HUM-MOLGEN DIAGnostics/Clinical Research


DIDMOAD/Wolfram syndrome of diabetes and optic atrophy

I am a clinical research fellow undertaking a study of the DIDMOAD/Wolfram syndrome of diabetes and optic atrophy. I have spent the last 2 years seeing about 35 children and adults with this condition, in order to understand the natural history, complications, and inheritance. The aim of my study is firstly to characterise the condition and share the information as widely as possible to help the clinicians looking after patients. Secondly to collect blood samples from patients and close relatives to extract the DNA and look at the genetic causes, hopefully to find the gene(s) and look for mutations that cause this.

I would like to hear from clinicians who have patients with juvenile onset (under 30 years) diabetes mellitus, and optic atrophy as a minimum.

I would also like to hear about patients with a related condition of thiamin responsive anemia, deafness and diabetes.

My contact Email address: