Researcher Profile: Paul Wang, M.D.

Paul Wang, M.D., is the Deputy Director of Clinical Research Associates, LLC (CRA), an affiliate of the Simons Foundation. Wang is a developmental-behavioral pediatrician, and he worked at CHOP from 1994-2002. He participated in the care of hundreds of children with developmental disabilities and genetic diagnoses, with a particular focus on Williams syndrome, Down syndrome, and the 22q11.2 del population.

Since leaving CHOP, Wang worked at Pfizer (on neurologic and psychiatric drug trials) and at Seaside Therapeutics, which was a biotech focused on Fragile X syndrome and autism. He later moved to Autism Speaks, and have been at the Simons Foundation since 2016.

Wang finds it incredibly energizing to work in New York City, and to be surrounded by the fantastic scientists (and visitors) at the Foundation. But when the weekend comes, he’s much happier to be at home, with the woods and stream in my backyard.

We interviewed Dr. Wang about his research:

How did you first start collaborating with Simons Searchlight research?

My collaborations with the Simons Searchlight team focus on the 16p deletion community. My Simons colleagues Alice Luo Clayton and Brigitta Gunderson coordinated with a group of academic researchers to study the effects of an experimental medication (arbaclofen, a GABA-B agonist) in mouse models of the 16p deletion. This medication has previously been tested in autism and in Fragile X, showing good safety, and some hints of benefit. In the 16p mouse models, arbaclofen produced improvements in memory and motor behaviors, which has led us to think about a potential trial in patients with the 16p11.2 deletion.

How have you and your team used information collected from Simons Searchlight families in your projects? What type of data did your team use, and was it associated with a specific gene change?

The extensive Simons Searchlight research on the behavioral and neuropsychological phenotype of 16p del has helped us understand the challenges and strengths that these individuals have. These data are critical guideposts for us, as we design a future medication trial with arbaclofen.

How has using Simons Searchlight data helped in our understanding of the genetic changes associated with autism and developmental delay? 

Simons Searchlight has provided invaluable insights on the genetic conditions associated with autism, and on the variability seen within specific genetic conditions. In this sense, Simons Searchlight is really proving how important genetic “background” and environmental factors can be in shaping individual outcomes. This is an approach to research that I think is very important, as my own academic research took the same approach with Williams and Down syndromes and the 22q11.2 deletion.

From a researcher’s perspective, how important is it for families that have rare genetic disorders to become involved in a registry study? 

Participating in registry studies helps researchers to understand each genetic condition more deeply. In the near term, understanding each condition can help the other families with the same diagnosis to understand the range of challenges and complications that they might face. In the longer term, we hope that today’s research will pave the way for future treatments and supports that are specific to the genetic condition that an individual has.

What are your future plans for collaborating with Simons Searchlight or using Simons Searchlight data?

My work today is focused on 16p del, but we hope that future work on treatment development will extend to other genetic conditions as well. We will be carefully thinking about the phenotype and the biology of each condition, as we think about what treatments and supports might be helpful to that community.

For more on Dr. Wang’s work, click here to view an article featuring Dr. Wang on SFARI.org.