Convos with Dr. Kate

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 [email protected]

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: [email protected] or 203-216-9618

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