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Retinal Disease Interest Group

Retinal cross section with photoreceptors and nuclei stained

The process of vision is initiated in the retina, which is the most accessible part of the central nervous system, supplying over 30% of the sensory input to the brain (in humans). Not surprisingly, visual (and specifically retinal) dysfunction is observed in a large number of syndromic and inherited genetic diseases. The goal of RDIG is to promote interactions among scientists interested in biology, pathogenesis and treatments of syndromic diseases involving visual dysfunction or diseases of the neuronal tissue. Everyone is welcome to join and participate in lively discussions.

The group moderators are Drs. Anand Swaroop and Jacob Nellissery. To receive information about group activities, sign up for the sign up for the listserv , or send an email to RDIG-L@LIST.NIH.GOV.

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See calendar for details

Time: 4:00-5:00 p.m. 

Hybrid format: 
Building 31/6C Rooms F-G 
Zoom link

Meetings and Seminars

March 7, 2024
Constance Cepko, Ph.D.
Bullard Professor of Genetics and Neuroscience
Harvard University, HHMI
How does the retina generate so many cell types?

April 2, 2024
Terri Young, MD, MBA
Peter A. Duehr Professor of Ophthalmology, Medical Genetics, and Pediatrics
Chair of the Department of Ophthalmology and Visual Sciences
University of Wisconsin-Madison
Childhood glaucoma genetics: changing paradigms

April 24, 2024
Rachel Wong, PhD
Professor and Chair
University of Washington
Wiring specificity and plasticity of the vertebrate retina

May 16, 2024
Katia Del Rio-Tsonis, PhD
Miami University, Ohio
Understanding the regenerative powers of ocular pigment epithelium

June 6, 2024
Majlinda Lako, PhD
Professor of Stem Cell Science
Newcastle University
Interrogating retinal development, cell by cell

Past Seminars



January 11, 2024
Yang Sun, MD, PhD
Professor of Ophthalmology
Stanford University
Shedding light on inherited eye diseases


December 7, 2023
Radha Ayyagari, PhD
Professor of Ophthalmology and Pathology
University of California, San Diego
Molecular underpinning of retinal degenerations

November 9, 2023
Ahmara Ross, MD, PhD
Associate Professor of Ophthalmology and Neurology
University of Pennsylvania
A road map for neuro-protective and restorative therapy in glaucoma

October 10, 2023
Seongjin Seo, PhD
Associate Professor of Ophthalmology
Department of Ophthalmology and Visual Sciences, University of Iowa
Pathomechanisms of retinal ciliopathies and novel approaches to deliver large genes using AAV

August 24, 2023
Douglas Forrest, PhD
Senior Investigator, Chief of the Nuclear Receptor Biology
National Institute of Diabetes and Digestive and Kidney Disease
Thyroid hormone makes sense: diversity and death of cone photoreceptors

August 3, 2023
Ronna Hertzano, MD, PhD
Chief of the Neurotology Branch
National Institute on Deafness and Other Communication Disorders
Deciphering transcription factors in cell type-specific development


DatesNames InstitutionSeminars
Tuesday, July 19thIsabel Pinilla, M.D., Ph.D.University of Zaragoza (Spain)Inherited Retinal Dystrophies Related to IMPG2 Mutation
Tuesday, August 16thLijin Dong, Ph.D.National Eye Institute, NIHRecent Developments in Gene Editing
Tuesday, September 20thNatalia Vergara, Ph.D.University of Colorado Anschutz Medical CampusRetinal Organoids: Transforming the Drug Development Pipeline
Tuesday, October 18thSteven J. Fliesler, Ph.D.University of BuffaloInherited Retinal Degenerations: Slip Sliding Away on
Lipid Pathways
Thursday, November 10thJianhai Du, Ph.D.West Virginia UniversityMetabolic Inter-dependence Between Retina
Thursday, November 15thClaudio Punzo, Ph.D.University of Massachusetts Chan Medical School (UMMS)Photoreceptor Metabolism in AMD Pathogenesis
Tuesday, January 10thBela Anand-Apte, MBBS, Ph.D.Cleveland Clinic FoundationSorsby Fundus Dystrophy: New Insights into Molecular Mechanisms
of Pathogenesis
Tuesday, February 28thVal Sheffield, M.D., Ph.D.University of IowaThe Molecular Genetics of a Syndromic Retinopathy: Bardet-Biedl
Tuesday, March 21stEric A. Pierce, M.D., Ph.D.Harvard Medical SchoolGenetics of and Genetic Therapies for Inherited Retinal Degenerations
Tuesday, April 18thLeah Byrne, Ph.D.University of Pittsburgh School of MedicineNew Approaches to Retinal Gene Therapy


December 16, 2021
"Development of the Outer Plexiform Layer in the Human Retina"; Aaron Nagiel, Assistant Professor of Ophthalmology, USC Roski Eye Institute, Keck School of Medicine, University of Southern California

November 15, 2021
Multi-omics, Models and Machine Learning: Understanding Non-Coding Variants in Retinal Disease”; Tim Cherry, Pediatrics, Division of Genetic Medicine, Center for Developmental Biology and Regenerative Medicine, University of Washington – Seattle Children’s Research Institute

October 6, 2021
"The role of metabolism on photoreceptor cell health during the progression of retinal degenerative disease”; Katherine Wert, Departments of Ophthalmology and Molecular Biology, UT Southwestern Medical Center

October 4, 2021
"How the kinetics of Crx and Nrl binding to DNA shapes promoter activity"; Barry E. Knox, Departments of Ophthalmology and Visual Sciences as well as Biochemistry and Molecular Biology, SUNY Upstate Medical University

August 6, 2021
"Pathoconnectomics in retinal degeneration"; Bryan Jones, John A. Moran Eye Center, University of Utah School of Medicine

July 12, 2021
“Cis-regulatory landscapes in human retina and retinal enhanceropathies” ; Elfride De Baere, Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University

April 29, 2021
"Transplantation of human photoreceptors into mouse models of retinal degeneration - incorporation, maturation and function”; Marius Alder, Center for Regenerative Therapies, Center for Molecular and Cellular Bioengineering, Technische Universität, Dresden, Germany


September 30, 2020
"A high glycemia diet increases risk for age related macular degeneration: a mechanistic analysis"; Dr. Allen Taylor, Tufts University

February 3, 2020
"Thyroid hormone and cone photoreceptors: diversity, differentiation and death"; Dr. Douglas Forrest, NIDDK, NIH

January 6, 2020
“It is more than just ATGC: discovering new bases in DNA”; Dr. Aravind Iyer, NCBI, NIH


September 23, 2019
“Chaperones in photoreceptors: AIPL1 and Ric8A” ; Dr. Nikolai Artemyev,  Carver College of Medicine, University of Iowa

June 3, 2019
Dr. Michael Redmond, NEI, NIH

April 9, 2019
“A tale of ARL family of GTPases in photoreceptor health and function"; Dr. Visvanathan Ramamurth, School of Medicine, West Virginia University

April 1, 2019
“Novel peptides targeting retinal signaling: Toward peptide therapeutics”; Dr. S. Patricia Becerra, NEI, NIH

March 20, 2019
“Proteasomal overload as a common stress factor and therapeutic target in retinal degeneration” ; Dr. Vadim Arshavsky,  School of Medicine, Duke University

March 4, 2019
“Albinism: Can it become a treatable disease?”; Dr. Brian Brooks, NEI, NIH

February 6, 2019
“How studies of retinal development can help us combat retinal degeneration” ; Dr. Colin J. Barnstable, Department of Neural and Behavioral Sciences, Penn State Hershey Eye Center

Last updated: February 7, 2024