Schedule

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

State of the Foundation/Town Hall

A discussion on Sudden Unexpected Death in Epilepsy (SUDEP) and reducing your risks, including the use of seizure detection devices.

Complimentary Breakfast for Hotel Guests

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.

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.

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.

Complimentary Breakfast for Hotel Guests