Research News

Regenerative Therapy and Modern Medical Genetics

I think a lot about a new platform for endoplasmic reticulum disease and other rare diseases. The new clinic requires new expertise in addition to conventional neurology, ophthalmology, and endocrinology. I feel that regenerative therapy and modern medical genetics based on high-throughput sequencing are the key players. I found an interesting video describing regenerative medicine. […]

Developing novel therapeutics to stop the progression of eye diseases

Some people say that it is not realistic to develop a novel therapy to stop the progression of eye manifestations in Wolfram syndrome. I don’t agree. It is possible. If we can modulate ER stress in retinal cells, we can slow or stop the progression of optic nerve atrophy in Wolfram syndrome. I have found a […]

Endoplasmic Reticulum Disease Clinic 2: First Step

By Dr. Fumihiko Urano What is the first step to provide the best care for patients with rare endoplasmic reticulum diseases, including Wolfram syndrome? The answer probably applies to any undiagnosed disease. My answer as of today is “exome sequencing.” What is exome sequencing? Exome sequencing is a new technology to sequence all the genes […]

Wolfram Research Clinic Day 1: Biomarker???

Wolfram research clinic is ongoing and our patients are going through many tests. At this year’s clinic, we are collecting blood samples from not only patients but also their parents and siblings. Why? The reason is we plan to measure “BIOMARKER” levels in these samples. What is a biomarker? A biomarker is a molecule found […]

Wolfram Research Clinic – Day 0

By Dr. Fumihiko Urano Our annual Wolfram syndrome research clinic will start today, and I met with most of the patients and their families last night. I have been very impressed by them. In this clinic, we don’t provide any treatment. We just collect information and samples from patients, their parents and siblings. All of […]

Wolfram syndrome timeline

2008 – Studies show that WFS1 is one of top ten causative candidate genes for T2D. (ref 5). 2010 – Wolfram Syndrome International Registry and Research Clinic started. 2011 – Snow Fund contributes to Research Clinic beginning in year two and to Permutt lab research 2011. 2012 – Dr. Permutt dies June 6, 2012. 2012 […]

Wolfram Syndrome Links

Wolfram syndrome Links Of Interest Please click on the links listed below to visit other web sites that can help you find more information to obtain knowledge on Wolfram syndrome. Washington University School of Medicine – Wolfram Syndrome Blog Wolfram syndrome (OMIM) Wolfram syndrome Family support: Worldwide Society of Wolfram syndrome Families UK Wolfram Syndrome […]

Study to analyze brains of kids with rare disorder

October 26, 2012 Researchers at Washington University School of Medicine in St. Louis have received a five-year, $2.7 million grant to detect and analyze differences in the brains of children with a rare illness, Wolfram syndrome. The disorder, which is caused by mutations in a single gene, includes a severe form of diabetes, hearing and vision loss […]

2012 Wolfram Syndrome Research Update

Compiled By: Tamara Hershey, Ph.D., Bess Marshall, M.D., Fumi Urano, M.D., Ph.D. and the WU Wolfram Study Group members Overview This past year has been an exciting but also difficult one for our group and for the Wolfram community. While we have made great gains in our research efforts, we also lost our friend, colleague […]

Treatment target for diabetes, Wolfram syndrome

August 7, 2012 Inflammation and cell stress play important roles in the death of insulin-secreting cells and are major factors in diabetes. Cell stress also plays a role in Wolfram syndrome, a rare, genetic disorder that afflicts children with many symptoms, including juvenile-onset diabetes. The bright green spots are TXNIP molecules, potential treatment targets for […]