Document is current
Any future updates will be listed below
-
Authors
Wang, Chiuhui Mary
Whiting, Amy Heagle
Rath, Ana
Anido, Roberta
Ardigò, Diego
Baynam, Gareth
Dawkins, Hugh
Hamosh, Ada
Le Cam, Yann
Malherbe, Helen
Molster, Caron M.
Monaco, Lucia
Padilla, Carmencita D.
Pariser, Anne R.
Robinson, Peter N.
Rodwell, Charlotte
Schaefer, Franz
Weber, Stefanie
Macchia, Flaminia
- License Information
-
More Information
Article History
Received: 11 March 2023
Accepted: 8 August 2024
First Online: 11 September 2024
Declarations
:
: Not applicable.
: Not applicable.
: AH is the Scientific Director of Online Mendelian Inheritance of Man (OMIM).DA was the Chair of the Therapies Scientific Committee at IRDiRC.FS is the Coordinator of the ERKNet, European Reference Network for Rare Kidney Disorders and President of the International Pediatric Nephrology Association.HD was the Vice-Chair of IRDiRC, and was the Director of the Office of Population Health Genomics for the Department of Health, Government of Western AustraliaGB was the chair of the Diagnostic Scientific Committee of IRDiRC and currently the chair of Interdisciplinary Scientific Committee of IRDiRC.LM was the Chair of IRDiRC between 2019-2021.
: All authors declare no conflicts of interest for the development of the Operational Description of Rare Diseases. DA is an employee of a pharmaceutical company.
