Schedule

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!

Submit a Question - Coming Soon!

Friday, June 21, 2024

11:00 AM – 5:00 PM CDT

Visit the Abilities Expo

The PURA Conference is taking place the same weekend as the Abilities Expo. It may be something you want to check out while you are here as it is within walking distance to our conference hotel. The Chicago Abilities Expo will have products and technology to view and demo, as well as workshops to attend, or simply connect with others in the disability community. It’s free but you will need to register if plan to attend. Register here: https://www.abilities.com/chicago/e.html

3:00-5:00 PM CDT

Registration and Meet & Greet

5:00-5:45 PM CDT

Welcome and Opening Session

Liz Astridge &
Eva Tucker

 

State of the Foundation/Town Hall

5:45-6:15 PM CDT

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.

6:00-6:30 PM CDT

Reception

Atrium Bar

Casual Meet and Greet at the Atrium Bar: Attendees with accommodations at Embassy Suites will receive 2 complimentary drink tickets per room (Valid from 5:30 – 7:30 pm…after 7:30 it will be a cash bar). Cash bar for those not staying at the hotel. 

6:30-8:30 PM CDT

Dinner with Kid Friendly Foods, PURA Community Social Time

Saturday, June 22, 2024

7:00-8:30 AM CDT

Breakfast

Complimentary Breakfast for Hotel Guests

9:00-9:30 AM CDT

Welcome and 10 Years of PURA Syndrome

Dr. David Hunt

9:30 AM – 9:55 AM CDT

Partnering with a Developmental and Behavioral Pediatrician

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. Dr. Weedon will discuss how to partner with your providers and advocate for understanding the needs of your child across settings and developmental domains. He will discuss the complexities of children with PURA and diagnosis of comorbid conditions such as intellectual disability, autism spectrum disorder, ADHD, communication disorders, and learning challenges. Lastly, he will explore the concepts of health and wellness for children with chronic medical conditions.

9:55 AM – 10:20 AM CDT

Pediatric Epilepsy

Dr. Douglas Nordli

This session will focus on pediatric epilepsy, reviewing seizure types and epilepsy syndromes as a cornerstone. The talk will cover the typical diagnostic approach used by pediatric epileptologists, and will then briefly discuss some of the risks associated with epilepsy. Current treatment options will be discussed and the session will conclude with some remarks about future therapeutic directions.

10:20 AM – 11:30 AM CDT
11:30 – 11:45 AM CDT

PURA Community Update – Jack’s Tomorrow

Jean Weinberg
& Kyle Czepiel

Jack’s Tomorrow’s mission is to fund research to develop a treatment for PURA Syndrome.

11:45 AM – 12:15 PM CDT

Research at Yale to Identify Molecular Therapies for PURA Syndrome

Dr. Yong-Hui Jiang

12:30-1:30 PM CDT

Lunch

1:30-2:00 PM CDT

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. This course provides an understanding of AAC competencies and strategies tailored specifically for early communicators. Information provided will allow access to free resources and evidence based strategies to begin implementing AAC immediately or even enhance established systems. This course is taught by Anna Ware MS, CCC/SLP who has 15 years of specializing in AAC across the lifespan and specifically working with two clients with PURA syndrome in the Chicagoland area.

2:00 – 2:15 PM CDT

Break

2:15 – 2:30 PM CDT

Global Research Network (GRN) Update

Prof. Matt Guille, Chair and Coordinator (Virtual Presenter)

In this video, Prof. Matthew Guille, Chair and Coordinator of our Global Research Network, will give an update as to what our Researchers have been working on since they last met in 2023.

2:30 – 3:00 PM CDT

PURA Global Patient Registry & Biobank Update 

Dr. David Hunt

3:00 – 3:30 PM CDT

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: https://elifesciences.org/reviewed-preprints/93561, reveal the details of structural and functional analysis of the PURA protein and its selected variants implicated in PURA Syndrome. He will present the methods employed in our lab to decipher how these genetic variations impact both structural integrity and functional dynamics of PURA.

3:30 – 3:45 PM CDT

Break

3:45 – 4:15 PM CDT

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. The idea is to test existing FDA approved drugs for therapeutic benefits in the PURA syndrome disease context. Repurposing an already approved drug will sidestep the time and cost required for developing a custom therapy, bringing treatment to patients that much sooner. C. elegans and zebrafish are well established organisms in the field of genetic disease research. In this talk, Peter will discuss how he leveraged them for screening and show his preliminary results.

4:15 – 4:45 PM CDT

PURA Community Updates

5:00 PM CDT

Brief closing for the day

6:30-8:00 PM CDT

Reception & Dinner

Sunday, June 23, 2024

8:00-9:00 AM CDT

Breakfast

Complimentary Breakfast for Hotel Guests

9:00 AM – 10:00 AM CDT

Oxygen Mask Session

Eva Tucker

10:15 – 10:45 AM CDT

All About Service Dogs

Kristin Hartness, Executive Director

10:45 – 11:30 AM CDT

PURA Resource Updates

12:00-1:00 PM CDT

Closing Lunch