, that actually protects those individuals from getting bipolar disorder.”
Ginns and colleagues plan to look more precisely at the mechanisms that underlie the protective effect so that they can examine its function more closely in laboratory tests and in animal models.
Read the full article at http://www.bostonglobe.com/news/science/2014/10/15/rare-form-dwarfism-may-protect-against-bipolar-disorder/Ji55jf5SqO282P8MlAJTTO/story.html
Related link on UMassMedNow:
Rare genetic disease protects against bipolar disease
