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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.

Meetings and Seminars

Upcoming seminars

December 7, 2023
Time: 4:00-5:00 PM
Hybrid venue: Building 31/6C Rooms F-G
Zoom link

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

December 14, 2023
Robert Fariss, PhD
Chief of the Biological Imaging Core Facility
National Eye Institute
Advanced imaging techniques reveal insights into retinal ultrastructure and pathology

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

March 7, 2024
Constance Cepko, PhD
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 

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

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

2022-2023 Series





Tuesday, July 19th

Isabel Pinilla, M.D., Ph.D.

University of Zaragoza (Spain)

Inherited Retinal Dystrophies Related to IMPG2 Mutation

Tuesday, August 16th

Lijin Dong, Ph.D.

National Eye Institute, NIH

Recent Developments in Gene Editing

Tuesday, September 20th

Natalia Vergara, Ph.D.

University of Colorado Anschutz Medical Campus

Retinal Organoids: Transforming the Drug Development Pipeline

Tuesday, October 18th

Steven J. Fliesler, Ph.D.

University of Buffalo

Inherited Retinal Degenerations: Slip Sliding Away on
Lipid Pathways

Thursday, November 10th

Jianhai Du, Ph.D.

West Virginia University

Metabolic Inter-dependence Between Retina

Thursday, November 15th

Claudio Punzo, Ph.D.

University of Massachusetts Chan Medical School (UMMS)

Photoreceptor Metabolism in AMD Pathogenesis

Tuesday, January 10th

Bela Anand-Apte, MBBS, Ph.D.

Cleveland Clinic Foundation

Sorsby Fundus Dystrophy: New Insights into Molecular Mechanisms
of Pathogenesis

Tuesday, February 28th

Val Sheffield, M.D., Ph.D.

University of Iowa

The Molecular Genetics of a Syndromic Retinopathy: Bardet-Biedl

Tuesday, March 21st

Eric A. Pierce, M.D., Ph.D.

Harvard Medical School

Genetics of and Genetic Therapies for Inherited Retinal Degenerations

Tuesday, April 18th

Leah Byrne, Ph.D.

University of Pittsburgh School of Medicine

New Approaches to Retinal Gene Therapy

Last updated: October 20, 2023