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Artwork for The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope

The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope

Phelan-McDermid Syndrome Foundation
Phelan-Mcdermid Syndrome
Clinical Trials
SHANK3
Neuropsychiatric Illness
Neuren Pharmaceuticals
Genetics
JAG201
PMSF International Family Conference
Personalized Medicine
Natural History Study
Nnz-2591
Insulin-Like Growth Factor 1
Genetic Testing
Myelination
Nitric Oxide
Gastrointestinal Transit Testing
Natural Language Samples
Communication Development
Inchstone Project
Autism Brainnet

Stay 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

PublishesMonthlyEpisodes37Founded3 years ago
Number of ListenersCategories
ScienceLife Sciences

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Artwork for The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope

Latest Episodes

Sensitive Content Notice: This episode discusses brain donation and postmortem tissue research.

Our goal at PMSF is to provide clear, transparent information so families can better understand all areas of research. While we approach this sensitive ... more

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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

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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

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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

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Recent Guests

Alycia Halliday
Chief Science Officer, Autism Science Foundation
Autism Science Foundation
Episode: Autism BrainNet with Dr. Alycia Hallady and Lilliam Acosta
Lilliam Acosta
Outreach Manager, Autism BrainNet
Autism BrainNet
Episode: Autism BrainNet with Dr. Alycia Hallady and Lilliam Acosta
Carla D'Imperio
Director of Family Support, PMSF
PMSF
Episode: Countdown to the Conference - The Climb We Make Together
Amanda Bergen
Director of Communications, PMSF
PMSF
Episode: Countdown to the Conference - The Climb We Make Together
Dr. Benjamin Scott
Assistant Professor at Boston University; neuroscientist focused on brain-behavior relationships and cross-species research
Boston University
Episode: A Cross-Species Approach to Advancing Research in Phelan-McDermid Syndrome with Dr. Ben Scott and Amanda Fath
Amanda Faith
Graduate student at MIT working in Guoping Feng's lab; focuses on SHANK-3 mutations and translational modeling
Massachusetts Institute of Technology
Episode: A Cross-Species Approach to Advancing Research in Phelan-McDermid Syndrome with Dr. Ben Scott and Amanda Fath
Jonathan Santoro
Pediatric neurologist, 2025 Shannon O'Boyle Memorial Neuropsychiatric Illness Grant awardee
Children's Hospital of Los Angeles
Episode: Dr. Jonathan Santoro - 2025 Shannon O'Boyle Memorial Neuropsychiatric Illness Awardee
Natasha Ludwig
Pediatric neuropsychologist, Inchstone Project contributor
Kennedy Krieger Institute; Johns Hopkins University School of Medicine
Episode: Every Inch Counts: Updates on the Inchstone Project with Drs. Natasha Ludwig and Jenny Downs
Jenny Downs
Head of child disability team, Kids Research Institute
Kids Research Institute, Australia; University of Western Australia
Episode: Every Inch Counts: Updates on the Inchstone Project with Drs. Natasha Ludwig and Jenny Downs

Host

Lauren Schmitt
Chief Science Officer of the PMS Foundation; host of ongoing conversations about PMS research, clinical care, and community engagement.

Chart Rankings

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Talking Points

Recent interactions between the hosts and their guests.

On the move: Jaguar Gene Therapy Updates
Q: What does the administration of JAG 201 via ICV mean for families?
JAG 201 is administered through intracerebroventricular injection, a procedure performed by a neurosurgeon that directly delivers the therapy into the brain, aiming at effective distribution throughout the CNS.
On the move: Jaguar Gene Therapy Updates
Q: Can you share the importance of the relationship with PMSF and some of the things that we've consulted on?
Jaguar is grateful for the strong relationship with PMSF, stating that the JAG201 program wouldn't be where it is without the help of the entire PMS community, which provided critical feedback on trial designs.
Dr. João Peça - 2024 Translational Grant Awardee
Q: What is your hypothesis about Shank3's role in the nucleus?
Shank3 could capture specific proteins in the nucleolus, regulating gene expression and influencing the development of neurons and glia.
Dr. João Peça - 2024 Translational Grant Awardee
Q: What does your project aim to accomplish?
The project aims to understand the changes in synaptic and neuronal activity associated with Shank3 and to explore both treatment options and the underlying causes of these changes.
Dr. Julia Dallman - 2023 Grant Awardee for the PMSF Translational Research Award
Q: Are there any other challenges you faced that have delayed the course of this project?
Unexpected interest from an international population required the creation of a broadly usable version of the app, which slowed down the process but was deemed necessary.

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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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2. Up First from NPR
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this podcast launched 3 years ago and published 37 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. Alycia Halliday
2. Lilliam Acosta
3. Carla D'Imperio
4. Amanda Bergen
5. Dr. Benjamin Scott
6. Amanda Faith
7. Jonathan Santoro
8. Natasha Ludwig

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