by PURA Syndrome Foundation | Jun 20, 2024 | Annual Conference
Dr. Pons will speak at the conference about the work being done at Jackson Laboratories to create mouse models for PURA Syndrome researchers. In-person registration: https://purasyndrome.networkforgood.com/…/65425-2024… Virtual registration:...
by PURA Syndrome Foundation | Jun 20, 2024 | Annual Conference
Jean and Kyle will be at the conference this year to share their experiences as parents and Co-Founders of Jack’s Tomorrow, including the recent research projects they have been funding to understand the disease and bringing us closer to a treatment and a cure for...
by PURA Syndrome Foundation | Jun 20, 2024 | Annual Conference
Dr. Jiang is a physician scientist, active practicing physician at Yale Children’s Hospital and Yale Hospital and Director of Yale National Organization of Rare Disease Center of Excellence for Rare Diseases. Jiang’s research program focuses on to investigate...
by PURA Syndrome Foundation | Jun 19, 2024 | Annual Conference
Dr. Janowski will share the team at Helmholtz’s recently published findings that 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 their lab...
by PURA Syndrome Foundation | Jun 18, 2024 | Annual Conference
Dr. Dengle Sanchez brings a unique perspective to this year’s conference with her combination of experience with PURA Syndrome from a physician’s and a parent’s perspective. We are excited to have her participating in our Clinician Q&A Panel. In-person...
by PURA Syndrome Foundation | Jun 18, 2024 | Annual Conference
Dr. Hunt co-authored several peer-reviewed articles about PURA syndrome, including one of the first two papers characterising PURA Syndrome in October 2014. He will speak at the conference about how far we’ve come over the last 10 years, as well as, join our...
by PURA Syndrome Foundation | Jun 11, 2024 | Research
Do you need help completing your PURA Patient Registry? We are excited to announce that we are now offering confidential, one-on-one appointments with our research nurse, Tessy or PURA Aunt and Retired Nurse, Lyn. They can offer assistance with navigating the modules...
by PURA Syndrome Foundation | Jun 10, 2024 | News
We are pleased to announce the release of our 2023 Annual Report! We are grateful for each of you who continue to support us in furthering our mission to drive research, raise awareness in the general community, as well as connect, educate, serve and empower families...
by PURA Syndrome Foundation | Jun 10, 2024 | Awareness, Resources
We’re excited to share that we’ve joined the Rare Epilepsy Network, a consortium of rare disorders working together on epilepsy research, advocacy and drug development.We hope this partnership will help connect our community with the latest research in...
by PURA Syndrome Foundation | May 18, 2024 | Annual Conference
Reminder to get your submissions in for the conference program by Monday, May 20! This is a great way to support the conference while showing off the PURA Perfect person in your life. You can include photos and a message that will be featured in the printed and online...
