The Hereditary Hearing Loss Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants cause hearing loss. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.
|Ahmad Abou Tayoun, PhD||Executive Leadership|
|Sami Amr, PhD||Executive Leadership|
|Heidi Rehm, PhD||Executive Leadership|
|Andrea Oza, MS, CGC||Coordinator|
|Hela Azaiez, PhD||Member|
|Alexander Chapin, PhD||Member|
|Marina DiStefano, PhD||Member|
|Hatice Duzkale, MD, MPH, PhD||Member|
|Amy Hernandez, MS, CGC||Member|
|Tatsuo Matsunaga, MD, PhD||Member|
|Jun Shen, PhD||Member|
|Wenying Zhang, MD, PhD||Member|
|Lisa A. Schimmenti, MD||Member|
|Margaret Kenna, MD, MPH||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.