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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
Natural History Study
Nnz-2591
Insulin-Like Growth Factor 1
Nitric Oxide
Myelination
Genetic Testing
Gastrointestinal Transit Testing
Natural Language Samples
Communication Development
Family Support
ROSCO

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

PublishesMonthlyEpisodes31Founded3 years ago
Number of ListenersCategories
Life SciencesScience

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

Latest Episodes

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

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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

YouTube

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

YouTube

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

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Recent Guests

Audrey Thurm
Clinical psychologist involved in the Natural History Study at NIH.
National Institutes of Health
Episode: Behavior, Cognition, and Beyond: Updates from the PMS Natural History Study with Drs. Audrey Thurm and Latha Soorya
Latha Soorya
Clinical psychologist and associate professor at Rush University Medical Center.
Rush University Medical Center
Episode: Behavior, Cognition, and Beyond: Updates from the PMS Natural History Study with Drs. Audrey Thurm and Latha Soorya
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

Host

Dr. Lauren Schmitt
Chief Science Officer of the Phelan-McDermid Syndrome Foundation, engaging with experts in this rare genetic condition to share insights about ongoing research and advancements.

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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?

Focusing on the most pressing issues surrounding Phelan-McDermid syndrome, this series features insights from leading experts in the field of gene therapy, clinical trials, and neuropsychiatric research. Key topics such as the development of innovative gene therapies, understanding the complex diagnostic journey for affected individuals, and the integration of community-driven research are consistently addressed. Additionally, the podcast emphasizes the vital connection between research advancements and their real-world impact on families dealing with rare genetic conditions. Overall, these informative discussions aim to empower the audience with knowledge and foster a sense of community among listeners.

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this podcast launched 3 years ago and published 31 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. Audrey Thurm
2. Latha Soorya
3. Dan Gallo
4. Kate Neer
5. Gina Newton
6. Boaz Barak
7. Haitham Amal
8. Tess Levy

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