Schedule
PURA Syndrome 2024 Conference | June 21–23Over the conference weekend, we’ll engage in a lot of discussions and have opportunities to ask important questions. We’ll draw on the collective experience and insights of our scientists and families through open dialogue. We’ll have open and important conversations, learn from the experts and each other and uncover the inspiring people who are part of our community.
All times listed are in Central Daylight Time (CDT) below, but please check your local time zone to the time listed to be sure you have the correct time. Schedule is subject to change. Click on the speaker’s name to see their bio!
Friday, June 21, 2024
Welcome and Opening Session
Liz Astridge &
Eva Tucker
State of the Foundation/Town Hall
Protecting People Living with Epilepsy
Mary Duffy, Danny Did Foundation
A discussion on Sudden Unexpected Death in Epilepsy (SUDEP) and reducing your risks, including the use of seizure detection devices.
Saturday, June 22, 2024
Welcome and 10 Years of PURA Syndrome
Dr. David Hunt
Partnering with a Developmental and Behavioral Pediatrician (Begins at 34:20)
Dr. James Weedon
Learn about the specialty of Developmental and Behavioral Pediatrics – a scarce but important provider bridge between the medical, therapy, and educational worlds.
Pediatric Epilepsy: Diagnosis, Risk and Treatment (Begins at 53:14)
Dr. Douglas Nordli
This session will focus on pediatric epilepsy, reviewing seizure types and epilepsy syndromes as a cornerstone.
Clinician Q & A Panel (Begins at 1:19:30)
Dr. David Hunt
Dr. Douglas Nordli
Dr. Lauren Dengle Sanchez
Dr. James Weedon
Research at Yale to Identify Molecular Therapies for PURA Syndrome
Unlocking Voices: Empowering Early Communicators through AAC
A comprehensive course designed to support families of individuals with PURA syndrome in initiating and facilitating communication using Augmentative and Alternative Communication (AAC) methods.
PURA Global Patient Registry & Biobank Update
How do we know a genetic variation causes PURA Syndrome?
Dr. Janowski will share their upcoming publication in the prestigious eLife journal. Their findings, already accessible here: https://elifesciences.org/reviewed-preprints/93561
A Multi-Organism Screening Pipeline to find treatment for PURA Syndrome
Peter MacDonald
In an effort to find treatment for PURA Syndrome Peter has been developing a drug screening pipeline using C. elegans and zebrafish as disease models.
Jackson Laboratory
Sunday, June 23, 2024
Oxygen Mask Session
Eva Tucker
This session was not live streamed or recorded
All About Service Dogs
Kristin Hartness, Executive Director