Ask Dr. Dan: Send us your questions about Joubert Syndrome! - Joubert Syndrome & Related Disorders Foundation
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Welcome to Ask Dr. Dan, a blog series designed to answer frequently asked questions about Joubert Syndrome.

The “Dan” we’re referring to is our good friend Dr. Dan Doherty. Since 2004, Dan has been researching Joubert Syndrome through the University of Washington Hindbrain Malformation Research Program. He has generously agreed to answer general questions about JS posed by people with JS, their families, and their caregivers.

So please send us your questions! Email your questions to or send them in a direct message to the JSRDF Facebook page – just be sure to note that your question is for Ask Dr. Dan. Or, if you see us ask for questions on social media, you can leave one as a comment, if you’re comfortable doing so. We’ll review all questions and have Dr. Dan answer those that might be of interest to the broader JS community. Please note, however, that he can’t give specific medical advice about you or your family member via the blog.

And since we don’t have any questions yet, we figured we’d start with this one:

Who is Dr. Dan?

Professional stuff: As principal investigator of the University of Washington Hindbrain Malformation Research Program, Dan Doherty MD/PhD has dedicated much of his career to understanding the intricacies of Joubert Syndrome. The overall goal of his research is to improve the lives of people with JS by:

1) understanding the natural history of the condition (i.e. how people with JS move through the stages of life).
2) identifying the genetic causes.
3) dissecting the underlying biological mechanisms.
4) developing precision treatments that specifically address issues encountered by people with JS.

Dan’s research team is one of several from across the world that have contributed greatly to our understanding of JS. His team has identified 13 genetic causes of JS (or more, depending on how you count it) and collaborated with other researchers to identify 6 others. They’ve also published important papers on the natural history of JS and how different genetic causes relate to the clinical features of the condition. Now that most of the genetic causes of JS have been identified, his laboratory is transitioning to functional work to understand the biological mechanisms that will be the targets of future precision treatments.

Today, his research group includes a post-doctoral fellow (Julie Van De Weghe, PhD), a graduate student (Arianna Gomez), several undergrads (Hank Cheng, Angela Christman, Laney Finn, and Ryan Kittle), a research technician (Caitlin Miller), and a research coordinator (Jennifer Dempsey, MPH).

Personal stuff: Dan grew up in Penfield, N.Y., just outside of Rochester. He’s the son of a medical geneticist and an artist, which may be why he had a hard time choosing between studying biology at the Massachusetts Institute of Technology or going to the Eastman School of Music to play viola, an instrument he picked up in fifth grade (he previously played violin). In the end, he went with MIT.

He played competitive Ultimate (Frisbee) while studying at both MIT and the University of California, San Francisco, where he earned his MD/PhD. His MIT team went to Nationals twice and he played on teams that took second place in four National and World championship finals. He’s still bitter that he never won.

He fell in love with pediatrics during his first medical rotation. Thus, it was no surprise that he pursued a pediatric residency at the University of Washington in Seattle. Early in his residency, caring for a Somali refugee with a developmental disability and seizures galvanized his commitment to improving the lives of people with neurodevelopmental conditions. After grad school, he melded those interests by pursuing a fellowship in Developmental-Behavioral Pediatrics.

Dan lives with his wife, son, and daughter in north Seattle. He enjoys spending time with his family, reading books assigned to him by his son, playing tennis, and soaking up the natural beauty of the Pacific Northwest’s mountains and ocean. He recently started playing music again after a 20-year hiatus, but he’s returned to the instrument he dropped in fifth grade: the violin.