TRANSLAD - Translational medicine in development disorders

A diagnostic centre at the cutting edge of molecular genetic technology

The diagnosis of rare developmental disorder (DD) diseases and/or intellectual disability (ID) is a veritable public health challenge since these diseases affect 3% of new-borns, include deformities associated or unassociated with learning disorders, and are for the most part secondary to genetic or chromosomal abnormalities. Diagnosis of the causes is of major interest to patients as it determines genetic counselling, prognosis, treatment focus and the prescription of target therapies. The abundance of possible causes, known or unknown, makes for a difficult diagnosis, one which currently relies on the clinical expertise of dysmorphologists, research into the targeted gene and the use of array CGH chips With the use of these costly tests, 40 to 45% of patients can be diagnosed, the result of which is usually the identification of a chromosomal re-arrangement.
Owing to high-throughput sequencing techniques, genetics has seen a veritable technological revolution, especially in the development of multiomics. For years now, exome sequencing (ES) through its expansion has demonstrated its impressive efficacy in identifying genes responsible for rare diseases and its major importance in the diagnosis of DD/ID (developmental disorders/intellectual disability) by the identification of a genetic cause in 20 to 50% of patients who had up until then exhausted all possible diagnostic resources. This rate increase is generating major interest among patients and their families.
Since 2013, FHU-TRANSLAD has been categorised as a leading European centre in the application of ES to research and to routine diagnosis of patients with rare DD/ID diseases in Bourgogne and all over France. FHU-TRANSLAD currently ranks as one of France's leaders in the transfer of other multiple omics, such as whole genome sequencing (WGS) and whole RNA sequencing (RNA-seq).