8th International Wolfram Symposium Presentation Prof Gil Leibowitz – President of the Israel Endocrine Society (IES), Hadassah Medical center, the Hebrew University, Jerusalem, Israel.  Pathophysiology and treatment of type 2 Wolfram syndrome. Abstract: Type 2 Wolfram syndrome results from a missense mutation in the CISD2 gene, encoding NAF-1, which transfers Fe-S clusters from the mitochondria […]

8th International Wolfram Symposium Presentation Dra. Gema Esteban- Bueno, Dr. Juan R. Coca, Dr. Nicolas Fernández-Fernández, Leticia Fernandez Amores, Miguel Navarro Cabrero, Dra. Aida Berenguel-Hernández and Spanish Multidisciplinary Wolfram Syndrome Group. Spain. Descriptive analysis of 68 patients with Wolfram syndrome with emphasis on sensorineural involvement and possible phenotype-genotype correlation. Abstract: Our work consists in providing […]

8th International Wolfram Symposium Presentation by Dr Malgorzata Zatyka – Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, Birmingham. UK Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome. Abstract: Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding […]

Deafblind Awareness Week…did you know that a red and white cane indicates deafblindness!  White canes are commonly used by people who are visually impaired or blind. But if you see someone with a red and white striped cane, they are likely to be deafblind. Support the Snow Foundation today in honor of those who struggle […]

Deafblind Awareness Week…It affects everyone differently, some might need to adjust the settings on their TV or turn up the volume on the phone, and others might need assistance dogs, canes and more formal care. But for anyone affected, everyday activities can be difficult and time consuming. Imagine trying to book a doctor’s appointment, meet […]