Inherited retinal diseases are a heterogeneous group of blinding disorders characterized by photoreceptor degeneration, eventually leading to blindness.
No treatment is currently available to avoid the unfortunate outcome. Within the past two decades, progresses in molecular genetics have increased our knowledge of disease mechanisms. There is however more to learn in order to decipher the complexity of the diseases and establish innovative therapeutic approaches. These are the main areas of my current research. Many patients with inherited retinal diseases are referred to Quinze Vingts Hospital in Paris and are investigated in details in the clinical investigation center coordinated by Prof Sahel and Dr Mohand-Saïd.
Within the genetic team of Shomi Bhattacharya, we are conducting genotyping studies on these patients to further increase our knowledge in these disorders and conduct phenotype/genotype correlations. We are screening for mutations on genes known to cause retinal dystrophies. When these are excluded we are looking for new candidate genes. Further functional analyses are conducted to better characterize the role of these new genes. Phenotype/genotype correlation leads us to obtain well-characterized cohorts of patients suited for future clinical trials. One direct application would be to promote cone survival in patients with mutations expressed only in rods The work conducted from Dr Léveillard’s group on RdCVF, to which I am also participating, is one very promising approach in theses yet incurable cases.
Institut de la Vision / Quinze Vingts Hospital Paris, France
Department of Genetics
[Vision-Research.eu-Profile of Isabelle Audo]