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

Latest Episodes:

Dr. Bridgette Moffitt - 2023 Grant Awardee for the PMSF Innovation Award Feb 20, 2025

Show notes

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 by testing candidate drugs on cell lines from actual individuals with Phelan-McDermid syndrome!

And don't forget to follow us to never miss an episode!

Dr. Julia Dallman - 2023 Grant Awardee for the PMSF Translational Research Award Feb 12, 2025

Show notes

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 Transit Test among People with Phelan-McDermid Syndrome” won the 2023 PMSF Translational Research Award. They discuss how Dr. Dallman got into the Phelan-McDermid syndrome field, how basic scientists can use zebra fish to study motility issues, and the latest on Julia's project! Plus, you'll have to tune in to know why they are talking about blue poop!

To find out more about Julia Dallman's lab and research: https://dallmanlab.weebly.com/

To hear more about the latest in GI research, check out Dr. Bennet, Still, and Dallman present at the 2024 PMSF Family Conference: https://youtu.be/IP4eaimpKM0?feature=shared

Have ideas for a future podcast? Email your recommendations to info@pmsf.org!

Dr. Katy Phelan - The History of Phelan-McDermid syndrome and the Foundation Jun 22, 2024

Show notes

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 describes the evolution of genetic understanding of Phelan-McDermid syndrome over the years.

2022 Founders presentation: https://www.youtube.com/watch?v=BpECSEFxuSc

Genetic testing guide in Phelan-McDermid syndrome: https://pmsf.org/diagnosis/

Ronni Blumenthal & Diane Linnehan - The 2024 PMSF International Family Conference May 22, 2024

Show notes

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 thank you to our presenting sponsor for the conference, Neuren Pharmaceuticals.

All details on the conference can be found here:

pmsf.org/conference

Dr. Luigi Boccuto - Understanding the impact of other genes beyond SHANK3 in Phelan-McDermid syndrome Apr 22, 2024

Show notes

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 of Phelan-McDermid syndrome long-term as clinical care moves more towards personalized medicine.

Publication link:

https://onlinelibrary.wiley.com/doi/10.1111/cge.14503

Neuren Pharmaceuticals - Drug NNZ-2591 for Phelan-McDermid syndrome Mar 22, 2024

Show notes

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 results:

https://pmsf.org/document/neuren-phase-2-trial-investor-presentation/?fbclid=IwAR2ytXd7HXVfjJ9hFxwUVlVgJvI_KkczBTpGJCNUOMLTzgUAI6lPy1ZZO9g

Phase 2 inclusion and exclusion criteria

https://clinicaltrials.gov/study/NCT05025241?cond=Phelan-mcdermid%20syndrome&term=NNZ-2591&rank=1#participation-criteria

Dr. Tony Persico - Clinical trial results of a metabolic support therapy in Phelan-McDermid syndrome Feb 22, 2024

Show notes

Kate chats with Dr. Tony Persico, an Italian clinician and researcher who recently ran a clinical trial testing metabolic support therapy for Phelan-McDermid syndrome. This therapy is an antioxidant/vitamin combination consisting of Coenzyme Q10, Vitamin E, and Polyvitamin B. They discuss the rationale, the study design, positive results, potential side effects, access for families, and next steps.

Learn more about the study here: https://www.oaepublish.com/articles/rdodj.2023.08

Dr. Tony Persico is an active member of the Italian Association for Phelan-McDermid syndrome and the Neuropsychiatric Consult Group.

Carla D’Imperio - A mental health support program for Phelan-McDermid syndrome caregivers Jan 22, 2024

Show notes

Kate interviews Carla D’Imperio, fellow PMSF staff member and Family Support Specialist, on a program she leads to support mental health for Phelan-McDermid syndrome caregivers. This program, called Caregiver Support Groups, was started last year with funding from Global Genes and is continuing into 2024. Carla explains the decision to start this program and the positive impact it has made in the community. She delves into the importance of having licensed professionals lead these sessions. And she describes which groupings are offered, how to sign up, and how the program is changing over time. International families are welcome to join and the program is free to families.

For more information or to sign up, see: https://pmsf.org/caregiver-support-groups/.

Dr. Christy Zigler - Measuring communication in neurodevelopmental disorders Dec 22, 2023

Show notes

Kate sits down with Dr. Zigler, Associate Professor at Duke University, to discuss her efforts to more accurately capture communication in Phelan-McDermid syndrome and other neurodevelopmental disorders. The goal is to have a clinical assessment that better measures communication progress - for families, and for clinical studies and trials. With funding from the FDA, Dr. Zigler is adapting a current communication measure, the ORCA. Kate asks what the ORCA is, why it is being adapted, what's been done so far, and how families can play a role.

Dr. Thomas Bourgeron - The importance of genetics research in Phelan-McDermid syndrome Nov 22, 2023

Show notes

Kate engages Dr. Thomas Bourgeron, genetics expert, PMSF Scientific Advisory Committee member, and longstanding researcher in Phelan-McDermid syndrome. They discuss the importance of studying genetics to better understand disorders like Phelan-McDermid and autism. Dr. Bourgeron explains that in the early 2000’s, his lab and others identified a link between the SHANK3 gene and the occurrence of autism. He then explains the scientific journey - from identifying a gene of interest, to testing therapeutics in lab models, and describes a current clinical trial for lithium ongoing in France. He also summarizes his top goals for future research in Phelan-McDermid syndrome.

A PMSF blog post on SHANK3 genetics: https://pmsf.org/shank3-in-phelan-mcdermid-syndrome/

A PMSF blog post on Phelan-McDermid syndrome versus autism: https://pmsf.org/phelan-mcdermid-syndrome-and-autism/

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