Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
This report provides the largest assessment of genetic causality in the IRD patient population across multiple continents to date.
Authors
- Kimberly E. Stepien (ORCID: https://orcid.org/0000-0002-4498-6495)
- Janet K. Cheetham (ORCID: https://orcid.org/0000-0003-4603-5375)
- Michele Melia (ORCID: https://orcid.org/0000-0002-2011-3833)
- Isabelle S. Audo (ORCID: https://orcid.org/0000-0003-0698-5309)
- Dror Sharon (ORCID: https://orcid.org/0000-0002-1789-5811)
- Rachel M. Huckfeldt (ORCID: https://orcid.org/0000-0002-9220-2261)
- Stephen P. Daiger (ORCID: https://orcid.org/0000-0002-3748-1827)
- Juliana Maria Ferraz Sallum (ORCID: https://orcid.org/0000-0002-7206-4447)
- José-Alain Sahel
- Lassana Samarakoon
- Todd A. Durham (ORCID: https://orcid.org/0000-0002-0363-0329)
- Allison R. Ayala (ORCID: https://orcid.org/0000-0002-1483-7536)
- Abigail T. Fahim (ORCID: https://orcid.org/0000-0001-9737-054X)
- Kaylie Webb-Jones (ORCID: https://orcid.org/0000-0003-2818-5097)
- Kari Branham
- Patty P.A. Dhooge (ORCID: https://orcid.org/0000-0003-1096-1668)
- Mark E. Pennesi (ORCID: https://orcid.org/0000-0002-4943-6599)
- Christina Y. Weng (ORCID: https://orcid.org/0000-0003-3135-1922)
- Mandeep S. Singh (ORCID: https://orcid.org/0000-0003-1749-0088)
- Michel Michaelides (ORCID: https://orcid.org/0000-0002-1552-7046)
- Jacque L. Duncan (ORCID: https://orcid.org/0000-0002-9593-6412)
- Ramiro S. Maldonado (ORCID: https://orcid.org/0000-0002-8440-2095)
- Robert B. Hufnagel (ORCID: https://orcid.org/0000-0003-3015-3545)
- Susanne Kohl
Institutions
- Massachusetts Eye and Ear Infirmary (US)
- Centre National de la Recherche Scientifique (FR)
- Institut de la Vision (FR)
- Kaiser Permanente (US)
- Harvard University (US)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- Oregon Health & Science University (US)
- University of Pittsburgh (US)
- Duke University (US)
- University of California, San Francisco (US)
- Baylor College of Medicine (US)
- Hebrew University of Jerusalem (IL)
- University of Michigan (US)
- Hadassah Medical Center (IL)
- Centre hospitalier national d'ophtalmologie des Quinze-Vingts (FR)
- Foundation Fighting Blindness (US)
- Sorbonne Université (FR)
- Michigan United (US)
- Retina Foundation of the Southwest (US)
- Jaeb Center for Health Research (US)
- STZ eyetrial (DE)
- Moorfields Eye Hospital (GB)
- Johns Hopkins Hospital (US)
- University College London (GB)
- University of Tübingen (DE)
- Universidade Federal de São Paulo (BR)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-02-05
- DOI
- https://doi.org/10.1167/iovs.66.2.12
- Citations
- 3
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Sanofi
- Biogen
- Sunovion
- Regeneron Pharmaceuticals
- PTC Therapeutics
- REGENXBIO
- Arrowhead Pharmaceuticals
- BioCryst
- Alimera Sciences
- Aldeyra Therapeutics
- Astellas Pharma
- ProQR Therapeutics
- Genentech
- Allergan
- Spark Therapeutics