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The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope: Daily Summaries Delivered
by Phelan-McDermid Syndrome Foundation
Listen along for the most current updates in science and medicine from the Phelan-McDermid Syndrome Foundation (PMSF). Every month, Scientific Director Dr. Kate Still interviews an expert involved in a current research program. These conversations are informal and less than 30 minutes. Perfect for listening on the go!
Latest Episodes
The most recent episodes — sign up to get AI-powered summaries of each one.
- May 7, 202625 min
Countdown to the Conference - The Climb We Make Together
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 syndrome.We discuss:What to expect from this year’s conference programmingThe three core pillars: Connect (Basecamp), Care (Ascent), and Cure (Summit)New structure of "Deep Dive" sessions on GI issues, loss of skills/regression, and neuropsychiatric illnessConnection to Pathways, like pre-conference family focus groups and post-conference follow-upExpanded support for families, including travel assistance, sibling programming, and one-on-one expert consultationsWhy attending in person can be such a meaningful and transformative experienceWith nearly 700 attendees expected, this conference offers a unique opportunity to connect, learn, and make the climb—together.Learn more about the conference and direct links to register here: https://pmsf.org/2026-conference/ You can also reach out directly at conference@pmsf.org
- Apr 30, 202632 min
A Cross-Species Approach to Advancing Research in Phelan-McDermid Syndrome with Dr. Ben Scott and Amanda Fath
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 syndrome . Their short, engaging computer-based game (“Asteroids”) is more accessible to individuals with Phelan-McDermid syndrome. And the researchers remind us why "All data is good data".This work aims to bridge a long-standing gap between animal models and human experience through computational models that connect behavior to underlying brain circuits. Ultimately, this work is aimed at improving how discoveries translate into meaningful treatments.Research Participation Opportunity!The research team is currently recruiting individuals with Phelan-McDermid syndrome:Eligibility: 11–21 years old diagnosed with Phelan-McDermid syndrome; Able to use a touchscreen device or mouse; Do not have a seizure disorder or history of seizures that could be triggered by flashesFormat: Fully virtual Time commitment: 20-40 minutesIf you’re unsure whether your loved one can participate—reach out. Even partial participation provides valuable data.If interested in enrolling, or for more information, contact: geode.online.experiment@gmail.com or 203-216-9618
- Feb 11, 202615 min
Dr. Jonathan Santoro - 2025 Shannon O'Boyle Memorial Neuropsychiatric Illness Awardee
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 is turning its attention to Phelan-McDermid syndrome (PMS).Dr. Santoro’s PMSF-funded project, “Diagnostic Biomarkers in Phelan-McDermid Syndrome-Associated Neuropsychiatric Disease,” uses tests that are already part of standard clinical care (like EEGs, MRIs, blood work, and lumbar punctures), the team will look for biological “signatures”, or biomarkers, to help lead to better diagnosis, earlier detection, and more targeted treatments for individuals with Phelan-McDermid syndrome who experience neuropsychiatric illness.His study is currently enrolling (February 2026)Check out our open studies page for more information: https://pmsf.org/current-open-research/
- Jan 21, 202645 min
Every Inch Counts: Updates on the Inchstone Project with Drs. Natasha Ludwig and Jenny Downs
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 contributing to the DEE Parent Speak SurveyKey findings on quality of life, including the importance of communication, cognitive skills, and touchscreen useWhat “clinical meaningfulness” really means—and why small changes can have a big impactHow this research is informing clinical trial readiness and future interventionsWhat’s next for the Inchstone team, including a follow-up longitudinal studyPMS families made up nearly 20% of the study sample! Thank you for helping move science forward.Recorded: July 22, 2025Aired: January 21, 2026Updates since being recordedDr. Ludwig is a confirmed speaker at the 2026 PMSF Family Conference!The paper on quality of life is published! Check it out here: https://link.springer.com/article/10.1007/s11136-025-04153-0
- Dec 3, 202547 min
Behavior, Cognition, and Beyond: Updates from the PMS Natural History Study with Drs. Audrey Thurm and Latha Soorya
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.
- Sep 18, 202552 min
On the move: Jaguar Gene Therapy Updates
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 learn more about the NHS: https://pmsf.org/current-open-research/Check out our previous webinar on the NHS: https://youtu.be/pOzTf3qnNmk?feature=sharedCheck out the updated FAQs for further information about the ongoing JAG201 gene therapy trial: https://drive.google.com/file/d/1QUfuSUQQ9ozOI2eIloRPbmJJw929l-wO/view?usp=sharingLearn more about Jaguar Gene Therapy: https://jaguargenetherapy.com/
- Sep 2, 202548 min
Driving Research Breakthroughs: Megan O’Boyle Shares Her Story
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 Breakthroughs, and what it means for the future of research, treatments, and cures.Check out the link to our Driving Research Breakthroughs campaign: https://secure.qgiv.com/for/researchgrantsCheck out the link to our grant opportunities for researchers: https://pmsf.org/for-researchers/funding-opportunities/
- Aug 6, 202534 min
The Diagnostic Odyssey: Delays in Diagnosing Phelan-McDermid Syndrome
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 years!Of individuals who receive a genetic diagnosis due to neurodevelopmental concerns, approximately 90% see improvement in their treatment management and care after receiving the diagnosis! Tune in to hear more about the research behind the delayed diagnosis of rare genetic disorders like Phelan-McDermid syndrome, and what each is doing to help reduce this delay and increase access to genetic testing! Check out the papers mentioned in the podcast below to learn more: Dr. Sheldon Garrison: https://pubmed.ncbi.nlm.nih.gov/40750893/ https://pubmed.ncbi.nlm.nih.gov/40252994/Dr. Ame Shillington: https://pubmed.ncbi.nlm.nih.gov/37642312/ https://pubmed.ncbi.nlm.nih.gov/35769998/
About The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope
Listen along for the most current updates in science and medicine from the Phelan-McDermid Syndrome Foundation (PMSF). Every month, Scientific Director Dr. Kate Still interviews an expert involved in a current research program. These conversations are informal and less than 30 minutes. Perfect for listening on the go!
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