Barth syndrome(BTHS) is an X-linked rare disease – 0.00015% at birth, mainly boys – caused by mutations in the TAZ protein coding gene. Among the directly linked clinical disorders, one can mainly mention the cardiomyopathy and neutropenia which, if both present on a young patient, let suspect BTHS and ask for gene testing to confirm it or not.
Despite the few patients and pedigrees worldwide, systematic surveys around year 2000 allowed significant improvements of the heart failure management and prevention of infections in infancy. Since this year, the survival rate increased from 20 to 70%.
The daily medical care required to treat all the pathologies of BTHS is a significant burden for patients and families as well. The Barth-syndrome foundation, worldwide, and Barth-France in France, do inform the public about BTHS, help concerned families about medical treatments, participate to the medical involvement, and, by the mean of media actions, collect funds for the scientific research.
On another hand, the Centre National de Génotypage(CNG), with high throughput sequencing and genotyping capabilities, and integrated analysis technologies, advances significantly the research on the genetics of human diseases. More that forty sequencing and twenty genotyping projects, including rare diseases, are ongoing or under preparation at CNG. The technologies used and developed at CNG allow the fast sequencing and the bio-informatics analysis of the genome of a single person, i.e. 100 gigabytes. The genomic profile of a considered illness can be individually built, and a personalized genomic medicine proposed to an affected patient.
After an introduction to BTHS and the actions of Barth-France organization, the related historical and medical background will be presented, and an exhaustive description of the pathologies, and their treatment, will be explained. The goals, actions and techniques of CNG will be exposed afterwards, with an emphasis on the personalized genomic medicine, and the possible applications on BTHS treatment.
APHP Necker, Centre National de Génotypage, APHP Trousseau, Association Barth-France