FHU-TRANSLAD

FHU-TRANSLAD is an original, innovative, large-scale international project promoting innovation in care, research and teaching in the field of rare developmental diseases. It brings together various multidisciplinary clinical and research teams of the French University Hospitals (CHU) Dijon and Besançon, the Universities of Burgundy and Franche-Comté and Inserm (the French National Institute of Health and Medical Research). Its aim is to respond to questions that cannot be resolved individually by existing structures. It is the fruit of the analysis of patients' needs and organisational requirements resulting from emerging innovative technologies. In a context where rare diseases and genomic medicine are French and European priorities (French National Rare Diseases Plan 3/4) -- France Genomic Medicine Plan 2025), the development in the past decade of new DNA sequencing technologies, so-called "high throughput" or "next-generation sequencing" (NGS), has profoundly transformed research perspectives, whilst also opening new lines of research in the diagnosis and management of these pathologies. It contributes to the dissemination of knowledge to professionals, students and more widely, to the general public. FHU-TRANSLAD also highlights the societal and economic challenges raised by genetic and personalised medicine, and has led to the emergence of a public debate around the ethical questions posed by the introduction of these new technologies into healthcare.

In 2013, FHU-TRANSLAD was voted no.1 by an international jury following a call for projects co-issued by the university hospitals and the universities of the French regions of Burgundy-Franche Comté (Dijon and Besançon CHUs, Burgundy and Franche Comté Universities, Georges-François Leclerc Anti-cancer Centre and the French Blood Bank), with the aim of promoting projects which combine excellence, are unifying and innovative.

• Line 1: a multidisciplinary patient assessment and treatment centre
• Line 2: optimisation of the genetic diagnosis
• Line 3: a reference centre for training and information in genomics centred on hereditary diseases
• Line 4: a more effective organisation of patient care and an ethical approach to genomic medicine: with input from the human and social sciences (HSS)
• Line 5: high quality clinical, molecular, neuro-cognitive and pathophysiological research with a centre for clinical and therapeutic trials

Today in France, over 3 million individuals have genetic diseases, of which a large proportion are developmental abnormalities. The latter, which concern 3% of births, include malformations, combined or not with learning disorders, a majority being the result of gene or chromosome anomalies. To date, over 3,000 genetic developmental diseases are listed and several dozen are described annually. Often poorly understood by the care sector, they are a major public health problem due to the chronic and severe complications, disability and sometimes the life-threatening situations that they can cause. These pathologies require multidisciplinary management which exceeds the scope of Medical Genetics.

The exponential rise in progress resulting from recent technological innovations gives a glimpse of a revolution for patients in diagnosis and research, as long as the required additional skills become integrated into the care sector. Therapeutic solutions remain rare, but some are emerging and therapeutic trials are necessary. At FHU-TRANSLAD, the coordinating team, developed from successful or emerging clinical and laboratory teamwork, provides a response to these new issues by seeking partners with recognised and complementary skills to meet the challenge posed by rare diseases, in collaboration with patient associations. 

Given the success of its approaches to developmental diseases and encouraged by the scientific committee, FHU TRANSLAD has gradually extended its actions to neurogenetic diseases and intends to apply its approach to other rare diseases as future collaborations arise.