The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope
Phelan-McDermid Syndrome FoundationStay up-to-date on the cutting edge of science and medicine in the Phelan-McDermid syndrome field! Dr. Lauren Schmitt, the Chief Science Officer of the Phelan-McDermid Syndrome Foundation (PMSF), sits down with top experts driving groundbreaking research, treatment, and care. These engaging conversations deliver the latest breakthroughs in a way that's easy to understand, keeping our PMSF communit... more
| Publishes | Monthly | Episodes | 36 | Founded | 3 years ago |
|---|---|---|---|---|---|
| Number of Listeners | Categories | ScienceLife Sciences | |||
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Latest Episodes
In this episode, Dr. Lauren meets with the 2026 PMSF Family Conference co-chairs and PMSF staff, Amanda Bergen (Director of Communications) and Carla D'Imperio (Director of Family Support).
Taking place July 15–19, 2026 in Aurora, Colorado at the Ga... more
In this episode of the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope, we explore an innovative approach to translational neuroscience: cross-species research.
Dr. Lauren is joined by Dr. Benjamin Scott (Boston University) an... more
This episode's guest:
Dr. Jonathan Santoro, MDPediatric Neurologist & NeuroimmunologistChildren’s Hospital Los Angeles (CHLA)2025 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant Awardee
Overview:
In this episode, we welcome Dr. Jonathan Sa... more
In this episode, we welcome Dr. Natasha Ludwig (Kennedy Krieger Institute / Johns Hopkins) and Dr. Jenny Downs (Kids Research Institute, Australia) for an exciting update on the Inchstone Project—a collaborative international effort to improve how we... more
Drs. Audrey Thurm and Latha Soorya join us to discuss key findings from the NIH-funded Natural History Study in Phelan-McDermid syndrome, including intellectual disability profiles, daily living skill growth, regression, and how caregiver input drive... more
Amanda Bergen, Director of Communications at the Phelan-McDermid Syndrome Foundation, steps in for Dr. Lauren Schmitt to host a special conversation with Dr. Dan Gallo, Kate Neer, and Gina Newton from Jaguar Gene Therapy. Together, they explore the o... more
In this episode, Dr. Lauren sits down with Megan O’Boyle, a longtime advocate and parent in the Phelan-McDermid Syndrome Foundation community, to talk about why research funding is so essential. Megan shares her journey with the Foundation, how her f... more
In this new episode, Dr. Lauren focuses on the diagnostic odyssey of getting a genetic diagnosis with Drs. Ame Shillington and Sheldon Garrison. Dr. Shillington is a clinical geneticist and assistant professor from Cincinnati Children’s Hospital Medi... more
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Frequently Asked Questions About This Podcast
What is This Podcast about and what kind of topics does it cover?
This show centers on cutting-edge research, clinical care, and advocacy around Phelan-McDermid Syndrome (PMS). Across episodes, conversations frequently cover natural history studies, the latest gene-therapy updates, clinical trials, and how researchers, clinicians, and patient communities collaborate to improve outcomes. Notable patterns include in-depth discussions with PMS researchers, updates from biotech and pharmaceutical partners working on SHANK3-related therapies, and emphasis on caregiver involvement and patient advocacy in shaping research directions. A standout quality is the focus on translating complex scientific advances into actionable insights for families and care teams, often featuring cross-disciplinary guests from neuro... more
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1. The Rare Life
2. The Daily
3. Up First from NPR
4. The Mel Robbins Podcast
5. SmartLess
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this podcast launched 3 years ago and published 36 episodes to date. You can find more information about this podcast including rankings, audience demographics and engagement in our podcast database.
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What guests have appeared on this podcast?
Recent guests on this podcast include:
1. Dr. Benjamin Scott
2. Amanda Faith
3. Jonathan Santoro
4. Natasha Ludwig
5. Jenny Downs
6. Audrey Thurm
7. Latha Soorya
8. Dan Gallo
To view more recent guests and their details, simply upgrade your Rephonic account. You'll also get access to a typical guest profile to help you decide if the show is worth pitching.