Laboratoire Cerba and the University of Bourgogne will be working together to identify new genes involved in rare genetic diseases using whole exome sequencing.


Whole exome sequencing constitutes a new and particularly promising field of investigation in human genetics.

Laboratoire Cerba, is using this diagnostic technique since last summer. Our commitment is the diagnosis of rare constitutional genetic diseases in order to avoid patients and their families a continued diagnostic odyssey in their search for an answer.


The diagnosis of rare genetic diseases is a crucial public health issue given the disabilities and complications associated with them. More than 6,000 diseases have so far been identified and each month five new ones are described in medical literature.


In this context, Laboratoire Cerba and the University of Bourgogne will be undertaking the joint supervision of a doctoral thesis. The aim of this collaborative project is to pool the data of both laboratories obtained by exome sequencing in order to identify new genes responsible for genetic diseases.


As Jean-Marc Costa, clinical pathologist at Laboratoire Cerba and specialist in constitutional molecular genetics, pointed out: "This public-private research partnership will provide further knowledge in the field of rare diseases thanks to the joint patient recruitment of the CHU Dijon Bourgogne and Laboratoire Cerba. It illustrates our commitment to work alongside medical practitioners and patients, to develop research and accelerate the availability of research outcomes to all patients".


According to Professor Laurence Faivre, coordinator for the "developmental anomalies and malformation syndromes" Centre of Reference for Rare Diseases at the CHU Dijon Bourgogne, "this jointly-supervised thesis will enable us to unite our strengths to discover and validate new genes involved in rare diseases. We are delighted with both past and future collaborations with Laboratoire Cerba in this field".


This doctoral thesis is set to begin next January for an initial period of three years. The first results are expected at the end of 2017. This will certainly open a large number of promising perspectives for all the patients and will enable the practitioners to offer both patients and families the very best support possible.