Why the need for a dedicated Functional Unit for innovation in rare disease diagnostics ?
FHU TRANSLAD was among the first in France to deploy the high-throughput exome sequencer, initially as a research exercise in identifying new genes responsible for rare diseases, and later more readily used in the diagnosis of rare developmental disorder and intellectual disability diseases. This meant that as early as 2014 the Federation established itself as a point of reference in the introduction of this technology to the area of diagnosis, with the development of efficient bioinformatic pipelines. Its objective is to make genome-wide HTS accessible to all rare disease patients in the Bourgogne region.
This objective, with the full backing of the Dijon Bourgogne University Hospital directorate, led to the creation of a functional unit specifically for innovation in genomic diagnostics for rare disease (UF6254) as part of the biology division, and to the recruitment of Prof. Christophe Philippe, university professor and hospital practitioner of molecular genetics, to head this operation. Co-director Prof. Christel Thauvin shares responsibility for the clinico-biological interface of this operation.
The subsequent introduction in 2015 of the spin-off Orphanomix, in association with SATT-Grand Est, expanded this service across the country to enable patients subject to extended diagnostic delays and awaiting genetic counselling to benefit from this new technology.
The operations of UF6254
Over the years, the team has acquired expertise and experience that have gained national and international recognition, and which are practically applied through a treatment path including ES for patients with rare intellectual disability and/or developmental disorder (ID/DD) diseases, and similarly for certain neurodegenerative diseases. To find out more
HTS is also applied in the molecular diagnosis of somatic mosaic-activating skin disorders within the FIMARAD network. To find out more
The UF6254 operations are staffed by 6 biologists (2 FTE), 5 engineers (2.5 FTE), 3 laboratory technicians (2.5 FTE) and 1 secretary (0.5 FTE).