“Cure through innovation” is the slogan of the Telethon 2013 fundraising campaign which will begin on 6 and 7 December.
For a very long time, these disorders, which are mainly genetic and invalidating, were poorly understood.
The Telethon, a major fundraising movement organised by and for the French Muscular Dystrophy Association (AFM), broadcast live on France Télévisions, puts genetic disorders in the limelight. The aim of these two days is to raise maximum funding to improve patient care, provide suitable help for patients and actively support research.
Professor Jérôme Bertherat, head of the Endocrine and Metabolism Disorders Department at Cochin Hospital in Paris, and his team have shown that a rare disease, Cushing’s syndrome caused by macronodular adrenal hyperplasia, has a genetic origin. The work, which was recently published in the New England Journal of Medicine, is an excellent illustration of the usefulness of genetics to gain a more sophisticated understanding of a rare disorder, and the physiopathology of other disorders.
Click to read the interview with Jérôme Bertherat (French version)
For press releases on the work of Inserm teams working on rare disorders, see: