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RDIG-NNRL Symposium: Emerging Horizons in Retinal Genetics, Biology and Disease

Event type:

March 16, 2023 - March 17, 2023

Building 31C, 6th Floor, Rooms F-G
9000 Rockville Pike
Bethesda, MD 20892 View the live event

The Retinal Disease Interest Group (RDIG)  and the Neurobiology Neurodegeneration & Repair Laboratory (NNRL) is  hosting a symposium  on the Emerging Horizons in Retinal Genetics, Biology and Disease.  An excellent slate of junior and senior scientists  will discuss their recent research of interest in the field of retina. 

This will be a hybrid event via Zoom and in person.

For archive video, contact Charlie Drinnan ( or Anand Swaroop ( 


DAY 1 

8:00 - 8:15 a.m. Virtual Check– in – Coffee/Breakfast

8:15 - 8:30 a.m. 

Welcome –  Anand Swaroop, National Eye Institute 
Opening Remarks – Michael F Chiang, director, National Eye Institute

Session 1

Session chair: Douglas Forrest, National Institute of Diabetes, Digestive, and Kidney Diseases 

8:30 - 9:30 a.m. Constance Cepko, Harvard Medical School (Introduction/host – Florian Regent) – “How does the retina generate so much diversity?”

9:30 - 9:45 a.m. Soumitra Pal, National Eye Institute – “Evolution of retinal cell– types and retinal adaptation for nocturnality”

9:45 - 10:15 a.m. Sudeep Mehrotra, Massachusetts Eye and Ear Infirmary (Introduction/host – Partha Dey) – “Isoform discovery in human retina”

Break 10:15 - 10:45 a.m. – Coffee

Session 2 

Session Chair: Catherine Cukras, National Eye Institute

10:45 - 11:45 a.m. Ayellet Segre, Massachusetts Eye and Ear Infirmary (Introduction/host – Nivedita Singh) – “From genetic variation and single cell genomics to mechanisms underlying complex retinal disease”

11:45 a.m. – noon. Rinki Ratnapriya, Baylor College of Medicine (Introduction – Kyle Schwab) – “Building machine learning models for investigating molecular basis of age– related macular degeneration” 

Noon - 12:30 p.m. 

Jayshree Advani, National Eye Institute – “Integration of human retinal DNA methylome with genetic variants and gene expression identifies regulatory epigenetic mechanisms in age– related macular degeneration”

Jaya Krishnan, National Eye Institute – “Elucidating genotype– phenotype correlation in age– related macular degeneration – Refining its
genetic etiology”

Partha Dey, National Eye Institute – “Deletion of age– related macular degeneration– associated paired immunoglobin– like receptor B (PILRB) leads to photoreceptor dysfunction in the mouse retina”


12:30 - 1:30 p.m. Break. Informal discussion and lunch for all in–person attendees

Session 3

Session chair: Hyun Beom Song

1:30 p.m. – 2:00 p.m. 

Ximena Corso Díaz, National Eye Institute – “The photoreceptor–specific transcription factor NRL interacts with RNA– binding proteins and regulates R– loop levels”

Xulong Liang, National Eye Institute – “Multifaceted modulation of the regulatory activity of bZIP transcription factor NRL”

Kiam Preston, National Eye Institute – “Regulation of Gene Expression in Rod Photoreceptors by bZIP Transcription Factor NRL”

Nivedita Singh, National Eye Institute – “Genome wide profiling of promoter– anchored interactions in the human trabecular meshwork cells”


2:00 - 3:00 p.m. Emily Chew, National Eye Institute (Introduction/host – Mohita Gaur) – “The environmental and phenotypic risk factors on progression of AMD: Updates from AREDS/AREDS2”

3:00 – 3:30 p.m. Tim Cherry, University of Washington (Introduction/host – Xulong Liang) – “New Opportunities to Understand Hidden Genetic Variation in Retinal Disease”

3:30 - 3:45 p.m. Break Coffee.

Session 4 

Session chair: S Patricia Becerra, National Eye Institute

3:45 - 4:00 p.m. Jerome E Roger, University of Paris Saclay (Introduction/host – Wyndha.m.Batchelor) – “Glycogen Synthase Kinase 3: a multi– tasking kinase for photoreceptor development and maintenance” 

4:00 - 5:00 p.m. Krzysztof Palczewski, University of California Irvine (Introduction/host – Laura Campello) – “The future of pharmacology in the eye: traditional pharmacology, systems pharmacology, or genome editing” 

6:00 - 10:00 p.m. Networking and Dinner

8:15 – 8:30 a.m. Virtual Check-in; Coffee/Breakfast 

DAY 2 

Session 1 

Session chair: Paul Liu, National Human Genome Research Institute

8:30 – 9:30 a.m. - Claude Desplan – New York University (Introduction/host – Kiam Preston) – “The generation and evolution of neural diversity”

9:30 – 10:00 a.m. - Grazyna Palczewska – University of California Irvine (Introduction/host – Zepeng Qu) – “From mouse models to humans, two-photon imaging of the retinal in disease and therapy” 

10 – 10:30 a.m. Break. Coffee

Session 2

Session chair: Tiansen Li, National Eye Institute

10:30 – 11:00 a.m. – Volker Busskamp, University of Bonn (Introduction/host – Jaya Krishnan) – “Human stem cell models for vision research”

11:00 – 11:15 p.m. – Holly Chen, University of Alabama at Birmingham (Introduction/host – Carolina Beltrame Del Debbio) –  “High-throughput screening in iPSC-derived retinal organoids identifies drug candidate reserpine and derivatives to maintain photoreceptor survival”

11:15 – 12:00 p.m. 

Hyun Beom Song, National Eye Institute – “Attenuation of photoreceptor degeneration in P23H rhodopsin transgenic rats by reserpine, previously discovered in a photoreceptor survival screen of CEP290 retinal ciliopathy”

Florian Regent, National Eye Institute – “Modeling and gene therapy rescue of the retinal degeneration associated with Usher type 1C syndrome using patient-derived organoids”

Kyle Schwab, National Eye Institute – “Improving retinal organoid cultures using 3D-printed bioreactors”
Carolina Beltrame Del Debbio, National Eye Institute – “Molecular and regulatory networks during retinal organoid formation”

Wyndham Batchelor, National Eye Institute – “Long Term Culture of Adherent Retinal Organoids on Microbial Transglutaminase Crosslinked Gelatin Hydrogel”

Zepeng Qu, National Eye Institute – “Multi-level genome reorganization during human retinal organoid differentiation”


Noon – 1:00 p.m. – Break. Informal discussion and lunch for all in-person attendees 

Session 3

Session chair: Robert Fariss, National Eye Institute

1:00 – 2:00 p.m. Jacque Duncan, University of California San Francisco (Introduction/host – Ximena Corso Diaz) – “Clinical trials for inherited retinal degenerations: where do we go from here?”

2:00 – 2:30 p.m.

Anupam Mondal, National Eye Institute – “Diet- and sex-related responses in the aging retina identified by multi-omics approach”

Laura Campello, National Eye Institute – “Transcriptional dysregulation during retinal aging at single-cell resolution”

Mohita Gaur, National Eye Institute – “Histone Lactylation in the retina-linking metabolism to gene expression”


Session 4

Session chair: Wei Li, National Eye Institute

2:30 – 3:30 p.m. Donald Zack, Johns Hopkins Medicine (Introduction/host – Anupam Mondal) – “Challenges and opportunities for the development of neuroprotective strategies for the treatment of glaucoma and retinal degenerations”

3:30 – 3:45 p.m. Break

3:45 – 4:45 p.m.  Joshua Sanes, Harvard University (Introduction/host – Jayshree Advani) – “Retinal injury, disease, and evolution: a transcriptomic perspective”

4:45 - 5:00 p.m. Closing remarks. David Schneeweis, National Eye Institute


Charlie Drinnan, Ph.D.
Retinal Cell Biology & Degeneration Section

Last updated: March 16, 2023