Schedule

Meet and greet reception. We’ll gather together to kick-off the 2025 Conference and have some informal ice breakers to help everyone get to know each other. Join us for appetizers and a champagne toast to celebrate our successful Together for PURA fundraising and awareness campaign. 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.

Complimentary Breakfast for Hotel Guests

This presentation will cover essential genetic concepts, how genes influence brain development, and how to read a genetic diagnosis report. It will also explain the different stages of scientific research-basic, translational, and clinical- to help you better understand where proposed studies fit in the journey from discovery to treatment. 

An overview of the comprehensive research roadmap developed by Odylia Therapeutics, a non-profit biotech organization, to help inform the PURA Syndrome Foundation’s future directions towards advancing research for PURA Syndrome. 

Hear about the PURA Syndrome Foundation’s progress on our strategic goals; including our research focus, 2025 Scientific Advisory Board, partnerships, and an update on the PURA registry.

Understanding the cellular and molecular pathways impaired in patients with PURA Syndrome is critical for developing targeted therapeutic strategies. Unlike more prevalent disorders, researchers face significant challenges in acquiring sufficient biological samples from individuals with rare diseases like PURA syndrome. The establishment of a dedicated PURA-biobank aims to overcome this limitation. It serves as centralized repository of biological samples from affected individuals.

To address this critical resource gap, our team at Helmholtz Munich collaborates with the PURA Syndrome Foundation to establish an ethics-approved biobank. This specialized repository centralizes high-quality biological specimens from genetically confirmed PURA cases worldwide. By collecting and preserving these rare biospecimens under standardized conditions, the biobank (i) enables mechanistic studies of dysregulated cellular pathways, (ii) helps to validate disease models, and (iii) supports the discovery of biomarkers to monitor the success of therapeutic strategies. This infrastructure directly supports translational research while creating a foundation for effective interventions, ultimately benefiting patients and their families.

The vast majority of disease-causing variants in the PURA gene lead to the full spectrum of neurological symptoms. We are analysing these symptoms over time by enrolling patients with PURA syndrome in our comprehensive new Developmental and Epileptic Encephalopathies Research (DEER) Natural History Study. We are also exploring milder phenotypes involving speech disorder by funding a clinical speech and communication study of individuals with PURA syndrome. To translate these clinical and genetic findings into testing of desperately needed new precision therapies we are (i) generating and biobanking
cell lines from patient skin biopsies and (ii) characterising a humanised pre-clinical mouse model of PURA syndrome with the most common gene variant reported in patients. These studies have already led to reported findings 1 that support PURA gene testing for families
with severe and mild disease symptoms including developmental delay, epilepsy and speech disorder.

Learn about Jack’s Tomorrow’s recent research advances and the pathways they’re exploring for a treatment.

This is your chance to Ask Anything directly to the people driving research on PURA Syndrome and the potential treatments for the issues associated with PURA. We want you to walk away from the conference feeling well informed on the types of research being done and treatments that are being explored, what we as a community need to do to be clinical trial ready, and the ways to get involved.

Seizures and epilepsy are a common complication of PURA Syndrome. Epilepsy associated with this syndrome can be difficult to diagnose and difficult to treat. In this session we will hear from epileptologist Dr. Rana Said about the diagnosis and management of seizures, with particular emphasis on our experience with epilepsy in PURA Syndrome and on potential management options.

While PURA syndrome is typically diagnosed for the first time when patients are neonates or young children; however, there have been several adult patients diagnosed with this condition. Caring for adult PURA syndrome patients is complex. This could be due to increased disease progression and deterioration in overall health status. In addition, transitioning care for children to adulthood is increasingly needed. This can pose many challenges such as gaps in care, increased emergency care visits, and reduced access to specialty care can also occur during this transition. As a result, as an adult metabolic geneticist, I have reviewed current literatures regarding diagnostic and management of adult patients with PURA. I hope this information will help parents and pediatricians caring PURA syndrome patients familiarize and help improve care when patients reach adulthood.

This is your chance to Ask Anything to doctors currently treating and managing care for people with PURA.

PURA Germany, PURA Australia, PURA Poland

Building a strong partnership between school and home is essential for the success of students. This panel will explore strategies and best practices for fostering effective communication and collaboration between educators, families, and caregivers.  By promoting a holistic approach to education, this session aims to empower families and school staff to work together in a way that nurtures the academic, social, and emotional growth of students. This session will also provide information on the requirements of public schools when providing services to children with complex educational and medical needs.

This parent panel brings together caregivers of individuals with PURA Syndrome, spanning various ages and life stages, to participate in an open “Ask Anything” discussion tailored to other PURA Syndrome parents. Panelists will share insights from their journeys, addressing topics such as early diagnosis, developmental milestones, communication strategies (including augmentative and alternative communication methods), epilepsy management, and transitioning through childhood, adolescence, and adulthood. By encompassing diverse perspectives from parents of infants to adults with PURA Syndrome, this panel seeks to empower families with knowledge, hope, and connection, reinforcing resilience in navigating this rare condition.