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PODCAST

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

Phelan-McDermid Syndrome Foundation

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 community informed and empowered. You won"t want to miss this!

science life sciences

All Episodes

00:24:12

The PMS DataHub: What Families Need to Know

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/09/23

What is the PMS DataHub? And why does participation matter?In this episode of the Phelan-McDermid Syndrome Podcast, Dr. Lauren is joined by Kathy Fiscus, PMSF Data Manager and co-principal investigator of the PMS DataHub, to explain how this important resource supports both families and Phelan-McDermid syndrome research.Kathy breaks down the difference between the current PMS DataHub and the legacy Phelan-McDermid Syndrome International Registry (PMSIR), explains how genetic reports are curated, and

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00:32:35

Diving into the Developmental Milestone Survey with...

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/09/03

In this episode of the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope, Lauren is joined by Dan Gallo, Executive Vice President and Head of Clinical Development and Medical Affairs at Jaguar Gene Therapy, and Tessa Clarkson, Clinical Development Consultant at Jaguar Gene Therapy.They discuss Jaguar’s Developmental Milestone Survey, a study designed to better understand how people with Phelan-McDermid syndrome gain, lose, and potentially regain meaningful developmental skills

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00:24:10

What Singing Mice Could Teach Us About Communication...

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/08/19

In this episode of the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope, Dr. Lauren talks with Dr. Michael Long of NYU Langone, a neuroscientist studying the brain circuits that make vocal communication possible.This episode is a fascinating look at an unconventional approach to one of the Phelan-McDermid syndrome community's highest research priorities: communication and language.Dr. Long shares how his research has taken him from songbirds and human speech to an unusual

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00:26:56

Giving Families a Voice: Building Meaningful Industry...

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/08/06

What do PMSF's relationships with pharmaceutical companies and other industry companies really mean for families?In this episode, Dr. Lauren Schmitt, Chief Science Officer, and Amanda Bergen, Director of Communications, take you behind the scenes to discuss how PMSF builds meaningful relationships with industry while keeping the voices of individuals with Phelan-McDermid syndrome and their families at the center.They explore how family feedback helps shape clinical trial design, educational

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00:30:57

Autism BrainNet with Dr. Alycia Hallady and Lilliam...

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/06/24

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 topic with care and compassion, we recognize this episode may not be suitable for everyone. In this episode, Dr. Lauren speaks with Dr. Alyicia Halladay (Chief Science Officer at the Autism Science Foundation) and Lilliam Acosta (Outreach Manager at Autism

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00:25:17

Countdown to the Conference - The Climb We Make Together

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/05/07

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 Gaylord Resort, this year’s conference is centered around the theme “The Climb We Make Together”, highlighting the shared journey of families, clinicians, researchers, and advocates working to improve the lives of individuals with Phelan-McDermid

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00:32:45

A Cross-Species Approach to Advancing Research in...

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/04/30

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) and Amanda Fath (MIT, Guoping Feng Lab) to discuss how researchers are using a shared, game-based task across humans, mice, and non-human primates to better understand how brain circuits influence perception, learning, and decision-making in Phelan-McDermid

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00:15:30

Dr. Jonathan Santoro - 2025 Shannon O'Boyle Memorial...

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/02/11

This episode's guest:Dr. Jonathan Santoro, MDPediatric Neurologist & NeuroimmunologistChildren’s Hospital Los Angeles (CHLA)2025 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant AwardeeOverview:In this episode, we welcome Dr. Jonathan Santoro, our 2025 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant Awardee, who is pediatric neurologist. Dr. Santoro's work focuses on developmental regression and neuropsychiatric illness, and he shares with Dr. Lauren why his research team

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00:45:40

Every Inch Counts: Updates on the Inchstone Project...

The Phelan-McDermid Podcast: Sharing Research,... ·

2026/01/21

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 measure progress and quality of life for individuals with developmental and epileptic encephalopathies (DEEs), including Phelan-McDermid Syndrome (PMS).We discuss:What the Inchstone Project is and why it mattersHow families helped shape new research by

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00:47:00

Behavior, Cognition, and Beyond: Updates from the PMS...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/12/03

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 drives research. Learn how these discoveries are guiding clinical trials, behavioral therapy, and everyday care—and why your family's participation makes all the difference.

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00:52:01

On the move: Jaguar Gene Therapy Updates

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/09/18

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 origins and mission of Jaguar Gene Therapy, provide an overview of the Phelan-McDermid syndrome natural history study (NHS) and why it matters, describe key insights into their gene therapy program, and discuss details about JAG201. Check out the link to

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00:48:05

Driving Research Breakthroughs: Megan O’Boyle Shares...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/09/02

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 family helped shape its commitment to science from the very beginning, and the story behind the Shannon O’Boyle Memorial Grant for Neuropsychiatric Illness.Together, Dr. Lauren and Megan also discuss PMSF’s new fundraising opportunity, Driving Research

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00:34:13

The Diagnostic Odyssey: Delays in Diagnosing...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/08/06

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 Medical Center. Dr. Garrison is Research Scientist at Rogers Behavioral Health who is on our Scientific Advisory Committee. Did You Know!? The average delay from initial concern to genetic diagnosis of rare disorders like Phelan-McDermid syndrome is over 9

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00:27:30

New Avenues in Phelan-McDermid Syndrome Research...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/06/19

In this exciting combo episode about new avenues in Phelan-McDermid syndrome research, Dr. Lauren speaks with Dr. Boaz Barak from Tel Aviv University and Dr. Haitham Amal from Hebrew University/Boston Children's Hospital. Dr. Barak describes his work on understanding the process of myelination, where "electrical cables" help brain cells to communicate, and how SHANK3 is involved in this process. He also discusses his lab's work on possible treatments for Phelan-McDermid syndrome. Dr. Barak's work

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00:29:18

Dr. Pilar Trelles and Tess Levy - 2024 Shannon...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/06/12

In this episode, Dr. Lauren speaks with the 2024 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant awardees, Tess Levy of the Seaver Autism Center at Mount Sinai and Dr. Pilar Trelles of Boston Children’s Hospital. In their project titled, "Adapting PIPS for Progress: Development and Validation of an Ecological Momentary Assessment Tool to Enhance Psychiatric Symptoms, Monitoring and Intervention Response in Phelan-McDermid Syndrome", they address the need for better measurement

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00:33:42

Dr. João Peça - 2024 Translational Grant Awardee

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/05/28

In this episode, Dr. Lauren speaks with the winner of the 2024 Translational Grant Award, Dr. João Peça of the University of Coimbra in Portugal. Starting in the field of neuroscience and coming across SHANK3 before it was associated with Phelan-McDermid syndrome, Dr. Peça explains how his work sits at the crossroads of scientific curiosity and practical goals: Better understanding the brain alterations in Phelan-McDermid syndrome and searching for ways to improve them in patients. Dr. Peça helps

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00:40:57

From Awareness to Action: Advocacy That Makes a...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/05/08

Get ready to be inspired by impactful voices in advocacy! Join Dr. Lauren as she sits down with Katie Collins, Samantha von Felden, and Mark Vieth — three passionate advocates working on the front lines in Washington, D.C., fighting for the rights of individuals with rare diseases.In this episode, they share their insights, stories, and strategies for creating change where it matters most. Whether you're new to advocacy or you know a thing or two, their expertise is a true resource to all of us in

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00:32:50

Dr. Kristy Johnson - 2024 Grant Awardee for the PMSF...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/04/23

We are back with Part 2 of our interview with Dr. Kristy Johnson, winner of our 2024 PMSF Innovation Award! In this episode, you will hear about the specifics about her project titled "ROSCO: A Novel Virtual Natural Communication Paradigm for Individuals with PMS". After detailing all the challenges associated with available measures of language and communication in Part 1, Dr. Lauren dives in to learn how Dr. Kristy is using a novel tool to capture communication in individuals with

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00:28:48

Dr. Kristy Johnson - 2024 Grant Awardee for the PMSF...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/04/17

Have you ever felt discouraged filling out clinical measures about your child? Do you wish a language measure better captured your child's unique way of communicating? Then this podcast episode is for you! Trust me. In this episode of "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope", Dr. Lauren is talking to Dr. Kristy Johnson from Northeastern University, who received the 2024 PMSF Innovation Award for her project titled, "ROSCO: A Novel Virtual Natural Communication Paradigm for

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00:15:13

Dr. Milena Andzelm - 2023 Grand Awardee for the...

The Phelan-McDermid Podcast: Sharing Research,... ·

2025/03/06

Welcome back to "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope"This is our third and final episode from our mini-series featuring the 2023 PMSF Grant Awardees! On this episode, Dr. Lauren is talking to Dr. Milena Andzelm from Boston Children's Hospital. She received the Shannon O'Boyle Memorial Neuropsychiatric Illness Grant for her grant titled “Investigating Immune and Autoimmune Mechanisms of Neuropsychiatric Decompensation in Phelan-McDermid syndrome.Tune in

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