Dr. Katy Phelan: The Origins of Phelan-McDermid Syndrome + Why Hope Is Growing

Dr. Katy Phelan

Geneticist and Phelan-McDermid Syndrome namesake

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. If conversations like this are helpful, please subscribe and turn on notifications so you’re alerted each month when a new interview drops, along with updates from GENEration Hope. Stay Hopeful, Ron ⸻ Chapters (paste into YouTube) 00:01:21 Who is Dr. Katy Phelan (geneticist + PMSF founder) 00:01:44 “Girls aren’t built for math” — and proving that wrong 00:03:17 Why human genetics (and the Celtics + PMS colors story) 00:04:39 The first 22q13 deletion case and the start of collaboration 00:06:04 Community and siblings 00:07:41 How close are we to treatments? (optimism + perspective) 00:09:26 Microarray explained (and what it can’t tell you) 00:10:22 Why chromosome analysis still matters (ring chromosomes) 00:12:10 Publishing → families calling → learning from parents 00:13:05 “They wanted a name like Down syndrome” 00:14:26 The first meeting (grant, logistics, and rapid growth) 00:18:03 Early whole genome sequencing + diagnostic guidelines 00:20:11 US insurance vs Canada timelines/access realities 00:21:34 Gene therapy: what families worry about most 00:24:38 Misdiagnoses and missed chromosome tests 00:29:37 Toronto: why SHANK3 variants may be undercounted 00:31:38 Shank3-related vs Shank3-unrelated PMS (inclusion) 00:35:41 Deletions vs variants: what it can mean clinically