Angelman syndrome and Dup15q syndrome: two rare diseases working together to solve each other’s puzzles – a conversation with Jill Silverman and Nathalie Buscher
Written by Lauren Pulling (Neurology Central), Jill Silverman and Nathalie Buscher (Both University of California, Davis, CA, USA)
At present, over 1000 rare neurological diseases have been recorded. With some of these diseases affecting only a handful of individuals worldwide, the very nature of them means that recognizing clinical features and developing treatments is a significant challenge not only for researchers and clinicians, but so too for patients and their families.
Today marks Rare Disease Day, an international effort to raise awareness about rare diseases and their impact on patients’ lives. In honor of this, we spoke to Jill Silverman and Nathalie Buscher (both from University of California (UC), Davis, CA, USA), whose work centers on the rare neurological genetic disease Dup15q syndrome, which, interestingly, has a number of parallels with another rare neurological disorder, Angelman syndrome. They both involve mutations in the gene UBE3A and are, if you like, two sides of the same coin. In this interview, Drs Silverman and Buscher discuss their work, and how these two rare diseases are shedding light not only on each other, but also a wealth of other neurological disorders.
First, please could you tell us a little about your background?