Skip to navigation Skip to main content Skip to footer

Approved Research

Analyses on rare vascular diseases

Principal Investigator: Dr Joseph Shieh
Approved Research ID: 53312
Approval date: June 11th 2020

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).