2022 Virtual Conference Video Recordings

Our 2022 We are Phamily Virtual Conference was truly a year of learning. You will find recorded videos for many of the sessions below. 

Meet the PMSF Scientific Advisory Committee

William Bennett, MD MS, Luigi Boccuto, MD, Thomas Bourgeron, PhD, Katy Phelan, PhD, Audrey Thurm, PhD, Chris Winrow, PhD

11/14/2022 – Chaired by Dr. Kate Still, PhD, PMSF Scientific Director, this international advisory group meets quarterly to share ideas and discuss progress in PMS research. 

Clinical Consensus Guidelines

Alex Kolevzon, MD, Siddharth Srivastava, MD

07/28/2022 – Dr. Kolevzon and Dr. Srivastava are longstanding clinicians and researchers in PMS. They will discuss the importance of the PMS Natural History Study.

Year End Progress on PMSF Scientific & Medical Intiatives

Kate Still, PhD

12/06/2022 -Dr. Kate Still,  provides updates on ongoing and future initiatives in 2023 in science and medicine. 

Clinical Trials in Phelan-McDermid Syndrome

Elizabeth Berry-Kravis, MD, PhD

08/23/2022 – Clinical trials in PMS have been steadily increasing in recent years. Included are will insights into ongoing clinical trials, and reasons for hope and for caution.

Understanding Gene Therapy

Guoping Feng, PhD, May Tobar, Dr. Dan Gallo

09/08/2022 – Dr. Gouping Feng, MIT professor and expert in SHANK3, Jaguar Gene Therapy Director of Patient Advocacy May Tobar and Vice President of Medical Affairs Dr. Dan Gallo discuss gene therapy.

Understanding Genetics in Phelan-McDermid Syndrome

Curtis Rogers, MD,Cat Valcourt-Pearce, MS,Thomas Bourgeron, PhD,Katy Phelan, PhD

03/31/2022 – Genetics is the basis for a PMS diagnosis and there are many complexities associated with this topic. 

PMS Research Initiative at Clemson University

Luigi Boccuto, MD, Sara Sarasua, PhD, Bridgette Allen, PhD

10/17/2022 – The Phelan-McDermid Syndrome Research Initiative (PMS-RI) at Clemson University is committed to exploring genotype-phenotype correlation in PMS.

Spotlight: Lymphedema in PMS: Sharing What We Know

Dana Winrow, PT, CLT-LANA

09/28/2022 – Sharing What We Know: Dana Winrow share some basic anatomy and physiology of lymphedema and how it presents in PMS including examples from PMS families.

Spotlight: Gastrointestinal Issues in Phelan-McDermid syndrome

William Bennett, MD MS, Julia Dallman, PhD

04/25/2022 – A very high percentage of people with PMS have gastrointestinal symptoms. PMSF is making a significant effort to increase research in this area. 

Spotlight: Neuropsychiatric Issues in PMS

Teresa M. Kohlenberg, MD

05/23/2022 – Neuropsychiatric illness begins around puberty in some individuals with PMS, and these individuals can have unusual responses to psychiatric medications. 

Spotlight: Epilepsy 101

Jimmy Holder, MD, PhD, & moderated by Heidi Grabenstatter, PhD

11/02/2022 – Dr. Holder has extensive expertise in epilepsy and will cover types of seizures in PMS, medical advancements, treatment options, and a discussion about seizures in the context of other symptom areas in PMS.

Spotlight: Understanding Sleep Disturbances in PMS.

Beth Malow, MD, MS

09/16/2022 – Dr. Beth Marlow shares her research and give practical advice to improve sleep for individuals with Phelan-McDermid Syndrome.

Nutrition for the Vulnerable Brain

Lance Clawson, MD

10/03/2022 – Dr. Clawson focuses on food and supplements with potential benefits for autism and Phelan-McDermid syndrome.

Nutrition & It's Crucial Role in Phelan-McDermid syndrome

Cara Dubinsky MS, RDN, CDN,Chardell Buchanan, MA, RDN

10/18/2022 –  An introduction to the basics of nutrition and its crucial role in PMS. The discussion will include a focus on healthy eating, essential vitamins and minerals, and ways to increase absorption. 

Medical Marijuana for Symptoms in Neurodevelopmental Disorders

Eric Marsh, MD, PhD

07/13/2022 – Dr. Marsh covers the history of medical marijuana for neurological disorders and what is known about how it works. 

IEP 101: Demystifying the Process

Carla D’Imperio, Michael D’Imperio

06/15/2022 – This session is presented by Carla D’Imperio, PMSF Family Support Specialist and her husband, Michael D’Imperio. During this session, participants will learn about the history of IEPs, including the laws that are involved. 

An Introduction to Autism BrainNet

Carolyn Komich Hare, M.S., CTBS, Alycia Halladay- Ross

11/09/2022 – Learn more about the planning process and the contribution to science that is realized with this most precious gesture. In the midst of grief and loss, ABN’s donor families report that they find a sense of hope and purpose in their loved one’s continued contribution to science.

FOUNDERS: The Reunion

Curtis Rogers, MD, Katy Phelan, PhD, Susan Lomas, and Nick Assendelft

Sept 2022 – PMSF founders come together to celebrate the 20-year anniversary of the Phelan-McDermid Syndrome Foundation. Panelists share their personal stories about their part in creating the PMSF and their hopes for the next 20 years.