Dr. Katy Phelan: The Origins of Phelan-McDermid Syndrome + Why Hope Is Growing
Dr. Katy Phelan
Geneticist and Phelan-McDermid Syndrome namesake
About this conversation
Welcome to GENEration Hope — I’m Ron Kleiman. Today’s guest is Dr. Katy Phelan, a pioneering human geneticist and one of the founders of the Phelan-McDermid Syndrome Foundation (PMSF). This conversation was recorded at the PMSF Annual Conference (2024). Dr.
Phelan takes us back to the earliest days of how Phelan-McDermid syndrome was first identified, how families found each other long before social media, and why community became a turning point for so many parents.
We also break down diagnostics in plain language — including microarray, sequencing, and why chromosome analysis can still matter — and we talk about what’s giving families real hope as research and treatments move closer.
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Key topics
- syndrome history
- diagnosis
- community building
Transcript
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