Meet Matthew Bainbridge, PhD, TESS Scientific Advisory Board Member

Meet Matthew Bainbridge, PhD, TESS Scientific Advisory Board Member

How did you become involved with TESS Research Foundation and what inspires you to continue working with TESS?

I was first put in touch with Kim when I had diagnosed her friend’s daughter with a rare genetic disease. Two of Kim and Zach’s kids were undiagnosed at the time. My laboratory at Baylor discovered the gene mutation that led to the diagnosis for Kim and Zach’s kids. Kim founded TESS Research Foundation and asked me to be on its Scientific Advisory Board.

Fundamentally, I think life is extremely unfair. And it’s our obligation to help each other out when and where we can. I am good at science-y stuff, so that’s what I do.

What is your current role outside of TESS Research Foundation?

I am the acting head of research at Rady Children’s Institute of Genomic Medicine. I help find new disease genes, and ‘weird’ variants in undiagnosed kids with rare, genetic diseases.

What do you think are the most pressing challenges facing our SLC13A5 community?

We still don’t understand why the SLC13A5 kids get sick. Citrate can do so many things in the body; energy source, carbon source, signaling, precursor molecule for many cellular processes. Which one of these contributes to the phenotype? It’s still not clear. It’s infuriating.

Why is the patient voice so important in scientific research?

I think working closely with patient families really highlights the psycho/social costs of having a kiddo with a rare disease. These impacts are often pooh-poohed in scientific circles as being “soft”, but it is a huge part of their lives and the “cost” associated with rare disease.

This is our second interview with Matthew. You can read his first interview here.

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