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.
Time: 4:00 PM to 5:00 PM ET
Hybrid format:
Building 31/6C Rooms F-G
Zoom link
Meetings and Seminars
April 23, 2024
Mrinalini Hoon, PhD
Assistant Professor
Department of Ophthalmology and Visual Sciences
University of Wisconsin-Madison
Synaptic remodeling in the diseased retina
Note that the physical venue for only this talk is Rooms A-B in Building 31/6C; the timing and Zoom link remain the same.
May 16, 2024
Katia Del Rio-Tsonis, PhD
Professor
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
2024
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
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?
January 11, 2024
Yang Sun, MD, PhD
Professor of Ophthalmology
Stanford University
Shedding light on inherited eye diseases
2023
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
2022
| Dates | Names | Institution | Seminars |
|---|---|---|---|
| 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 Syndrome |
| 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 |
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