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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
Personalized Medicine
PMSF International Family Conference
Nnz-2591
Insulin-Like Growth Factor 1
Myelination
Nitric Oxide
Genetic Testing
Gastrointestinal Transit Testing
Natural Language Samples
Communication Development
Family Support
ROSCO
Gene Therapy Trials

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

PublishesTwice monthlyEpisodes30Founded3 years ago
Number of ListenersCategories
Life SciencesScience

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

Latest Episodes

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

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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

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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

YouTube

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 wo... more

YouTube

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Recent Guests

Dan Gallo
Key member involved in clinical development and medical affairs
Jaguar Gene Therapy
Episode: On the move: Jaguar Gene Therapy Updates
Kate Neer
Leader of corporate communications and patient advocacy
Jaguar Gene Therapy
Episode: On the move: Jaguar Gene Therapy Updates
Gina Newton
Leader of development operations
Jaguar Gene Therapy
Episode: On the move: Jaguar Gene Therapy Updates
Boaz Barak
Associate professor studying myelination in SHANK3 at Tel Aviv University.
Tel Aviv University
Episode: New Avenues in Phelan-McDermid Syndrome Research Featuring Drs. Boaz Barak and Haitham Amal
Haitham Amal
Associate professor at the Hebrew University of Jerusalem, working on nitric oxide in autism and Phelan-McDermid Syndrome.
Hebrew University of Jerusalem
Episode: New Avenues in Phelan-McDermid Syndrome Research Featuring Drs. Boaz Barak and Haitham Amal
Tess Levy
Assistant Professor of Psychiatry and Clinical Trials Manager at Seaver Autism Center at Mount Sinai
Seaver Autism Center, Mount Sinai
Episode: Dr. Pilar Trelles and Tess Levy - 2024 Shannon O'Boyle Memorial Neuropsychiatric Illness Awardees
Pilar Trelles
Child psychiatrist and Associate Chief of Outpatient Psychiatry Service at Boston Children's Hospital
Boston Children's Hospital
Episode: Dr. Pilar Trelles and Tess Levy - 2024 Shannon O'Boyle Memorial Neuropsychiatric Illness Awardees
Dr. João Peça
Assistant Professor at the University of Coimbra
University of Coimbra
Episode: Dr. João Peça - 2024 Translational Grant Awardee
Shannon Von Felten
Vice President of Advocacy from the EveryLife Foundation for Rare Diseases
EveryLife Foundation for Rare Diseases
Episode: From Awareness to Action: Advocacy That Makes a Difference

Host

Dr. Lauren Schmitt
Chief Science Officer, actively involved in research and advocacy related to Phelan-McDermid Syndrome, with a focus on translating scientific advancements into practical guidelines for affected families.

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?

The series offers insights into Phelan-McDermid Syndrome (PMS) through engaging discussions with leading experts in the field, making complex scientific and medical research accessible to listeners. Topics frequently cover advancements in genetic testing, neurodevelopmental conditions, and innovative therapies tailored for individuals affected by PMS. Personal anecdotes and advocacy for improved patient outcomes also play a significant role, reflecting a strong community focus on support, awareness, and empowerment. Noteworthy is the commitment to highlighting not just research, but practical applications and the real-life impact on families navigating these challenges, which sets it apart in the realm of medical discussions.

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2. The Deck
3. The Daily
4. Up First from NPR
5. Laugh Lines with Kim & Penn Holderness

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this podcast launched 3 years ago and published 30 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. Dan Gallo
2. Kate Neer
3. Gina Newton
4. Boaz Barak
5. Haitham Amal
6. Tess Levy
7. Pilar Trelles
8. Dr. João Peça

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