PURA Syndrome 2024 Conference | June 21–23

Over 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!

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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. 

PURA Community Update – Jack’s Tomorrow

Jean Weinberg & Kyle Czepiel

Research at Yale to Identify Molecular Therapies for PURA Syndrome

Dr. Yong-Hui Jiang

Unlocking Voices: Empowering Early Communicators through AAC

Anna Ware, M.S., CCC-SLP

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 

Dr. David Hunt

How do we know a genetic variation causes PURA Syndrome?

Dr. Robert Janowski

Dr. Janowski will share their upcoming publication in the prestigious eLife journal. Their findings, already accessible here:

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

Dr. Vincent Pons

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

PURA Resource Updates and 
Sibling Q & A with Chrissie & Emma