WHAT IS WOLFRAM SYNDROME?
Wolfram Syndrome is an autosomal recessive genetic disorder in that the mother and the father each pass two copies of the gene down to the child. Wolfram Syndrome is considered a rare disease and afflicts about 1 in 500,000 people. There are around 30,000 patients in the world who have this disease.
In early childhood, kids with Wolfram Syndrome first develop insulin-dependent diabetes. Unlike common types of diabetes, these children go on to develop blindness, deafness and other neurologic disturbances. Wolfram Syndrome can also lead to loss of sense of smell, problems with balance and coordination, muscle spasms and seizures, urinary tract problems, and irregular breathing.
There are currently no drug therapies or cures that exist for Wolfram Syndrome. As a result, more than 60% of Wolfram patients die before age 30.
Why Research Wolfram?
It is crucial that we gain a complete understanding of the complexities of Wolfram Syndrome by performing rigorous research, which will serve as the platform to discover and clinically test successful treatment options. Researchers believe that finding a treatment and cure for Wolfram Syndrome may open doors for treating diabetes and other diseases such as Parkinson’s and Alzheimer’s.
Here‘s a short list of links with more detailed information about Wolfram Syndrome
Washington University School of Medicine – Wolfram Syndrome Blog
Wolfram Syndrome International Registry
Wolfram syndrome (OMIM)
New Compound Treats Both Blindness and Diabetes in Animal Studies
Family support: Worldwide Society of Wolfram syndrome Families
UK Wolfram Syndrome Support Group
Global Genes Project
Optic nerve atrophy (NIH)
Diabetes mellitus (American Diabetes Association)
Diabetes mellitus (NIH)
Diabetes Insipidus (NIH)
National Diabetes Clearinghouse
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)