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In 2020, the INADcure Foundation was matched with Clement Chow, Ph.D., through the CZI Rare As One Network‘s Science Advisor Program. Dr. Chow’s extensive background and expertise in rare disease genetics made him an ideal addition to the Foundation’s team. As an Associate Professor in the Department of Human Genetics at the University of Utah School of Medicine, Dr. Chow’s innovative approach to drug screening, specifically examining the eye of fruit flies, has led to the identification of potential new treatments for several rare disorders.

Following his role as a Science Advisor to the Foundation, Dr. Chow was invited to join our esteemed Scientific Medical Advisory Board (SMAB) in 2022. His contributions have been invaluable, providing insights that have influenced the strategic direction of our Foundation. With his dedication and expertise, we are further empowered in our relentless pursuit to find effective therapeutic options and, ultimately, a cure for INAD.

Photo of Clement Chow, Ph.D., Associate Professor, Department of Human Genetics, University of Utah

Clement Chow, Ph.D.

Associate Professor
Department of Human Genetics, University of Utah

LET’S MEET: Dr. Chow

Tell us a little bit about yourself.
I received my BA from Cornell University in 2003. I completed my Ph.D. in 2008 in the Department of Human Genetics at the University of Michigan, where worked with Miriam Meisler. I completed my postdoctoral training as a co-mentored postdoc with Andy Clark and Mariana Wolfner at Cornell University. While not in the lab, I am wrangling two unruly children and four chickens.

Why did you choose your career?
I wanted to run a lab that made a difference for people living with rare diseases. Because of the academic freedom in a university lab, we are able to pursue a number of under-studied rare diseases.

When did you first decide you wanted to work with rare diseases? Please share what led to that decision.
As a college student, I did an internship with genetic counselors in a perinatology clinic (high-risk pregnancy). This experience helped me become interested in studying the causes of genetic disorders. In graduate school, I discovered a new form of Charcot Marie Tooth Disease and received a lot of input from the families. They made me realize that even just the discovery of why people are sick can have a huge benefit to their lives. My thesis work cemented my desire to make a real difference in rare diseases. The rest is history.

Tell us a little about any current/previous work with other rare diseases. For example, have you ever been a part of a team that has worked on gene therapy/other drug development initiatives before, or has brought a potential treatment to a clinical trial? What has been one of your most rewarding experiences?
My whole lab is focused on rare diseases. We study genetic modifiers of rare disease and perform drug repurposing screens. We partner with induvial families and foundations to identify potential FDA-approved molecules that may help individuals living with those rare diseases. My lab primarily focuses on Congenital Disorders of Glycosylation, but the families we work with span a number of different neurodevelopmental disorders. This drug repurposing effort has been incredibly rewarding. In at least one case, the identified drug is already being administered to the kids.

Why did you choose to work with the INADcure Foundation?
They sought me out through the CZI Rare as One initiative. INADcure is incredibly organized and determined and I thought that my expertise could further help the foundation move forward.

What recent breakthroughs have gotten you most excited for the future of rare disease?
The more recent attitude that we need to pursue all avenues from gene therapy to drug repurposing to see what works. I think that this openness will begin to be successful and we will see new therapies for all kids of rare diseases.

What is your favorite part of the work you do?
Working with rare disease families and foundations

What do you do to relax (or have fun)?
I love to go fishing in the Utah mountains. I also love to garden.

If you could have a lifetime supply of anything, what would it be?
Sour Patch Kids

Last (or Best) book read?
Crying in H Mart by Michelle Zauner

If you could have one superpower, what would it be?
Pausing time

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