Approved Research

Analyses on rare vascular diseases

Lay summary

To help validate our findings and the methodological approach in general, we will also conduct similar analyses on other rare vascular diseases (ex: Mafran syndrome), diseases affecting disparate sets of physiologic systems (ex: polycystic kidney disease, Diamond-Blackfan anemia, neurofibromatosis, and hereditary neuropathies) and on a genetic disorder with a well-characterized common variant architecture (alpha-1 antitrypsin deficiency).