Hereditary, Genetic & Developmental Aspects of Nephrology

BIOGRAPHY

Corinne Antignac

Academic positions:
- Prof. in Human Genetics at Paris 5 - René Descartes University
- Director of the Inserm group U574

Any industry positions (last five years):
None declared

Research interests:
Dr Antignac's main results concern the identification, by positional cloning, of four genes, NPHP1, NPHP4, CTNS and NPHS2 underlying hereditary kidney disorders, nephronophthisis, Cystinosis and steroid-resistant nephrotic syndrome. In all cases, the genes appeared to encode new proteins of unknown functions, which have been (or still are) characterised in the laboratory. In particular, Dr Antignac's group has shown that cystinosin, the CTNS gene product, is a lysosomal membrane protein and a cystine - proton symporter. Animal models, mostly by inactivation of the homologous gene in mouse, have been successfully generated, allowing better analysis of the disease phenotype and the future use of these models for testing emerging therapies. The group has also been involved in identifying genes by candidate gene approaches and in phenotype/genotype correlation in other hereditary renal disorders such as Bartter and Alport syndromes, with a particular emphasis on Alport syndrome and diffuse oesophageal leiomyomatosis.

Any other information:
She is a member of several national and internal societies (Société de Néphrologie Pédiatrique, Société de Néphrologie, European Society for Paediatric Nephrology, International Society of Nephrology, American Society of Nephrology) and numerous national scientific boards.