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.
Upcoming Meetings and Seminars
An integrated bioinformatic toolbox for the analysis of rare disease genetic data
October 31, 2024 — 12:00 pm to 1:00 pm ET
Carlo Rivolta, Ph.D.
Professor of Ophthalmic Genetics, Institute of Molecular and Clinical Ophthalmology Basel (IOB)
University of Basel, Switzerland
Characterization of the alternate visual cycle in muller gells for regeneration of cone opsins
November 14, 2024 — 12:00 pm to 1:00 pm ET
Gabriel H Travis, M.D.
Professor, Ophthalmology and Biological Chemistry
Charles Kenneth Feldman Chair in Ophthalmology
University of California Los Angeles
Pioneering new enhancers by GATA3: role of facilitating transcription factors and chromatin remodeling
December 16, 2024 — 12:00 pm to 1:00 pm ET
Krystal A. Orlando, Ph.D.
2024 RDIG SIG Awardee
Postdoctoral Fellow, Eukaryotic Transcriptional Regulation Group
National Institute of Environmental Health Sciences
Epigenetic Regulation of Neurological Disorders: Role of Lysine acetyltransferases p300/CBP
December 20, 2024 — 12:00 pm to 1:00 pm ET
Tapas K. Kundu, Ph.D.
Professor
Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR)
Bangalore, India
Past Meetings and Seminars
Precision genome surgery for imprecision medicine
October 7, 2024 — 12:00 pm to 1:00 pm ET
Stephen H Tsang, M.D., Ph.D.
Laszlo Z. Bito Professor of Ophthalmology
Professor of Pathology and Cell Biology
Columbia University
Enrichment and application of early M/L cones from human pluripotent stem cells
September 30, 2024 — 12:00 pm to 1:00 pm ET
David Gamm, M.D., Ph.D.
Professor, Ophthalmology and Visual Sciences
University of Wisconsin-Madison
Deciphering lymphocyte regulomes in neurodegenerative diseases
August 15, 2024 — 12:00 pm to 1:00 pm ET
Han-Yu Shih, Ph.D.
Stadtman Investigator, Neuro-Immune Regulome Unit
National Eye Institute, NIH
New retinopathies from old genes: insights into RPE65 and other key genes
July 22, 2024 — 12:00 pm to 1:00 pm ET
Elfride De Baere, M.D., Ph.D.
Senior Full Professor, Ghent University
Senior Clinical Investigator, Research Foundation Flanders
Interrogating retinal development, cell by cell
June 6, 2024 — 4:00 pm to 5:00 pm ET
Majlinda Lako, Ph.D.
Professor of Stem Cell Science
Newcastle University
Understanding the regenerative powers of ocular pigment epithelium
May 16, 2024 — 4:00 pm to 5:00 pm ET
Katia Del Rio-Tsonis, Ph.D.
Professor, Department of Biology
Miami University, Ohio
Synaptic remodeling in the diseased retina
April 23, 2024 — 4:00 pm to 5:00 pm ET
Mrinalini Hoon, Ph.D.
Assistant Professor, Department of Ophthalmology and Visual Sciences
University of Wisconsin-Madison
Childhood glaucoma genetics: changing paradigms
April 2, 2024 — 4:00 pm to 5:00 pm ET
Terri Young, M.D., M.B.A.
Peter A. Duehr Professor of Ophthalmology, Medical Genetics, and Pediatrics
Chair of the Department of Ophthalmology and Visual Sciences
University of Wisconsin-Madison
How does the retina generate so many cell types?
March 7, 2024 — 4:00 pm to 5:00 pm ET
Constance Cepko, Ph.D.
Bullard Professor of Genetics and Neuroscience
Harvard University, Howard Hughes Medical Institute
Shedding light on inherited eye diseases
January 11, 2024 — 4:00 pm to 5:00 pm ET
Yang Sun, M.D., Ph.D.
Professor of Ophthalmology
Stanford University
Molecular underpinning of retinal degenerations
December 7, 2023 — 4:00 pm to 5:00 pm ET
Radha Ayyagari, Ph.D.
Professor of Ophthalmology and Pathology
University of California, San Diego
A road map for neuro-protective and restorative therapy in glaucoma
November 9, 2023 — 4:00 pm to 5:00 pm ET
Ahmara Ross, M.D., Ph.D.
Assistant Professor of Ophthalmology and Neurology
University of Pennsylvania
Research Seminar: Pathomechanisms of retinal ciliopathies and novel approaches to deliver large genes using AAV
October 10, 2023 — 4:00 pm to 5:00 pm ET
Seongjin Seo, Ph.D.
Associate Professor of Ophthalmology
Department of Ophthalmology and Visual Sciences
University of Iowa
Thyroid hormone makes sense: diversity and death of cone photoreceptors
August 24, 2023 — 4:00 pm to 5:00 pm ET
Douglas Forrest, Ph.D.
Senior Investigator, Chief of the Nuclear Receptor Biology Section
National Institute of Diabetes and Digestive and Kidney Disease
Deciphering transcription factors in cell type-specific development
August 3, 2023 — 4:00 pm to 5:00 pm ET
Ronna Hertzano, M.D., Ph.D.
Chief of the Neurotology Branch
National Institute on Deafness and Other Communication Disorders
Additional Past Events
2023
April 18th, 2023
"New Approaches to Retinal Gene Therapy"; Leah Byrne, Ph.D., University of Pittsburgh School of Medicine.
March 21st, 2023
"Genetics of and Genetic Therapies for Inherited Retinal Degenerations"; Eric A. Pierce, M.D., Ph.D., Harvard Medical School.
February 28th, 2023
"The Molecular Genetics of a Syndromic Retinopathy: Bardet-Biedl Syndrome"; Val Sheffield, M.D., Ph.D., University of Iowa.
January 10th, 2023
"Sorsby Fundus Dystrophy: New Insights into Molecular Mechanisms of Pathogenesis"; Bela Anand-Apte, MBBS, Ph.D., Cleveland Clinic Foundation.
2022
November 15th, 2022
"Photoreceptor Metabolism in AMD Pathogenesis"; Claudio Punzo, Ph.D., University of Massachusetts Chan Medical School (UMMS).
November 10th, 2022
"Metabolic Inter-dependence Between Retina"; Jianhai Du, Ph.D., West Virginia University.
October 18th, 2022
"Inherited Retinal Degenerations: Slip Sliding Away on Lipid Pathways"; Steven J. Fliesler, Ph.D., University of Buffalo.
September 20th, 2022
"Retinal Organoids: Transforming the Drug Development Pipeline"; Natalia Vergara, Ph.D., University of Colorado Anschutz Medical Campus.
August 16th, 2022
"Recent Developments in Gene Editing"; Lijin Dong, Ph.D., National Eye Institute, NIH.
July 19th, 2022
"Inherited Retinal Dystrophies Related to IMPG2 Mutation"; Isabel Pinilla, M.D., Ph.D., University of Zaragoza (Spain).
2021
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
2020
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
2019
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