ONCE UPON A GENE - EPISODE 188 - Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger

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Dr. Kim Aldinger is a Seattle Children's scientist that studies how genes influence brain development and how those processes malfunction to cause neurodevelopmental disorders. She's also a mom to rare twins, Chloe and Grayson.

EPISODE HIGHLIGHTS

Tell us about your twins, Chloe and Grayson.

They are seven years old, fraternal twins, but wildly different. I had a surprise twin pregnancy and they were born early. Both were in the NICU, but Grayson had some lingering concerns like a low grade temperature and fussiness. He began having seizures, going into status epilepticus, and he was on a lot of medication and machines for breathing support. Chloe didn't have signs of symptoms like Grayson, but as a twin, she had a brain MRI and they found evidence of an intraventricular hemorrhage.

What diagnosis did you receive from whole exome sequencing?

We had whole exome sequencing because we thought there was a biochemical event that had initiated the seizures Grayson was experiencing. The testing came back negative, but part of what I do professionally is analyze exome sequencing, so I requested the data from the report and I didn't see anything that explained what was causing his seizures. When he was three years old, Grayson's sequencing results were re-evalutated. MAST4, associated with a brain disorder, was reported to be of uncertain significance based on literature that linked MAST4 to epilepsy.

You're changing the focus of your scientific studies. Can you talk about that?

My background is in brain development and genetics and I've mostly spent my time in a human genetics lab. Part of what I do is look at genes and figure out how they are or are not working and how that impacts brain development, specifically the cerebellum, which is responsible for motor coordination and sensory integration. The MAST4 gene isn't related to the cerebellum region, so through research to learn more, a project was born. Thanks to the American Epilepsy Society, we received a small grant to work more on the MAST4 research work.

CONNECT WITH KIM

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LINKS & RESOURCES MENTIONED

CTNNB1 Connect and Cure Conference

COMBINEDBrain

American Epilepsy Society

MAST Genes Research Foundation

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