Soutenance de thèse Marion LENGLET

The von Hippel-Lindau disease is a hereditary syndrome which predispose patients to the development of nervous central, retina, kidney or adrenals tumors all along their lives. Chuvash polycythemia is a hereditary disease which is characterized by a high level of red blood cells which increases the blood viscosity and the risk of thrombosis or cerebrovascular accident.
These pathologies are due to mutations of one gene named VHL. During my thesis, I identified new mutations in non-investigated regions of this gene in patients who developed one of the pathologies and who don’t have genetic diagnosis yet. This discovery will allow patients and their families to benefit from a better medical surveillance and therapy. I have also identified the mechanisms involved in these new molecular abnormalities at the origin of the pathologies. My thesis allowed major advances into the diagnosis and the comprehension of hereditary pathologies linked to the VHL gene.