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 matters

• How families helped shape new research by contributing to the DEE Parent Speak Survey

• Key findings on quality of life, including the importance of communication, cognitive skills, and touchscreen use

• What “clinical meaningfulness” really means—and why small changes can have a big impact

• How this research is informing clinical trial readiness and future interventions

• What’s next for the Inchstone team, including a follow-up longitudinal study

PMS families made up nearly 20% of the study sample! Thank you for helping move science forward.

Recorded: July 22, 2025

Aired: January 21, 2026

Updates since being recorded

• Dr. 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

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.

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=shared

Check out the updated FAQs for further information about the ongoing JAG201 gene therapy trial: https://drive.google.com/file/d/1QUfuSUQQ9ozOI2eIloRPbmJJw929l-wO/view?usp=sharing

Learn more about Jaguar Gene Therapy: https://jaguargenetherapy.com/

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/researchgrants

Check out the link to our grant opportunities for researchers: https://pmsf.org/for-researchers/funding-opportunities/

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/

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 was recently awarded Autism Science Foundation's Profound Autism Pilot Grants! Read more here: https://autismsciencefoundation.org/asf-funded-research/

Dr. Amal explains why nitric oxide (NO) is important for brain functioning and how NO is linked to autism as well as Phelan-McDermid Syndrome. He also describes his ongoing work with the two companies that he co-founded, NeuroNOS and Point6 Bio. NeurNOS's lead investigational therapy, BA-102, for the treatment of Phelan-McDermid Syndrome (PMS) just received Orphan Drug status from the FDA! Learn more here: https://www.neuro-nos.com/oddpms

Don't forget to subscribe wherever you get your podcasts to discover groundbreaking research uncovering new paths in understanding and treating Phelan-McDermid Syndrome — hope and progress are on the horizon!

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 tools of neuropsychiatric symptoms in Phelan-McDermid syndrome as well as the importance of involving caregivers and medical experts in the process of developing measures. Tune in to hear more about the measure and why it's so needed!

Interested in participating in their study and filling out the updated measure? Act fast! They are collecting data for a only a few more days! You can participate here: https://redcap.link/014yntw7

Tune in now, and don't forget to subscribe to this podcast so you never miss an episode!

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 explain his research project in an accessible way for all listeners! So tune in to hear how Dr. Peça's work is hoping to open new avenues in therapeutics for Phelan-McDermid syndrome!

With the help of the 2024 Translational Grant, his project along with our other PMSF-funded grants pave the way for early support that researchers need to explore bold ideas, generate data, and build the foundation for larger projects!

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 the Phelan-McDermid syndrome Community.

Tune in now and hear how these changemakers are using their voices to elevate ours.

And if you are interested in starting your advocacy journey, check out the link in bio/comments to sign up for Rare Across America, which sets up virtual meetings with Senate offices and in-person in-district meetings with Representative offices from August 4-15, 2025!

www.RareAcrossAmerica.org

Last, we want to thank all our advocacy partners who are keeping us updated and informed. Check out the organizations below and maybe even sign-up for their emails!

• EveryLife Foundation 

• National Organization for Rare Disorders (NORD)

• National Down Syndrome Congress

• The Arc

• Genetic Alliance

• Global Genes

• Rare Epilepsy Network

• Child Neurology Foundation
  

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 Phelan-McDermid syndrome! This novel tool is ALL home-based and hones in the unique ways each individual communicates.

And if you haven't tuned into Part 1 yet, we HIGHLY recommend starting there!

Interested in participating in ROSCO?

Email [email protected] to learn more about the study.

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