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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

00:47:00

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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00:13:20

Dr. Bridgette Moffitt - 2023 Grand Awardee for the...

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

2025/02/20

We are back with "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope"! We continue our mini-series featuring the 2023 PMSF Grant Winners! In this episode, Lauren is talking to Dr. Bridgette Moffitt from Clemson University. Dr. Moffitt received the 2023 PMSF Innovation Award for her project titled, “Functional Assessment of Candidate Treatments for Phelan-McDermid Syndrome”. Tune in to hear about her research, which is setting the stage for precision, individualized medicine

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00:30:36

Dr. Julia Dallman - 2023 Grant Awardee for the PMSF...

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

2025/02/12

Our podcast is back! And with a new name chosen by you! "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope". In this episode, Dr. Lauren Schmitt, the Chief Science Officer of the Phelan-McDermid Syndrome Foundation (PMSF), restarts the podcast with the first of three interviews with our 2023 Grant Awardees. Lauren is joined by Dr. Julia Dallman, an Associate Professor at Miami University, whose project titled, “Validation of a Novel, Inexpensive, Home-Based Gastrointestinal

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00:31:39

Dr. Katy Phelan - The History of Phelan-McDermid...

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

2024/06/22

Kate chats with Dr. Katy Phelan, Scientific Advisor to the Foundation, namesake for the syndrome, and co-Founder of the Phelan-McDermid Syndrome Foundation (PMSF). They discuss her work identifying the first case of Phelan-McDermid syndrome, and the story behind her efforts to gather families. With the help of Co-founders Sue Lomas, Curtis Rogers and Nick Assendelft, this led to the establishment of a community, and ultimately the Foundation. Katy reflects on her favorite memories, her role now, and

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00:33:52

Ronni Blumenthal & Diane Linnehan - The 2024 PMSF...

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

2024/05/22

Kate is joined by PMSF leadership, CEO Ronni Blumenthal, and Sr. Director of Operations, Diane Linnehan, to bring you a special episode on all things 2024 Family Conference, coming up this July. They discuss all the exciting new things this year, and give a peek behind-the-scenes into the decision-making process at PMSF. They also discuss the conference agenda, keynote speaker, activities at the Mall of America, budget planning, strategies for getting the most out of the trip, and more. A special

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00:30:43

Dr. Luigi Boccuto - Understanding the impact of other...

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

2024/04/22

Kate engages Dr. Luigi Boccuto, Associate Professor at Clemson University, about his work studying genes other than SHANK3 and their impact in Phelan-McDermid syndrome. They highlight a recent publication authored by Dr. Boccuto, Dr. Andy Mitz, and Dr. Audrey Thurm, linked below. Dr. Boccuto describes how multiple genes in the 22q13 region, when altered, can have overlapping impacts on neurodevelopment. Understanding the importance of each of these genes can help improve the management and treatment

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00:22:12

Neuren Pharmaceuticals - Drug NNZ-2591 for...

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

2024/03/22

This month we feature three representatives from Neuren Pharmaceuticals to answer frequently asked questions about the recent Phase 2 clinical trial, and plans for a Phase 3. Larry Glass, Neuren’s Chief Science Officer provides an insightful breakdown of NNZ-2591, the drug that was being tested. Additionally, Liza Squires, Chief Medical Officer, and Nancy Jones, VP of Clinical Development, offer an overview of the safety, tolerability, and efficacy results. Important links: Phase 2 top line

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17 results

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