2024 Support Drive, could you help?

This year, we are funding four projects worth almost $400,000.
Please donate today to support our community. Your gift will make a significant difference and help us achieve our goal.
For More Information: https://thesnowfoundation.org/2024-support-drive-could-you-help/

 

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Join the virtual conference The Snow Foundation and Wolfram Syndrome UK will host on April 13th.The conference will feature four presentations starting at 2:00 pm (BST). Details about the program and registration links will be forthcoming. This bi-annual event aims to educate everyone about the latest research on Wolfram Syndrome.

The Snow Foundation is grateful for the support it has received from people around the world. We would like to express our appreciation to Markus Klasenar for putting us on the map in Germany. Thanks to their fundraising efforts, we have raised 2,650 euros for our Quest for A Cure!

Mark your calendar! Dr. Fumihiko Urano to Present on Rare Disease Day at NIH 2024

Dr. Urano received an invitation to present his research on Wolfram Syndrome at the Rare Disease Day event held at the National Institutes of Health on February 29, at 2:20 Eastern Time. This event is widely regarded as one of the most prestigious gatherings for rare diseases, offering an excellent platform for us to raise awareness about Wolfram Syndrome. You can participate by watching his presentation remotely. The link to access it: https://ncats.nih.gov/news-events/events/rdd

The true power of giving is the ability of our supporters to leverage their own personal networks. Help us raise $5,000 this month for Rare Disease Day, February 29th. Donate online

Rare Disease Day is February 29th. Please help the Snow Foundation raise some awareness and funding.  Our goal is to raise $5,000 this month.  Please share and start your fundraiser on Facebook today, donate online

Publication: ncbi.nlm.nih.gov | Publication Date: September 30, 2014

Authors: Zatyka, M., Da Silva Xavier, G., Bellomo, E. A., Leadbeater, W., Astuti, D., Smith, J., Michelangeli, F., Rutter, G. A., & Barrett, T. G.

Abstract

Wolfram syndrome is an autosomal recessive disorder characterized by neurodegeneration and diabetes mellitus. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER)-resident transmembrane protein that is involved in the regulation of the unfolded protein response (UPR), intracellular ion homeostasis, cyclic adenosine monophosphate production and regulation of insulin biosynthesis and secretion. Read more

Publication: jbc.org | Publication Date: December 2003

Authors: Abdullah A. Osman, Mitsuyoshi Saito, Carol Makepeace, M. Alan Permutt, Paul Schlesinger, Mike Mueckler

Wolfram syndrome is an autosomal recessive neuro-degenerative disorder associated with juvenile onset non-autoimmune diabetes mellitus and progressive optic atrophy. The disease has been attributed to mutations in the WFS1 gene, which codes for a protein predicted to possess 9–10 transmembrane segments. Little is known concerning the function of the WFS1 protein (wolframin). Read more