Snap25 Foundation - public

07/25/2025

SNAP25 - DEE is now updated accurately on NORD's site. Also accurately reported on OMIM. Both listings will help more people with our disease to get accurately diagnosed. A big thank you to NORD, SNAP25 Foundation President Elizabeth Dellureficio, and Zoe Powis, CGC and SNAP25 scientific board member, for your hard work and dedication in making this happen.

Learn about SNAP25 Developmental and Epileptic Encephalopathy (SNAP25-DEE), including symptoms, causes, and treatments. If you or a loved one is affected by

02/09/2025

SO EXCITED to announce that SNAP25 and RARE - X will be joining forces to create our first ever data collection program! This information that parents will relay will be invaluable to clinicians and researchers. See our website for more information on how to take part.

02/09/2025

Snap25 Foundation's President and Founder Elizabeth Dellureficio was thrilled to be part of the Rare Advocate Development Workshop held in NYC last week. Hosted by Global Genes, the Rare Epilepsy Network and Mahzi Therapeutics,
alongside 25 other Rare Disease Organizations, the group learned about drug development, gene therapy, clinical trial design and endpoints, etc. Foundations, clnicians, researchers, scientists, lab representatives, Pharma companies and others all working together towards advancing treatments for Rare Epilepsy Diseases.

04/07/2024

The SNAP25 Foundation is delighted to welcome Dr. Jacqueline Burré to our scientific advisory board! Dr. Burré is an extremely kind and brilliant scientist. She is an Associate Professor of Neuroscience at the Helen and Robert Appel Alzheimer’s Disease Institute and the Feil Family Brain and Mind Research Institute at Weill Cornell Medicine. She obtained her doctorate degree in biochemistry from Goethe University in Germany, where she studied the composition of synaptic vesicles. As a postdoctoral fellow at UT Southwestern Medical Center and then Stanford University, Dr. Burré pursued her interests in neuronal communication with Nobel Laureate Tom Südhof, focusing on the role of α-synuclein in normal brain function and in Parkinson’s disease. In her own laboratory, she continues the functional studies of synucleins and has expanded her focus on SNAREopathies caused by mutations in VAMP2, SNAP-25 and STXBP1. The ultimate goal in her lab is to understand molecular mechanisms underlying these diseases, and to use this knowledge as a basis for designing therapeutic strategies.

We are so honored to work with Dr. Burré!

02/29/2024

Today is Rare disease day!

Snap25 Foundation - public supports researchers, caretakers and of course the super heroes with rare diseases.

Together for a better future

❤️

11/28/2023

This Giving Tuesday please consider supporting our cause 💜🌈🌟😍

Research: to accelerate research to cure Snap25 disorders

Awareness: to spread awareness of Snap25

Community: to provide families with knowledge and a supportive community

Snap25 Foundation is a 501(c)3 tax-exempt organization and your donation is tax-deductible within the guidelines of U.S. law.

11/21/2023

For two days Snap25 Foundation's vice president participated in NorEpiNet2023 "From genes to therapy" to advocate for our patient group, network with researchers and neurologists and to spread the word about our foundation.

It was a great success!

10/16/2023

New paper out from Jakob Sorensen's group, detailing three mutations in Snap25. Thank you Anna Kadkova and Dr. Sorensen for your continuing efforts to help charaterize SNAP25.

SNAP25 is one of three neuronal SNAREs driving synaptic vesicle exocytosis. We studied three mutations in SNAP25 that cause epileptic encephalopathy: V48F, and D166Y in the Synaptotagmin-1 (Syt1) binding interface, and I67N, which destabilizes the SNARE-complex. All three mutations reduced Syt1-depe...

02/08/2023

Meet Sara, Vice president of Snap25 Foundation - public

I am Sara and I live in Sweden with my husband, son and daughter.

I am passionate about making a difference and when the opportunity to join as a board member in the Snap25 Foundation I did not hesitate. Being a Snap25 parent may not be easy but I will for sure never give up!

I believe in my heart that what one person does can make a great difference for many others.

Loving kindness along with faith in science is what keeps me going. Thank you for supporting our cause!