Convos with Dr. Kate

How do we measure meaningful progress in individuals with Phelan-McDermid syndrome, especially when traditional developmental assessments often miss important milestones? How do we capture meaningful change in clinical trials, especially when traditional measures are not sensitive enough to things that actually matter to our families? To help answer these questions, Dr. Lauren welcomes Dr. Natasha...

What is the PMS DataHub? And why does participation matter? In this episode of the Phelan-McDermid Syndrome Podcast, Dr. Lauren is joined by Kathy Fiscus, PMSF Data Manager and co-principal investigator of the PMS DataHub, to explain how this important resource supports both families and Phelan-McDermid syndrome research. Kathy breaks down the difference between the current PMS DataHub and the leg...

In this episode of the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope , Lauren is joined by Dan Gallo , Executive Vice President and Head of Clinical Development and Medical Affairs at Jaguar Gene Therapy, and Tessa Clarkson , Clinical Development Consultant at Jaguar Gene Therapy. They discuss Jaguar’s Developmental Milestone Survey , a study designed to better understand...

In this episode of the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope , Dr. Lauren talks with Dr. Michael Long of NYU Langone , a neuroscientist studying the brain circuits that make vocal communication possible. This episode is a fascinating look at an unconventional approach to one of the Phelan-McDermid syndrome community's highest research priorities: communication...

What do PMSF's relationships with pharmaceutical companies and other industry companies really mean for families? In this episode, Dr. Lauren Schmitt, Chief Science Officer, and Amanda Bergen, Director of Communications, take you behind the scenes to discuss how PMSF builds meaningful relationships with industry while keeping the voices of individuals with Phelan-McDermid syndrome and their fa...

Sensitive Content Notice: This episode discusses brain donation and postmortem tissue research.  Our goal at PMSF is to provide clear, transparent information so families can better understand all areas of research. While we approach this sensitive topic with care and compassion, we recognize this episode may not be suitable for everyone.  In this episode, Dr. Lauren speaks with Dr. Alyicia Hallad...

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, clinic...

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 be...

This episode's guest: Dr. Jonathan Santoro, MD Pediatric Neurologist & NeuroimmunologistChildren’s Hospital Los Angeles (CHLA)2025 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant Awardee Overview: 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 o...

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 (P...

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 mak...

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, describ...

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 Ill...

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 del...

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. H...

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 In...

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 alter...

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. Whethe...

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 di...

Have you ever felt discouraged filling out clinical measures about your child? Do you wish a language measure better captured your child's unique way of communicating? Then this podcast episode is for you! Trust me. In this episode of "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope", Dr. Lauren is talking to Dr. Kristy Johnson from Northeastern University, who received the 2024...

Welcome back to "The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope" This is our third and final episode from our mini-series featuring the 2023 PMSF Grant Awardees! On this episode, Dr. Lauren is talking to Dr. Milena Andzelm from Boston Children's Hospital. She received the Shannon O'Boyle Memorial Neuropsychiatric Illness Grant for her grant titled “Investigating Immune and Autoi...

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 i...

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 a...

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...

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 M...