Unraveling the Genetics of Neurodevelopmental Disorders

Arnold Kriegstein, MD, PhD; and Yin Shen, PhD
2016 - 2019 Weill Innovation Awards

"One of my cousins began exhibiting symptoms of schizophrenia, and I [became] curious about the genetic and environmental drivers of the disease. I wondered why my family had been spared." Yin Shen, PhD

For Dr. Yin Shen, working on a project with Dr. Arnold Kriegstein, the director of UCSF’s developmental and stem cell biology program, is something of a dream. Trained in genomics and gene regulation at UC San Diego’s Ludwig Institute for Cancer Research, Dr. Shen approached Dr. Kriegstein to propose their Weill Innovation Award project just over a year after assuming her first full-time faculty position in UCSF’s Department of Neurobiology. Together, the two hope to use their award to untangle the genetic basis of complex neurodevelopmental disorders, such as autism, schizophrenia, and intellectual disability.

Some of the best ideas come from junior faculty: “Yin approached me with this terrific idea and asked if I’d be willing to help. I thought it was a wonderful opportunity for me to learn from her and share the expertise that I could provide.” Arnold Kriegstein

What makes this project unique: “We’re applying cutting-edge functional genomics tools to study how genes are regulated in different human brain cells. Ultimately, we want to understand how genetic variants modulating gene expression can contribute to complex neurodevelopmental disorders, and we hope to develop biomarkers for disease prediction and diagnosis.”” Yin Shen

Why philanthropy matters: This is a high-risk project with the potential to make a big impact because it brings really cutting-edge technology and precious, finite resources to a global issue. We understand almost nothing about the etiology of neurodevelopmental diseases, but this project could change all that.” Arnold Kriegstein

Before they were scientists: “When I was a kid, my parents told me stories about my grandfather, who had five perfectly normal children but had been institutionalized because of his schizophrenia. In recent years, one of my cousins began exhibiting symptoms of the disease, and I got really curious about its genetic and environmental drivers. I wondered why my family had been spared, but theirs had not.” Yin Shen

“I grew up with an identical twin brother, and we were both fascinated by science from an early age. As young children, we were interested in whether we had an extrasensory or supernatural connection, so we did a variety of experiments to find out. The results were not positive, but devising the tests contributed to my early interest in science.” Arnold Kriegstein