DR. WILLIAM GAHL RECEIVED EURORDIS BLACK PEARL AWARD 2022

The EURORDIS Lifetime Achievement recognises the lifelong dedication Dr. Gahl has shown in addressing the needs of people living with a rare and undiagnosed disease. With this award, we would like to acknowledge the key role he has played in the creation of the Undiagnosed Diseases Network (UDN) within the National Institutes of Health, a programme that has played an essential role in discovering many new genetic disorders. His unwavering support of the rare and undiagnosed disease cause and his patient-centred approach is demonstrated by the leadership role he played in the development of the International Network on Undiagnosed Diseases (UDNI). The programme provides an admirable example of an international institution which brings together the undiagnosed community at the global level and creates a structure and forum to exchange on undiagnosed cases for clinicians working worldwide.

Dr Gahl is world-leading researcher and expert in rare metabolic disorders, publishing more than 450 peer-reviewed papers. He is a leading expert for cystinosis and was instrumental in getting approval of the first treatment for cystinosis. Additionally, this award also recognises the discoveries made by Gahl’s lab of the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency.