Dr. Jason Shepherd

Dr. Jason Shepherd didn’t originally plan on pursuing a career in Angelman syndrome research, but it is a path that he is incredibly inspired to be walking along. Growing up, Shepherd knew that he wanted to be a scientist or a doctor, but was fascinated by how the body worked and it was the brain that intrigued him most.

Shepherd grew up in South Africa and immigrated with his parents to New Zealand when he was 14 years old. After high school, he conducted undergrad work in neuroscience at the University of Otago in Dunedin, New Zealand, where he earned his B.S. He always dreamed of pursuing his Ph.D. at a major institution, and had the opportunity to do a research project for a year at the University of California-Irvine as an exchange student, which enabled him to enter the U.S. university system. He later earned his Ph.D. at Johns Hopkins University, and has stayed in the U.S. ever since. He worked at MIT in Cambridge for five years before moving to Salt Lake City.

“As a post-doc in Mark Bear’s lab at MIT, I was exposed to Fragile X syndrome, and we worked on the premise that basic science understanding is the first step—we do not know enough about the brain to completely tackle developmental disorders,” says Shepherd. “We worked on a protein called Arc, which seems essential for consolidating memory and turning experiences into long-lasting changes in the brain.”

At the same time that Shepherd was characterizing Arc, Dr. Michael Greenberg’s lab at Harvard published a paper showing that Arc protein expression was regulated by UBE3A. This finding led to Shepherd’s interest in AS.

Shepherd, now running his own lab at the University of Utah, is investigating the role of Arc in the cognitive dysfunction associated with AS, which was recently funded by the ASF. Shepherd is currently an Assistant Professor of Neurobiology and Anatomy and currently has two post-docs and two grad students working along side of him in his efforts to further understand Arc and UBE3A, with the ultimate goal to help individuals with AS.

“Utah has a very collaborative environment—our department has hired five people in just the past couple years, and it is a very young group that is excited about the future,” says Shepherd. “Plus, I am a huge outdoors fan—so are my Husky and Rhodesian Ridgeback—and having access to the mountains and great outdoor opportunities in the Salt Lake City area is wonderful. I am very happy to be here.”

“I am excited about the future of AS research—I think we’re on the cusp of really nailing down the pathway that is critical for the cognitive deficits in AS,” says Shepherd. “There is a link between Arc and UBE3A and that is what we are trying to further understand. We believe that AS results from a defect in how the brain is shaped by experience. Parents don’t notice developmental deficits until a few months or years of age, and we think that Arc links experience-dependent processes in brain deficits.”

“The Angelman community is quite collaborative, which is fantastic,” says Shepherd. “Receiving the ASF grant was phenomenal, as it helped establish my lab and give focus to the projects my lab works on.”

At the end of the day, it’s the individuals with AS and their parents that keep Shepherd motivated. “Since receiving the ASF grant, I have been involved on Facebook and in social media communities with parents, and they are a huge inspiration. There are many educated parents who know so much about AS, and it is inspiring to speak with them,” says Shepherd. “Furthermore, the funding climate for research is extremely tough, and I am grateful for the ASF and its supporters for investing in our work.”