Entries by The Snow Foundation

8th International Wolfram Symposium Presentation Dr Xuehao Cui – PhD student and research fellow University of Cambridge and Moorfields Eye Hospital

8th International Wolfram Symposium Presentation Dr Xuehao Cui – PhD student and research fellow University of Cambridge and Moorfields Eye Hospital   Exploring novel ocular biomarkers of disease in Wolfram syndrome   Abstract: Visual loss in Wolfram syndrome arises primarily due to the selective loss of retinal ganglion cells resulting in optic nerve degeneration. We […]

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8th International Wolfram Symposium Presentation Prof Gil Leibowitz – President of the Israel Endocrine Society (IES), Hadassah Medical center, the Hebrew University, Jerusalem, Israel. 

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 […]

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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.

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 […]

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8th International Wolfram Symposium Presentation Dr. Vania Broccoli – CNR – National Research Council Institute of Neuroscience, Milan. Italy

8th International Wolfram Symposium Presentation Dr. Vania Broccoli – CNR – National Research Council Institute of Neuroscience, Milan. Italy. New function of Wolframin in regulating the monocarboxylate transporter 1 (MCT1) in glial cells in brain and retina. Abstract: A key pathological manifestation in Wolfram syndrome is the progressive optic atrophy which leads to relentless visual loss. […]

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8th International Wolfram Symposium Presentation 

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 […]

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Deafblindness #6

Today ends the Deafblind Awareness Week. Deafblindness isn’t obvious and you can’t always tell by looking at someone. Try to be open and inclusive always. Hopefully we can make the world a more deafblind-friendly place. Support the Snow Foundation today in honor of those who struggle with vision and hearing loss. https://thesnowfoundation.org/donate/

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Deafblindness Awareness Week #5

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 […]

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Deafblindness Awareness Week #4

The Snow Foundation is supporting #DeafblindAwarenessWeek to raise awareness for people living with sight and hearing loss! There are estimated to be over 15 million people with severe deafblindness worldwide-equivalent to the populations of Sweden and Norway combined. Support the Snow Foundation today in honor of those who struggle with vision and hearing loss. https://thesnowfoundation.org/donate/

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Deafblindness Week #3

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 […]

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