Entries by The Snow Foundation

A neurodegenerative perspective on mitochondrial optic neuropathies

Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from mild to severe clinical symptoms. There is currently no treatment to delay, halt, or reverse the progression of Wolfram syndrome, raising the urgency for innovative therapeutics for this disease. Here, we summarize our vision for developing novel treatment strategies and achieving a cure for Wolfram-syndrome-spectrum disorder.

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You Never Know Who’s Listening

I received a great email today from a mother who teaches 4th grade PSR (Parish School of Religion) at our church St. Clare of Assisi. She told me that at the end of their Monday night class, they around the room and each child will pray for someone or something important to them. She said one little […]

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Great Changes Are Coming

I have always had great intuition (good or bad), ask my friends and family! The Snow Foundation has hired a new President and CEO, Dr. Saad Naseer, who is driven and ready to make our dreams become reality. The foundation is finally receiving the full time attention and direction it deserves, which means Wolfram syndrome […]

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Chemical Chaperones Reduce ER Stress and Restore Glucose Homeostasis in a Mouse Model of Type 2 Diabetes

Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from mild to severe clinical symptoms. There is currently no treatment to delay, halt, or reverse the progression of Wolfram syndrome, raising the urgency for innovative therapeutics for this disease. Here, we summarize our vision for developing novel treatment strategies and achieving a cure for Wolfram-syndrome-spectrum disorder.

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Wolfram Syndrome: Diagnosis, Management, and Treatment

Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from mild to severe clinical symptoms. There is currently no treatment to delay, halt, or reverse the progression of Wolfram syndrome, raising the urgency for innovative therapeutics for this disease. Here, we summarize our vision for developing novel treatment strategies and achieving a cure for Wolfram-syndrome-spectrum disorder.

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A Mom’s Take On The Paris Wolfram Symposium

I attended my 3rd Wolfram symposium held in Paris France this past week. I brought along with me my sweet daughter Raquel and our babysitter, Kat Broom. I felt it was important to let Raquel experience Paris before she completely loses all of her eyesight.  As of now, she is considered legally blind. I am […]

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It’s the Little Things

We went to Children’s Hospital today and Raquel was more excited this time than previous visits. She was getting her Omni Pod (Insulin Pump). Her blood sugars have been all over the place, which is not a good thing. When her sugars are high or low they can affect her vision, moods and appetite. Did […]

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We Can Be Like The Big Foundations

Since my nephew’s diagnosis of Neuromyelitis Optica (NMO) I was curious if there were any foundations representing NMO, after all, this is a rare disease just like Wolfram syndrome. My sister sent me a link to a foundation called Guthy-Jackson Foundation. When I read about this foundation, I was a little envious of what they […]

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Prayers For My Nephew Jake

I am writing this from an airplane on my way home from Southern California after visiting my nephew, Jake, who has been lying motionless in a hospital bed for the last 16 days. Jake is an unbelievable 17-year old, great baseball player, as well as a type 1 diabetic. He has had diabetes since he […]

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