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XIX INTERNATIONAL SYMPOSIUM ON RETINAL DEGENERATION

RD2021

Sept. 27 - Oct. 2, 2021 Online and in person at the Sonesta Nashville Airport Hotel, Nashville, TN

International Organizing Committee

John D. Ash Eric Pierce Robert E. Anderson Catherine Bowes Rickman Joe G. Hollyfield Christian Grimm

A scientific conference planned and managed by:

Travel Awardees

(Note: Presenting authors are underlined. Travel Awardees are in bold.)

The organizers of RD2021 wish to congratulate the 101 recipients of RD2021 Young Investigator Travel Awards listed below and funded by the National Eye Institute, NIH, USA; the Foundation Fighting Blindness, USA; Pro Retina, Germany; and the Fritz Tobler Foundation, Switzerland. Eligibility was restricted to graduate students, postdoctoral fellows, instructors and assistant professors actively involved in retinal degeneration research. These awards were based on the quality of the abstract submitted by each applicant. The Travel Awards Committee consisted of 13 senior retinal degeneration investigators and was chaired by Catherine Bowes Rickman.

BrightFocus Foundation Awardees

Angela Armento Daniel Hass Marika Zuanon Postdoctoral Fellow Postdoctoral Fellow Graduate Student University of Tübingen University of Washington Cardiff University [email protected] [email protected] [email protected]

Manas Biswal Ankita Kotnala Bruna Costa Assistant Professor Postdoctoral Fellow Graduate Student University of South Florida Vanderbilt University Columbia University [email protected] [email protected] [email protected]

Shyamanga Borooah Beatriz Martins Miguel Flores-Bellver Assistant Professor Graduate Student Instructor University of California San Diego University of Coimbra University of Colorado [email protected] [email protected] [email protected]

Mayur Choudhary Freya Mowat Yeboah Gyening Senior Research Associate Assistant Professor Graduate Student Duke University School of University of Wisconsin-Madison University of Oklahoma Health Medicine [email protected] Science Center [email protected] [email protected] Arunkumar Ranganathan Antonio Escudero Postdoctoral Fellow Ezequiel Salido Paniagua University of Utah Research Assistant Professor Postdoctoral Fellow [email protected] West Virginia University

UCLA [email protected] [email protected] Sheldon Rowan Assistant Professor Kenya Wilcots Cody Fisher Tufts University Graduate Student Graduate Student [email protected] Lerner Research Institute

University of Minnesota [email protected] [email protected] Fnu Ruchi Staff Scientist Felix Yemanyi Allison Grenell national institute of healths Postdoctoral Fellow Graduate Student [email protected] Boston Children's Hospital/Harvard

Case Western Reserve Uiversity Medical School and Cleveland Clinic Cole Eye Yvette Wooff [email protected]

Institute Postdoctoral Fellow [email protected] Australian National University [email protected]

Travel Awardees

(Note: Presenting authors are underlined. Travel Awardees are in bold.) Foundation Fighting Blindness Awardees

Divya Ail University of California San Columbia University Postdoctoral Fellow Francisco [email protected]

Institut de la Vision [email protected] [email protected] Akanksha Roy Tae Jun Lee Graduate Student David Anderson Graduate Student PamGene International BV and Staff Scientist Washington University School of Wageningen University and Vanderbilt University Medicine Research [email protected] [email protected] [email protected]

Shannon Barwick yeh chwan leong Riccardo Sangermano Graduate Student Postdoctoral Fellow Postdoctoral Fellow Medical College of Georgia at University College London Massachusetts Eye and Ear Augusta University [email protected] Infirmary [email protected] [email protected]. Matsevich EDU Andrea Dillinger Graduate Student Postdoctoral Fellow Hadassah-Hebrew University Abirami Santhanam University of Regensburg Medical Center Instructor [email protected] [email protected] University of Texas Health Science center Lynn Ebner Faezeh Moakedi [email protected]

Graduate Student Graduate Student University of Zurich West Virginia University Will Spencer [email protected] [email protected] Postdoctoral Fellow Duke University Prakadeeswari Anupam Mondal [email protected] Postdoctoral Fellow Gopalakrishnan Chi Postdoctoral Fellow National Eye Institute/NIH [email protected] Postdoctoral Fellow Hadassah-Hebrew University Washington University in St. Louis Medical Center Nicholas Nolan [email protected] [email protected] Graduate Student Faiza Tahia TJ Hollingsworth Columbia University [email protected] Graduate Student Instructor University of Tennessee Health University of Tennessee Health Bilge Ozturk Science Center Science Center Postdoctoral Fellow [email protected] [email protected] University of Pittsburgh [email protected] Karen Tessmer Shivangi Inamdar Graduate Student Postdoctoral Fellow Alvaro Plaza Reyes TU Dresden University of Iowa Postdoctoral Fellow [email protected] [email protected] Fundación Progreso y Salud - Yiyi Archana Jalligampala CABIMER [email protected] Graduate Student Postdoctoral Fellow University of California, Berkeley University of Louisville-School of Xinye [email protected] Medicine Graduate Student [email protected] Yixiao Wang Baylor College of Medicine [email protected] Graduate Student Sangeetha Kandoi University of Florida Postdoctoral Fellow Peter Quinn [email protected] Postdoctoral Fellow

3 Travel Awardees

(Note: Presenting authors are underlined. Travel Awardees are in bold.)

Laura Whelan University of Pittsburgh and yunlu.@outlook.com

Graduate Student Xiangya Hospital, Central South Trinity College Dublin University Chen [email protected] [email protected] Postdoctoral Fellow Duke University School of Zhouhuan Xi Yunlu Xue Medicine Medical Student Postdoctoral Fellow [email protected] Harvard Medical School

NEI Awardees

Emily Brown Rinki Ratnapriya Postdoctoral Fellow Heather Heitkotter Instructor Harvard Medical School- Mass Eye Graduate Student Baylor College of Medicine and Ear Medical College of Wisconsin [email protected] [email protected] [email protected] Dmitri Serjanov Kaitlyn Calabro Tylor Lewis Postdoctoral Fellow Postdoctoral Fellow Postdoctoral Fellow University of Notre Dame University of Florida Duke University [email protected] [email protected] [email protected] Levi Todd Salvatore Caruso Ekaterina Lobanova Postdoctoral Fellow Graduate Student Assistant Professor University of Washington Columbia University University of Florida [email protected] [email protected] [email protected] -Ting Tsai Eric Enyong Abigail Moye Postdoctoral Fellow Graduate Student Postdoctoral Fellow Columbia University University of Oklahoma Health Baylor College of Medicine [email protected] Sciences Center [email protected] [email protected] Heran Getachew Isabella Palazzo Postdoctoral Fellow Aruna Gorusupudi Graduate Student Massachusetts Eye and Ear Postdoctoral Fellow The Ohio State Universtiy Infirmary University of Utah [email protected] [email protected] [email protected] Jillian Pearring Belinda Hernandez Michelle Grunin Assistant Professor Graduate Student Postdoctoral Fellow University of Michigan Duke University Case Western Reserve University [email protected] [email protected] [email protected] Rebecca Pfeiffer Leo Volkov John Postdoctoral Fellow Graduate Student Graduate Student University of Utah Moran Eye Washington University School of Thomas Jefferson University Center Medicine [email protected] [email protected] [email protected]

4 Travel Awardees

(Note: Presenting authors are underlined. Travel Awardees are in bold.)

Pro Retina Germany Awardees

Tess Afanasyeva Sai Kocherlakota [email protected]

Graduate Student Graduate Student Radboudumc KU Leuven Lea Thiebault [email protected] [email protected] Graduate Student Sorbonne Université Eloy Bejarano Fernandez Lorena Olivares González [email protected]

Assistant Professor Postdoctoral Fellow University CEU Cardenal Herrera CIPF Ioanna Tsioti [email protected] [email protected] Graduate Student Inselspital, University Hospital of Yiyi Chen Alonso Sánchez-Cruz Bern Graduate Student Postdoctoral Fellow [email protected]

University of Tuebingen Centro De Investigaciones [email protected] Biologicas Margarita Salas CSIC Jiaming [email protected] Graduate Student Pietro De Angeli Lund University Graduate Student Maria Solaki jiaming.zhou@med..se Universitätsklinikum Tübingen Graduate Student [email protected] Eberhard Karls University of Tuebingen

Fritz Tobler Foundation Awardees

Cavit Agca Marcus Hooper Assistant professor Postdoctoral Fellow Maximilian Pfau Sabanci University University of Washington Postdoctoral Fellow [email protected] [email protected] National Institutes of Health [email protected] Avigail Beryozkin Lia Huo Postdoctoral Fellow Graduate Student Sriganesh Ramachandra Hadassah-Hebrew University University of Toronto Rao Medical Center [email protected] Postdoctoral Fellow [email protected] State University of New York,

Duygu Karademir University at Buffalo Hernan Dieguez Graduate Student [email protected] Graduate Student University of Zurich Laboratory of Retinal [email protected] Yogapriya Sundaresan

Neurochemistry and Experimental Postdoctoral Fellow Ophthalmology, School of Ailis Moran [email protected] Medicine/CEFyBO, University of Graduate Student Buenos University College Dublin Sheetal Uppal [email protected] [email protected] Postdoctoral Fellow

[email protected] Mitra Farnoodian Tedrick Florian Peters Postdoctoral Fellow Postdoctoral Fellow Mallika Valapala National Institutes of Health University of Zurich/University Assistant Professor [email protected] Hospital Zurich [email protected] [email protected]

5 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.)

Meeting Venue. Registration in Capitol 1 Platform presentations in Nashville Ballroom Coffee breaks in Nashville Ballroom Foyer and Patio Meals in Cumberland Ballroom and Patio Posters in Salons A, B, C, F, G, and H.

Map of the Sonesta Nashville Airport Hotel meeting center.

6 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) Monday, September 27, 2021 13:00 - 19:00 Registration Desk will be open in the Capitol 1 room located on the ground floor of the hotel. Delegates are to pick up programs and name badges before checking in at the hotel. 18:00 - 18:45 WELCOME RECEPTION and Kickoff celebration of the Foundation

Fighting Blindness 50th Anniversary. Foyer and Patio for the Cumberland Ballroom. 18:45 – 20:30 Foundation Fighting Blindness 50th Anniversary dinner will be in the Cumberland Ballroom. Monday

7 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) Tuesday, Sept. 28, 2021

07:00 - 08:00 Grab and go BREAKFAST in the Nashville Ballroom Foyer and Cumberland Patio. 08:00 - 08:15 Welcoming Remarks – John Ash and Eric Pierce

08:15 - 09:00 Keynote Lecture I - Michael Chiang, Director, National Eye Institute Tuesday Artificial intelligence for clinical care and research: promises and challenges Introduction by: Eric Pierce

09:00 - 10:00 Platform Session I: Mechanisms of Degeneration Moderators: Kinga Bujakowska, Ezequiel Salido 09:00 - 09:30 Shiming Chen, Yiqiao , Chi Sun, Xiaodong , Philip Ruzycki Understanding pathogenesis of dominant mutations in the CRX homeodomain

09:30 - 10:00 Alexander Dizhoor Molecular and cellular mechanisms of retinal degeneration 3 (RD3) protein in Leber’s congenital amaurosis 12 (LCA12) and its possible involvement in a dominant GUCY2D retinal dystrophy

10:00 - 10:30 COFFEE BREAK

10:30 – 11:50 Platform Session II: Mechanisms of Degeneration (Continued) Moderators: Kinga Bujakowska, Ezequiel Salido

10:30 - 11:00 Janet Sparrow, Haejin Kim, A Vitamin A Aldehyde-Taurine Adduct in Retina

11:00 - 11:30 Dorota Skowronska-Krawczyk Physiological role of age-related changes in polyunsaturated fatty acids content in photoreceptor membranes.

11:30 - 11:50 Ekaterina Lobanova, Martin-Paul Agbaga, Jessica Ellis, Vadim Arshavsky, Stella Finkelstein Acsl6 is a major regulator of DHA pool in the retina

11:50 - 13:05 LUNCH Cumberland Ballroom

13:05 – 14:55 Platform Session III: Human Retinal Degeneration Moderators: Lea Bennett, Rachel Huckfeldt

13:05 - 13:35 Jason Comander, Erin Hennessey

8 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) A pharmacogenetic approach for characterizing variants of unknown significance: assaying known and novel rhodopsin variants

13:35 - 14:05 Jacque Duncan, Wendi Liang, Jenna Cava, Jessica Wong, Michel Michaelides, Angelos Kalitzeos, Isabelle Audo, Kate Grieve, Nat Norberg, Michel Paques, Allison Ayala, Travis Porco, Joseph Carroll Adaptive optics scanning laser ophthalmoscopy (AOSLO) measures in USH2A- related retinal degeneration

Tuesday 14:05 – 14:35 Alessandro Iannaccone, Oleg Alekseev, Grazyna Adamus Recognizing, characterizing, and managing inflammation in inherited retinal degenerations: Treatable, visually impactful complications beyond cystoid macular edema

14:35 – 14:55 Rinki Ratnapriya Leveraging transcriptomics for characterization of disease heterogeneity in Age- related Macular Degeneration

14:55 – 15:25 COFFEE BREAK 15:25 – 16:10 Keynote Lecture II: Douglas Wallace Title: Mitochondria and the etiology of neuro-ophthalmological and neuro-psychiatric diseases Introduction by: John Ash

16:10 - 17:40 Platform Session IV: Metabolism and Retinal Degeneration Moderators: Visvanathan Ramamurthy and Emily Brown

16:10 - 16:40 Michael Landowski, Akihiro Ikeda, Sakae Ikeda, Lucas Moyer, Samuel Grindel A Novel Function of Transmembrane Protein 135 in Retinal Peroxisomal Homeostasis

16:40 – 17:10 Aparna Lakkaraju, Nilsa La Cunza, Xuan , Colin Germer, Thushara Thamban Mitochondria-mediated protein phase separation as a driver of RPE dysfunction in AMD

17:10 - 17:40 Xian-Jie , Kun Do Rhee, Thao Nguyen, -Jie Wang Fate mapping faithfully identifies bona fide microglia in the degenerating retina

18:00 – 19:30 DINNER (In the Cumberland Ballroom and Patio) 20:00 - 22:30 POSTERS (In the Nashville Ballroom)

9 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) Wednesday, Sept 29, 2021 07:00 - 08:00 Grab and go BREAKFAST in the Nashville Ballroom Foyer and

Cumberland Patio. 08:00 – 08:05 Morning announcements and Introduction

08:05 – 10:05 Platform Session V: Clinical Trials Moderators: Jacque Duncan, Paul Seiving

08:05 - 08:35 David Birch, Isabelle Audo, Kanishka Jayasundera, Isabelle Meunier, Rachel Huckfeldt, Robert Koenekoop, Paul Yang, Eduard de Cock, Ellen Dahler, John Taylor, Wednesday Naveed Shams, Aniz Girach Results of a first in human trial assessing QR-421a RNA therapy in due to mutations in USH2A (Stellar trial)

08:35 - 09:05 Rachel Huckfeldt, Jason Comander, Mark Pennesi, Paul Yang, Andreas Lauer, Robert Sisk, Edward Averbukh, Eyal Banin, Ninel Gregori, Janet Davis, Christine Kay, Matt Feinsod, Byron Lam, Bright Ashimatey Twelve-month Findings from Two Phase 1/2 Clinical Trials of Subretinal for Achromatopsia

09:05 – 09:35 Mark Pennesi, Monica Roy, Eric Pierce, Byron Lam, Kanishka Jayasundera, Rene Myers, Swati Mukherjee, Edmond Chen, David Kleinman, Lisa Michaels BRILLIANCE: A Phase 1/2 Single Ascending Dose Study of EDIT-101, an in vivo CRISPR Gene Editing Therapy, in CEP290-Related Retinal Degeneration

09:35 – 10:05 Paul Yang, Andreas Lauer, Mark Pennesi, David Birch, Rand Spencer, Robert Sisk, Alessandro Iannaccone, Matt Feinsod, Mauro Goldbaum Twelve Month Analysis of Macular Structure using Optical Coherence Tomography (OCT) from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa

10:05 - 10:35 COFFEE BREAK

10:35 – 11:20 Keynote Lecture III: David Gamm Ultrathin Micromolded 3D Scaffolds for Outer Retina Reconstruction Introduction by: Cathy Bowes Rickman

11:20 - 12:10 Platform Session VI: RPE Moderators: Michael Klingeborn, Rinki Ratnapriya

11:20 - 11:50 Emeline Nandrot, Julie Enderlin, Salomé Rety, Quentin Rieu, Sebastien Augustin, Caroline Nous, Christophe Roubeix, Solène Roux, Florian Sennlaub, Ira Tabas

10 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) Retinal atrophy phenotypes associated with light sensitivity and inflammation in the new MerTK-cleavage resistant mouse model

11:50 - 12:20 Goldis Malek

Aging associated decrease in NURR1 expression regulates the retinal pigment epithelial and age-related macular degeneration phenotype 12:20 - 13:35 LUNCH Cumberland Ballroom 13:35 - 14:15 Platform Session VII: RPE continued Moderators: Michael Klingeborn, Rinki Ratnapriya

Wednesday 13:35 – 13:55 Daniel Hass, Abbi Engel, Jennifer Chao, James Hurley Inhibiting Acetyl CoA Carboxylase Rescues RPE Structure and Enhances Fatty Acid Oxidation

13:55 - 14:15 Mallika Valapala, Hsuan-Yeh , Manas Biswal Restoration of lysosomal function in the retinal pigment epithelial cells (RPE) from an animal model of Stargardt disease (STGD).

14:15 – 15:15 Platform Session VIII: Photoreceptor Drug Therapies Moderators: Shiming Chen, Abigail Fahim

14:15 - 14:45 Jonathan , Heike Kroeger, Julia Grandjean, Wei-Chieh Jerry Chiang, Daphne Bindels, Rebecca Mastey, Jennifer Okalova, Amanda Nguyen, Evan Powers, Jeffery Kelly, Neil Grimsey, Michel Michaelides, Joseph Carroll, Luke Wiseman Small Molecule Proteostasis Compounds Promote Cone Photoreceptor Growth In Achromatopsia Patient Retinal Organoids

14:45 - 15:15 Francois Paquet-Durand, Wadood Haq, Akanksha Roy, Alexandra Fachinger, Andreas rentsch, Frank Schwede, Alexandra Fachinger, John Groten, Arianna Tolone The novel PKG inhibitor CN238 provides multi-level functional neuroprotection of photoreceptors and retinal ganglion cells. 15:15 – 15:45 COFFEE BREAK 15:45 - 17:35 Platform Session IX: Photoreceptors Moderators: Shiela Baker, Jillian Pearring

15:45 - 16:15 Xi- , Fan Yang, Hongei Thyroid hormone signaling and cone/retinal degeneration

16:15 - 16:45 Christin Hanke-Gogokhia, Stella Finkelstein, Mikael Klingeborn, Jonathan Demb, Vadim Arshavsky Deletion of dynamin-1 and -3 impairs the structure and function of mouse rod photoreceptor synaptic terminals

11 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.)

16:45 - 17:15 Glenn Lobo, Rakesh Radhakrishnan, Venkateshwara Dronamraju, Hans-Joachim Knolker, Sandra Montezuma, Erik van Kuijk Photodegradation of retinal bisretinoids in mouse models: Implications for

macular degeneration

17:15 – 17:35 Peter Quinn, Bruna Costa, Alexandra Fehnel, Nicholas Nolan, Li, Stephen Tsang Modeling CRB1 RP and LCA using patient and CRISPR-Cas9 edited iPSC-Derived Retinal Organoids

Wednesday

18:00 - 19:30 DINNER (In the Cumberland Ballroom and Patio)

20:00 - 22:30 POSTERS (In the Nashville Ballroom)

12 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) Thursday, September 30, 2021

Excursion day. NO formal meetings or presentations. Dinner as arranged by participants.

Thursday

13 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) Friday, October 1, 2021

07:00 - 08:00 Grab and go BREAKFAST in the Nashville Ballroom Foyer and Cumberland Patio. 08:00 – 08:45 Keynote Lecture IV: Valeria Canto-Soler Title: Human iPSC-derived 3D retinal tissue for stem cell based

therapies for retinal degenerative diseases Friday Introduction by Robert E. Anderson

08:45 - 09:45 Platform Session X: AMD Moderators: Glenn Lobo, Sheldon Rowan

08:45 – 09:15 Brian McKay, Anna Figueroa, Nicole Congrove, Brandon Good, Dorothy Tung Decoding Race and AMD: GPR143 Activity is the Key

09:15 – 09:45 Baerbel Rohrer, Nathaniel Parsons, Balasubramaniam Annamalai, Crystal Nicholson, Elisabeth Obert, Bryan Jones, Andrew Dick Peptide-based immunotherapy against oxidized elastin ameliorates pathology in mouse model of smoke-induced ocular injury

09:45 – 10:15 COFFEE BREAK

10:15 – 11:55 Platform Session XI: AMD (Continued) Moderators: Glenn Lobo, Sheldon Rowan

10:15 - 10:45 Kevin Schey, David Anderson, Ankita Kotnala, Jarod Fincher, Jeffrey Messinger, Nathan Patterson, Jeffrey Spraggins, Christine Curcio Lipid Composition of Drusen and Subretinal Drusenoid Deposits in Human Donor Eyes by Imaging Mass Spectrometry

10:45 - 11:05 Michelle Grunin, Sarah de Jong, Anneke den Hollander, Ellen Palmer, Bowen Jin, David Rinker, Christopher Moth, John Capra, Jonathan Haines, William Bush, International Age-Related Macular Degeneration Consortium Spatial modeling of variants in complement genes associated with age-related macular degeneration

11:05 – 11:35 Navdeep Gogna, Lillian Hyde, Gayle Collin, Lisa Stone, Wanda Hicks, Patsy Nishina Characterization of a novel humanized mouse model of AMD, bearing the ARMS2A69S risk allele, for identification of early biomarkers of disease development and progression

11:35 – 11:55 Cody Fisher, Adam Shaaeli, Mara C Ebeling, Sandra R Montezuma, and Deborah A Ferrington Quantification of mKeima-Mito in Primary RPE: Investigating Mitophagy in Age- Related Macular Degeneration

14 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.)

11:55 - 13:10 LUNCH Cumberland Ballroom 13:30 – 15:00

13:10 – 15:00 Platform Session XII: Gene Therapy Moderators: Jason Comander, Miguel Flores-Bellver

Friday 13:10 - 13:40 John Flannery, Antonia Stefanov, Meike Visel Optogenetic vision restoration targeting ON bipolar cells in mouse models of retinal degeneration

13:40 - 14:10 Rob Collin, Frans Cremers, Carel Hoyng, Lonneke Duijkers, Alejandro Garanto. Splicing modulation therapy for inherited retinal diseases

14:10 – 14:30 Archana Jalligampala, Jennifer Noel, William Hauswirth, Michael Massengill, Alfred Lewin, Chulbul Ahmed, Maureen McCall Binocluar Improvement of Rod Isolated Function Following Monocular Subretinal Injection of Adeno-Associated Virus (AAV) in a Transgenic Swine Model of Autosomal Dominant Retinitis Pigmentosa- A mutation independent gene therapy approach

14:30 – 15:00 Jerome Roger, Elodie-Kim Grellier, Sophie Lourdel, Muriel Perron CRX gene therapy targeting mouse models of dominant CRX-associated retinopathies and beyond

15:00 – 15:30 COFFEE BREAK

15:30 – 16:50 Platform Session XIII: Gene Therapy (continued) Moderators: Jason Comander, Miguel Flores-Bellver

15:30 – 16:00 Daniel Murphy, Joe Corbo Acute Nr2e3 knockout as a novel therapy for photoreceptor degeneration

16:00 – 16:30 - , Xiaojie Ma, Diego Fajardo, Ping , Ekaterina Lobanova, Shannon Boye, Wolfgang Baehr, William Hauswirth Gene Therapy in Opn1mw-/-/sw-/- Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations 16:30 – 16:50 Bilge Ozturk, Molly Johnson, Michael Kleyman, Leah Byrne, John Flannery, William Beltran, William Stauffer, Meike Visel, Serhan Turunc, Andreas Pfenning scAAVengr: Single-cell transcriptome-based quantification of engineered AAVs in non-human primate retina

16:50 – 17:15 Welcome to RD2023 – Cathy Bowes Rickman/ Christian Grimm

19:30 - 22:30 GALA DINNER (In the Cumberland Ballroom and Patio) 15 Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.)

Saturday, October 2, 2021

09:00 - 11:00 DEPART Saturday

16 Posters

(Note: Presenting authors are underlined. Travel Awardees are in bold.)

In person posters. Poster Dimensions: The maximum dimensions of each poster are 4 feet wide by 5 feet tall

Poster setup: All posters should be set up in the back of the conference room in the Nashville Ballroom after registration beginning on Monday, September 27th. Posters must be up before the first break on Tuesday September 28th. Poster removal: Posters will be displayed all week and should be removed at the end of the platform session on Friday, October 1st. Poster Schedule: Posters will be presented on Tuesday and Wednesday evenings between 8:00 and 10:30 pm. On Tuesday evening, presenting authors of an ODD numbered poster should be available in front of the poster between 8:00 and 9:15 pm. On Wednesday evening Authors of an EVEN numbered poster should be at their poster between 8:00 and 9:15 pm.

Below are the in-person posters to be presented in Nashville. Exosomes IP 4. Mikael Klingeborn, Catherine Bowes IP 1. Miguel Flores-Bellver, S. Patricia Rickman, Dan Stamer, Belinda Hernandez, Becerra, German Michelis, Jason Mighty, Daniel Grigsby, Una Kelly, Nikolai Skiba, Silvia Aparicio-Domingo, Li, Hannah Marybeth Groelle, Ping Tse, Trevor Cobb, Maria Valeria Canto-Soler, Stephen Gonzalez, Garth Devlin, TeddiJo Watkins, Redenti, Jing Zhou, Shi, Christine Aravind Asokan, Tylor Lewis. Coughlan, Andrew Goodspeed, Soeren Novel Eye- and Liver-Specific Exosome Heissel, Patricia Lenhart. Tags for Exosome Detection and Isolation Exosomes and microvesicles released by from Blood human retinal pigment epithelium mediate increased polarized secretion of drusen proteins in response to AMD stressors Gene Editing IP 5. Bruna Costa, Yi-Ting Tsai, Alexander IP 2. Heran Getachew, Sudeep Mehrotra, Sousa, Yao Li, David , Stephen Tsang, Daniela Pignatta, Eric Pierce, Rosario Peter Quinn. Fernandez Godino . Development of a prime editing strategy to Extracellular Vesicles as Biomarkers of treat mutations in the Crumbs homologue-1 Retinal Degeneration (CRB1) gene IP 3. Belinda Hernandez. IP 6. Russell Mellen, Kevin McCullough, Chronic Oxidative Stress in Primary Sanford Boye, Shannon Boye, Diego Fajardo, Retinal Pigmented Epithelium Monolayers Kaitlyn Calabro, Sean Crosson. Increases Basolateral Exosome Release and Optimization of an AAV-CRISPR/ Cas9 Changes Both Exosome and Extracellular gene editing strategy for treatment of Matrix Proteomes GUCY2D-associated cone rod dystrophy (CORD6)

Posters

IP 7. Nicholas Nolan, Stephen Tsang, Inherited Retinal Degeneration Cohort with Xuan Cui. the Mendelian Analysis Toolkit (MATK) Therapeutic Editing of Rod Glycolysis IP 16. Salvatore Caruso, Stephen Tsang, Rescues Retinal Degeneration Bruna Costa, Peter Quinn, Chia-Hua . CRB1 Isoform Diversity in the Human Retina Gene Therapy IP 8. Kaitlyn Calabro, Sanford Boye, Diego IP 17. jinghua Chen, Kyle Fallgatter, Fajardo, Sean Crosson, Shannon Boye. Elizabeth Dawson, Jessica Yang, Richard Optimizing the safety and efficiency of dual Artola, Xinguang Chen. AAV-based treatments for MYO7A Usher Correlations between Baseline Spectral- syndrome (USH1B) in Myo7a-/- mice. Domain OCT Measurements and Visual Acuity Change in Patients with Retinitis IP 9. Xinye Qian. Pigmentosa after One Year Follow-up AAV8-mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a IP 18. Heather Heitkotter, Erica Woertz, Tlcd3b-/- Mouse Model Jenna Cava, Mina Gaffney, Iniya Adhan, Robert Cooper, Emily Patterson, Joseph IP 10. Chi Sun, Shiming Chen. Carroll. Evaluation of a gene augmentation strategy Assessing rod photoreceptor topography in for treating CRX-associated retinopathies albinism IP 11. Zhouhuan Xi, Abhishek Vats, Jose- IP 19. Ankita Kotnala, David Anderson, Alain Sahel, Yuanyuan Chen, Leah Byrne. Jeffrey Messinger, Christine Curcio, Kevin Gene augmentation prevents retinal Schey. degeneration in CRISPR/Cas9-based mouse Untargeted lipidomic profiling of aged models of PRPF31 retinitis pigmentosa human retina with and without age-related IP 12. Yunlu Xue, Constance Cepko. macular degeneration (AMD) AAV-Txnip prolongs cone survival and IP 20. Giulia Righetti, Christoph Braun, vision in mouse models of retinitis Katarina Stingl, Krunoslav Stingl, Melanie pigmentosa Kempf. Evaluation of oscillatory potentials in

achromatopsia and blue cone Human Retinal Degeneration monochromacy IP 13. Fatima Abbas, Anne Hanneken, Frans IP 21. Riccardo Sangermano, Iris Deitch, Vinberg. Virginie Peter, Rola Ba-Abbad, Emily Place, Light responses of the rod and cone Erin Zampaglione, Naomi Wagner, Anne photoreceptors in the macular and Fulton, Luisa Coutinho-Santos, Boris Rosin, peripheral regions of the human retina Vincent Dunet, Ala'a AlTalbishi, Eyal Banin, IP 14. Lea Bennett. Ana,Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Inherited Retinal Disease, Dominant Optic Michaelides, Tamar Ben-Yosef, Eric Pierce, Atrophy, or Pentosan Polysulfate Carlo Rivolta, Andrew Webster, Gavin Arno, Retinopathy? Dror Sharon, Rachel Huckfeldt, Kinga IP 15. Kinga Bujakowska, Erin Zampaglione, Bujakowska.. Mathew Maher, Emily Place, Eric Pierce. Broadening INPP5E phenotypic spectrum: The Importance of Automation in Genetic detection of rare variants in syndromic and Diagnosis: Lessons from Analyzing an non-syndromic IRD

18 Posters

IP 30. Yun Le. VEGF as a direct functional regulator of Inflammation photoreceptors and its potential role in IP 22. Mayur Choudhary, Goldis Malek. regulating photoreceptor function in Aryl hydrocarbon receptor: potential link hypoxic retinal diseases between autophagy and inflammation in retinal pigment epithelial (RPE) cells. IP 31. Jillian Pearring, Amanda Travis. The need to cycle: dominant negative IP 23. Eric Enyong, Martin-Paul Agbaga, mutations in the small GTPase Arl3 lead to Michael Elliott, Jami Gurley, Yeboah Gyening, rod nuclear migration defects Paul Pilch. Non-caveolar caveolin-1 in MIO-M1 Müller IP 32. Mala Upadhyay, Caroline Milliner, glia enhance LPS-induced IL-6 response Vera Bonilha. Cell death mechanisms in response to low- IP 24. Chas Pfeifer. dose sodium iodate differs in Retinal Apoptotic debris clearance by activated pigment epithelium and retina microglia during early-stage diabetic retinopathy in the mouse Mechanisms of degeneration IP 25. Chen Yu, Daniel Saban. IP 33. David Anderson. A General Microglial Response Restricts Analysis of Retinal Degeneration in a Leber Outer Retinal Degeneration Congenital Amaurosis Mouse Model Using High Spatial Resolution MALDI-Imaging Mass Spectrometry Lipid metabolism in degeneration IP 34. Silke Becker, Frans Vinberg. IP 26. Yeboah Gyening, Richard Brush, Photoreceptor and ON-bipolar cell function Madison Tytanic, Martin-Paul Agbaga, Robert Anderson. in retinal disease models associated with Deciphering ELOVL4 mutant activity in hypoxia retinal degeneration IP 27. Sree Indrani Motipally. Mechanisms of degeneration- Absence of PRCD leads to dysregulation in Animal models lipid homeostasis resulting in IP 35. Prakadeeswari Gopalakrishnan, disorganization of photoreceptor outer Chen Matsevich, Eyal Banin, Dror Sharon, segment structure Avigail Beryozkin, Alexey Obolensky. IP 28. Brandon Anderson, Joseph Yano, Relatively Slow Retinal Degeneration Ahab Alnemri, Brent Bell, Ying , Timothy Process in a Fam161a Knock-in (KI) Mouse Lee, Joshua Dunaief. Model for the Human Nonsense Mutation The retina’s acute response to sodium p.Arg523* iodate and sodium iodate’s potential IP 36. Siddhant Gupte, Kaitlyn Calabro, induction of ferroptosis Hangning Zhang, James Peterson, Cathleen IP 29. Michael Iuvone, Gianluca Tosini, Lutz, Sanford Boye, Shannon Boye. Polina Lyuboslavsky, Jana Sellers. Generating a novel mouse model to study Sensitivity to light-induced retinal the retinal phenotype of Friedreich’s ataxia. degeneration is modulated by dopamine IP 37. Stephanie Hagstrom. and circadian rhythms TULP1 Missense Mutations Cause Variable Retinal Phenotypes

19 Posters

IP 38. TJ Hollingsworth, Anand Swaroop, IP 45. Emily Brown, Eric Pierce, Jianhai , Emily Chew, David Ashbrook, Xiangdi Wang, Daniela Pignatta, Sudeep Mehrotra, Michael Raven Simpson, William White, Robert Scandura, Scott Greenwald. Williams, Monica Jablonski. Reduced Nuclear NAD+ Drives DNA Using systems to mine the BXD Damage and Subsequent Immune family of mice for spontaneous high fidelity Activation in the Retina natural models of retinal disease IP 46. Tae Jun Lee, Yo Sasaki, Jeffrey IP 39. Shivangi Inamdar, Colten Lankford, Milbrandt, Rajendra Apte. Deepak Poria, Joseph Laird, Vladimir Kefalov, SARM1 Inhibition Protects Photoreceptors Eduardo Solessio, Sheila Baker. from NMNAT1-related Retinal Role of the silent Kv8.2 voltage-gated Degeneration potassium channel protein in KCNV2 IP 47. Freya Mowat, Claire Campbell, Paul retinopathy Lyons, Tetsuya Takimoto, Haley Edwards. IP 40. Daniella Munezero, Ezequiel Salido, PGC1a haploinsufficiency impairs retinal Visvanathan Ramamurthy. function with aging HSP90α isoform is essential for rod photoreceptor function and viability IP 41. Rebecca Pfeiffer, Jeebika Dahal, Neuroprotection James Anderson, Crystal Sigulinsky, Olivia IP 48. Shannon Barwick, Sylvia Smith, Jing Haddadin, -Hui Yang, Alexis Houser, Wang, Haiyan . Jessica Garcia, Robert Marc, Bryan Jones. Activation of Sigma1 Receptor (Sig1R) The Aii Amacrine Cell in a attenuates degeneration in the RhoP23H/+ Pathoconnectome of Early Retinal mouse model of autosomal dominant Remodeling retinitis pigmentosa (adRP) IP 42. Sriganesh Ramachandra Rao, IP 49. Michael Hayes, Marian Renwick, John Steven Pittler, Steven Fliesler. Hulleman. Leveraging a fluorescence reporter mouse Enhancing Autophagy to Treat Stargardt line in the generation and characterization Disease of tractable, conditional knockout (KO) IP 50. Arunkumar Ranganathan, Aruna models of RP59 Gorusupudi, Binxing Li, David Blount, IP 43. Kenya Wilcots. Uzoamaka Nwagbo, Hye Jin Kim, Janet Photoreceptor Degeneration in Melanopsin Sparrow, Paul Bernstein. KO Mice Macular carotenoids Lutein and Zeaxanthin Reduce A2E and iso-A2E IP 44. Wenjing , Yusuke Takahashi, Levels and Improve Visual Performance in Gennadiy Moiseyev, Henry Shin, Ma, Abca4-/-/Bco2-/- Double Knockout Mice Jian-Xing Ma. The interplay of environmental luminance IP 51. Sheldon Rowan, Sarah Francisco, and genetics in the hereditary retinal Chia- Tsai, Kathryn Barger, Donald dystrophy induced by the dominant- Smith, Chengxin Zhou, Eleftherios Paschalis, negative RPE65 mutation. Allen Taylor, Kelsey Smith. Dietary and experimental manipulation of gut microbiota alters age-related retinal Mechanisms of degeneration- degeneration metabolism IP 52. Faiza Tahia, Jerome Cole II, Aram Bejnood, Bano Qaladize, Nawajes Mandal. 20 Posters

Evaluation of sphingolipid biosynthetic inhibitor, SPT-I, to prevent retinal degeneration. RPE IP 60. Antonio Escudero Paniagua, Harjas IP 53. Yixiao Wang, Ekaterina Lobanova. Sabharwal, Kausalya Kethu, David Williams, Tsc2 knockout reduces Ubiquitin- Andrew . Proteasome System insufficiency and delays Revisiting POS ingestion after 45 years: photoreceptor loss in a mouse model of the morning POS phagosome density peak Retinitis Pigmentosa represents a decreased maturation rate IP 54. Felix Yemanyi, Chi-Hsiu Liu, Shuo rather than a maximal rate of ingestion. , Alexandra Blomfield, Zhongjie , IP 61. Marlyn Langform, Laura Perilloux, A. Jing Chen. Scott Kavanaugh. Activation of nuclear receptor REV-ERBα Inhibition of bacterial peptidoglycan slows retinal degeneration in rd10 mice cytopathic activity by retina pigment IP 55. Marika Zuanon, Andrea Brancale, epithelial (ARPE-19) cell NAMAA Mark Young. Detection of functional P2X7 expression in ARPE-19 cells and development of P2X7 Stem cell and Organoid as models of antagonists for the treatment of Aged degeneration Macular Degeneration IP 62. Francisco Diaz-Corrales, Ana Garcia- Delgado, Lourdes Valdes-Sanchez, Berta de la Cerda. Photoreceptors Evaluation of nrf2-/- mice transplanted IP 56. Sheila Baker, Joseph Laird, Colten with iPSC derived RPE obtained from Lankford, Ariel Kopel, Emma Thornburg. heathy donors and AMD patients carrying Cav1.4 dependent synaptic development in the Y402H polymorphism within the CFH an all-cone retina gene. IP 57. Tylor Lewis, Mustafa Makia, Carson IP 63. Abigail Fahim, N Perera, AJ Karoukis, Castillo, Muayyad Al-Ubaidi, Muna Naash, Lisheng Chen, Kecia Feathers, Robin Ali, Vadim Arshavsky. Debra Thompson. Photoreceptor Disc Enclosure Is Tightly Choroideremia iPSC-RPE cells have Controlled by Peripherin-2 increased barrier properties Oligomerization IP 64. Sangeetha Kandoi, Deepak Lamba, IP 58. Ezequiel Salido, Chloe Coulter, Scott Jacque Duncan, Cassandra Martinez. Rhodes. Photoregulin3 attenuates Rhodopsin Interphotoreceptor matrix proteoglycans overexpression in retinal organoids from a IMPG1 and IMPG2 undergoes patient with multiple copies of the RHO intramolecular proteolysis and reveal gene localization interdependency IP 65. Magdalene Seiler, Bin Lin, Yuntian IP 59. Will Spencer, Vadim Arshavsky, Tylor Xue, Juan Martinez-Camarillo, DanHong Zhu, Lewis, Nikolai Skiba, Martha Cady, Nicholas Robert Sims, Bryce McLelland, Gabriel Nistor, Schneider. William Tang, Mark Humayun, Hans Branched actin polymerization initiates disc Keirstead, Andrew Browne, Biju Thomas. morphogenesis and is essential for Transplantation of retinal organoid sheets photoreceptor survival alone or with RPE sheets to rat models of retinal degeneration 21 Posters

IP 70. Dmitri Serjanov, David Hyde, James Twist, Meghan Swantkowski. Regulation of Retinal Regeneration by the Stem cells, regeneration, & Extracellular Matrix Protein Nephronectin development IP 71. Karen Tessmer, Kurth Thomas, IP 66. Marcus Hooper, Thomas Reh. Sylvia Gasparini, Oliver Borsch, Madalena CRISPR activation-mediated expression of Carido, Olivier GOUREAU, Mike Karl, Marius RGC transcription factors cause Ader. mammalian Muller glia to adopt neuronal Optimising human retinal organoid-derived fates. photoreceptor transplantation into mouse models of retinal degeneration IP 67. Wesley Jenkins, Levi Todd, Fred Rieke, Thomas Reh. IP 72. Levi Todd, Thomas Reh, Marcus Regeneration of RGC-like cells in Hooper. mammalian retina with Ascl1, Pou4f2, and Enhancing Muller glia-mediated retinal Isl1 regeneration in the adult mouse retina via combinations of proneural transcription IP 68. Fatimah Matalkah, Bohye Jeong, factors. Visvanathan Ramamurthy, Peter Stoilov. The Musashi family of stem factors is IP 73. Leo Volkov, Joe Corbo, Jeong Sook critical for the survival and function of Kim-Han, Vladimir Kefalov, Deepak Poria. terminally differentiated photoreceptor Regulation of red cone fate by thrb neurons IP 69. Isabella Palazzo, Andy Fischer. Inhibition of NFkB signaling promotes neuron regeneration in the mammalian retina

22 Posters

Virtual posters. All posters (virtual and in person) will be recorded as short (10 minute) talks and will be available for viewing for two weeks, including the week of the meeting and the following week. Attendees will be able to asynchronously interact with speakers via a chat feature. We will have a Virtual Poster Day on Thursday where posters presenters can hold office hours or interact in a community forum during the day. Below are all posters submitted to the RD2021 meeting that will be available on the virtual platform. Note: Presenting authors are underlined; Travel Awardees are shown in bold

Exosomes VP 5. Beatriz Martins, Rosa Fernandes, VP 1. Miguel Flores-Bellver, S. Patricia António Francisco Ambrósio, Teresa Becerra, German Michelis, Jason Mighty, Rodrigues, José Ramalho, Henrique Girão. Silvia Aparicio-Domingo, Kang Li, Hannah Inflammatory extracellular vesicles induce Cobb, Maria Valeria Canto-Soler, Stephen dysfunction of the retinal pigment epithelial Redenti, Jing Zhou, Cui Shi, Christine cells – possible role on the development of Coughlan, Andrew Goodspeed, Soeren age-related macular degeneration Heissel, Patricia Lenhart. Exosomes and microvesicles released by human retinal pigment epithelium mediate Gene Editing increased polarized secretion of drusen VP 6. Bruna Costa, Yi-Ting Tsai, Alexander proteins in response to AMD stressors Sousa, Yao Li, David Liu, Stephen Tsang, Peter Quinn. VP 2. Heran Getachew, Sudeep Mehrotra, Daniela Pignatta, Eric Pierce, Rosario Development of a prime editing strategy to Fernandez Godino . treat mutations in the Crumbs homologue-1 Extracellular Vesicles as Biomarkers of (CRB1) gene Retinal Degeneration VP 7. Pietro De Angeli, Bernd Wissinger, VP 3. Belinda Hernandez. Susanne Kohl, Katarina Stingl, Peggy Reuter. Chronic Oxidative Stress in Primary Retinal CRISPR/Cas9-based rescue of deep-intronic Pigmented Epithelium Monolayers ABCA4 variant c.5197-557G>T in patient- Increases Basolateral Exosome Release and derived photoreceptor precursor cells Changes Both Exosome and Extracellular VP 8. Russell Mellen, Kevin McCullough, Matrix Proteomes Sanford Boye, Shannon Boye, Diego Fajardo, Kaitlyn Calabro, Sean Crosson. Optimization of an AAV-CRISPR/ Cas9 VP 4. Mikael Klingeborn, Catherine Bowes gene editing strategy for treatment of Rickman, Dan Stamer, Belinda Hernandez, GUCY2D-associated cone rod dystrophy Daniel Grigsby, Una Kelly, Nikolai Skiba, (CORD6) Marybeth Groelle, Long Ping Tse, Trevor Gonzalez, Garth Devlin, TeddiJo Watkins, VP 9. Nicholas Nolan, Stephen Tsang, Xuan Aravind Asokan, Tylor Lewis. Cui. Novel Eye- and Liver-Specific Exosome Therapeutic Editing of Rod Glycolysis Tags for Exosome Detection and Isolation Rescues Retinal Degeneration from Blood 23 Posters

Gene Therapy VP 19. Lea Bennett. VP 10. Divya Ail, Deniz Dalkara, Celine Inherited Retinal Disease, Dominant Optic Jaillard, Elena Brazhnikova, Sylvain Fisson, Atrophy, or Pentosan Polysulfate Duohao , Stephane Bertin. Retinopathy? Evaluation of host immune responses to VP 20. Kinga Bujakowska, Erin Zampaglione, intraocular AAV injections in non-human Mathew Maher, Emily Place, Eric Pierce. primates The Importance of Automation in Genetic VP 11. Kaitlyn Calabro, Sanford Boye, Diego Diagnosis: Lessons from Analyzing an Fajardo, Sean Crosson, Shannon Boye. Inherited Retinal Degeneration Cohort with Optimizing the safety and efficiency of dual the Mendelian Analysis Toolkit (MATK) AAV-based treatments for MYO7A Usher VP 21. Salvatore Caruso, Stephen Tsang, syndrome (USH1B) in Myo7a-/- mice. Bruna Costa, Peter Quinn, Chia-Hua Cheng. VP 12. Xinye Qian. CRB1 Isoform Diversity in the Human AAV8-mediated Gene Therapy Rescues Retina Retinal Degeneration Phenotype in a VP 22. jinghua Chen, Kyle Fallgatter, Elizabeth Tlcd3b-/- Mouse Model Dawson, Jessica Yang, Richard Artola, VP 13. Chi Sun, Shiming Chen. Xinguang Chen. Evaluation of a gene augmentation strategy Correlations between Baseline Spectral- for treating CRX-associated retinopathies Domain OCT Measurements and Visual Acuity Change in Patients with Retinitis VP 14. Lea Thiebault, Leveillard Thierry. Pigmentosa after One Year Follow-up SLC16A8 promoter, a Therapeutic Tool for Age-related Macular Degeneration VP 23. Heather Heitkotter, Erica Woertz, Jenna Cava, Mina Gaffney, Iniya Adhan, VP 15. Michael Volkert, Bhubanananda Sahu, Robert Cooper, Emily Patterson, Joseph Nikita Puranik, Laura Moreno-Leon, Wei Carroll. Zhang, Ramesh Periasamy, Hemant Khanna. Assessing rod photoreceptor topography in OXR1 gene therapy reduces oxidative stress albinism and prolongs photoreceptor survival in retinal degeneration. VP 24. Ankita Kotnala, David Anderson, Jeffrey Messinger, Christine Curcio, Kevin VP 16. Zhouhuan Xi, Abhishek Vats, Jose- Schey. Alain Sahel, Yuanyuan Chen, Leah Byrne. Untargeted lipidomic profiling of aged Gene augmentation prevents retinal human retina with and without age-related degeneration in CRISPR/Cas9-based mouse macular degeneration (AMD) models of PRPF31 retinitis pigmentosa VP 25. Yu Liu. VP 17. Yunlu Xue, Constance Cepko. C8orf37 interacts with ciliary protein AAV-Txnip prolongs cone survival and FAM161A vision in mouse models of retinitis pigmentosa VP 26. Birgit Lorenz, Sarah Thiele, Ben Isselmann, Julius Ameln, Jenny Reiniger, Sandrine Künzel, Philipp Herrmann, Markus Preising, Naike Cavriani, Kristina Küpper, Human Retinal Degeneration Frank Holz, Wolf Harmening. VP 18. Fatima Abbas, Anne Hanneken, Frans High-resolution imaging of the outer retina Vinberg. in RPE65 mutation- associated IRDs - Light responses of the rod and cone natural course and therapeutic effects of photoreceptors in the macular and peripheral regions of the human retina

24 Posters

subretinal voretigene neparvovec gene Dual mutational mechanism of a KIZ therapy nonsense variant as the cause of retinitis VP 27. Davide Ortolan, Ruchi Sharma, Volkov pigmentosa Andrei, Arvydas Maminishkis, Kapil Bharti. VP 33. Yiyi Wang, Jacque Duncan, Austin The human retinal pigment epithelium Roorda, William Tuten, Jessica Wong. contains five subpopulations with Retinal Structure and Function in Patients differential disease vulnerability with Enhanced S-Cone Syndrome VP 34. Laura Whelan, Susanne Roosing, Gwyneth Jane Farrar, Frans Cremers, Paul VP 28. Maximilian Pfau, Brett Jeffrey, Marisa Kenna, Clarie-Marie Dhaenens, David Keegan, Boyle, Robert Hufnagel, Ehsan Ullah, Giuliana Silvestri, Niamh Wynne, Carel Hoyng, Catherine Cukras, Laryssa Huryn, Wadih Zein, L. Ingeborgh van den Born, Kirk Stephenson, Brian Brooks. Adrian Dockery, Zeinab Fadaie, Tamar Ben- Photoreceptor Degeneration beyond Yosef, Zelia Corradi, Christian Gilissen, Jordi Ellipsoid Zone Loss and its genetic Corominas, Galuh Astuti, Julia Zhu, Emma determinants in ABCA4-associated Duignan. Retinopathy Whole genome sequencing and whole gene VP 29. Giulia Righetti, Christoph Braun, sequencing of ABCA4 reveal genetic causes Katarina Stingl, Krunoslav Stingl, Melanie for previously unresolved inherited retinal Kempf. diseases. Evaluation of oscillatory potentials in Inflammation achromatopsia and blue cone VP 35. Shyamanga Borooah, Asha Kumari, monochromacy Raul Ayala, Roman Sasik, Juan Carlos VP 30. Riccardo Sangermano, Iris Deitch, Zenteno-Ruiz, Radha Ayyagari. Virginie Peter, Rola Ba-Abbad, Emily Place, Single cell RNA sequencing of retinal Erin Zampaglione, Naomi Wagner, Anne immune cells identifies activation of resident Fulton, Luisa Coutinho-Santos, Boris Rosin, retinal microglia associated with sub-retinal Vincent Dunet, Ala'a AlTalbishi, Eyal Banin, deposits in a model of retinal degeneration Ana,Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel VP 36. Mayur Choudhary, Goldis Malek. Michaelides, Tamar Ben-Yosef, Eric Pierce, Aryl hydrocarbon receptor: potential link Carlo Rivolta, Andrew Webster, Gavin Arno, between autophagy and inflammation in Dror Sharon, Rachel Huckfeldt, Kinga retinal pigment epithelial (RPE) cells. Bujakowska.. VP 37. Eric Enyong, Martin-Paul Agbaga, Broadening INPP5E phenotypic spectrum: Michael Elliott, Jami Gurley, Yeboah Gyening, detection of rare variants in syndromic and Paul Pilch. non-syndromic IRD Non-caveolar caveolin-1 in MIO-M1 Müller VP 31. Maria Solaki, Peggy Reuter, Bernd glia enhance LPS-induced IL-6 response Wissinger, Susanne Kohl. VP 38. Chas Pfeifer. Functional analysis of CNGA3 variants Apoptotic debris clearance by activated associated with achromatopsia using an microglia during early-stage diabetic aequorin-based bioassay retinopathy in the mouse VP 32. Yogapriya Sundaresan, Eyal Banin, VP 39. Alonso Sánchez-Cruz, Enrique de la Dror Sharon. Rosa, Catalina Hernández-Sánchez, Ignacio Lizasoain, Pedro de la Villa, Andrea C. Méndez.

25 Posters

Tlr2 gene deletion delays retinal Glycative stress compromises p62-selective degeneration in two genetically distinct autophagy and retinal Cx43 turnover mouse models of retinitis pigmentosa. VP 48. Michael Iuvone, Gianluca Tosini, Polina VP 40. Ioanna Tsioti. Lyuboslavsky, Jana Sellers. Systemic lipopolysaccharide exposure Sensitivity to light-induced retinal triggers Tlr4-dependent inflammatory degeneration is modulated by dopamine and responses in the mouse retina in vivo circadian rhythms VP 41. Chen Yu, Daniel Saban. VP 49. Ke Jiang, Anupam Mondal, Linn A General Microglial Response Restricts Gieser, Jacob Nellissery, Anand Swaroop. Outer Retinal Degeneration Beginning of the end: Early cellular events before photoreceptor cell death in a mouse model of CEP290-LCA

VP 50. Duygu Karademir, Lynn Ebner, Lipid metabolism in degeneration Christian Grimm, Vyara Todorova, Marijana VP 42. Yeboah Gyening, Richard Brush, Samardzija. Madison Tytanic, Martin-Paul Agbaga, Robert Single-cell RNA sequencing of the retina in a Anderson. model of retinitis pigmentosa reveals early Deciphering ELOVL4 mutant activity in responses to degeneration in rods and cones retinal degeneration VP 51. Yun Le. VP 43. Sree Indrani Motipally. VEGF as a direct functional regulator of Absence of PRCD leads to dysregulation in photoreceptors and its potential role in lipid homeostasis resulting in regulating photoreceptor function in disorganization of photoreceptor outer hypoxic retinal diseases segment structure VP 52. Jillian Pearring, Amanda Travis. VP 44. Florian Peters, David Grubich Atac, The need to cycle: dominant negative Lynn Ebner, Wolfgang Berger, Anneke den mutations in the small GTPase Arl3 lead to Hollander, Christian Grimm. rod nuclear migration defects ABCA1 downregulation in iPSC-derived VP 53. Iskalen Topcu Okan, Albert Neutzner, RPE cells impaired cholesterol efflux Corina Kohler, Cavit Agca, Stephan Frank, VP 45. Yi-Ting Tsai, Stephen Tsang. Lisa Restelli. Impaired cholesterol efflux in retinal RGC Axonal Transport Defect Is An Early pigment epithelium of individuals with Indicator For OPA1 Haploinsufficiency juvenile macular degeneration VP 54. Mala Upadhyay, Caroline Milliner, Vera VP 46. Brandon Anderson, Joseph Yano, Bonilha. Ahab Alnemri, Brent Bell, Ying Song, Timothy Cell death mechanisms in response to low- Lee, Joshua Dunaief. dose sodium iodate differs in Retinal The retina’s acute response to sodium iodate pigment epithelium and retina and sodium iodate’s potential induction of VP 55. Yvette Wooff, Adrian Cioanca, Joshua ferroptosis Chu-Tan, Riccardo Natoli. VP 47. Eloy Bejarano Fernandez, Allen Taylor, Reduced, Reuse, Recycle: Replenishing Sheldon Rowan, Gemma Aragones, Sarah extracellular vesicles lost through Francisco, Komatsu Masaaki, Shun degeneration-induced depletion as a novel Kageyama.

26 Posters

therapy for the treatment of Age-related Raven Simpson, William White, Robert macular degeneration. Williams, Monica Jablonski. Using systems genetics to mine the BXD Mechanisms of degeneration family of mice for spontaneous high fidelity VP 56. David Anderson. natural models of retinal disease Analysis of Retinal Degeneration in a Leber VP 64. Shivangi Inamdar, Colten Lankford, Congenital Amaurosis Mouse Model Using Deepak Poria, Joseph Laird, Vladimir Kefalov, High Spatial Resolution MALDI-Imaging Eduardo Solessio, Sheila Baker. Mass Spectrometry Role of the silent Kv8.2 voltage-gated VP 57. Silke Becker, Frans Vinberg. potassium channel protein in KCNV2 Photoreceptor and ON-bipolar cell function retinopathy in retinal disease models associated with VP 65. Daniella Munezero, Ezequiel Salido, hypoxia Visvanathan Ramamurthy. VP 58. Andrea Dillinger, Nadine Bauer, HSP90α isoform is essential for rod Roswitha Seitz, Rudolf Fuchshofer, Ernst photoreceptor function and viability Tamm. Versican GAG-α domain deficiency causes rosette formation and detachment of the VP 66. Martha Neuringer, Jon Hennebold, Carol Hanna, Fernanda de Carvalho, Cathy sensory retina in the mouse eye Ramsey, Junghyun Ryu, Sam Peterson, Betsy Ferguson, Norma Schroeder, Lauren Renner. Rhesus macaque model of Bardet-Biedl Mechanisms of degeneration- syndrome: Developmental course in the first Animal models year VP 59. Prakadeeswari Gopalakrishnan, Chen Matsevich, Eyal Banin, Dror Sharon, VP 67. Rebecca Pfeiffer, Jeebika Dahal, Avigail Beryozkin, Alexey Obolensky. James Anderson, Crystal Sigulinsky, Olivia Relatively Slow Retinal Degeneration Haddadin, Jia-Hui Yang, Alexis Houser, Jessica Garcia, Robert Marc, Bryan Jones. Process in a Fam161a Knock-in (KI) Mouse The Aii Amacrine Cell in a Model for the Human Nonsense Mutation Pathoconnectome of Early Retinal p.Arg523* Remodeling VP 60. Siddhant Gupte, Kaitlyn Calabro, VP 68. Sriganesh Ramachandra Rao, Steven Hangning Zhang, James Peterson, Cathleen Pittler, Steven Fliesler. Lutz, Sanford Boye, Shannon Boye. Generating a novel mouse model to study Leveraging a fluorescence reporter mouse line in the generation and characterization the retinal phenotype of Friedreich’s ataxia. of tractable, conditional knockout (KO) VP 61. Stephanie Hagstrom. models of RP59 TULP1 Missense Mutations Cause Variable Retinal Phenotypes VP 69. Kenya Wilcots. Photoreceptor Degeneration in Melanopsin VP 62. John Han, Nancy Philp, Leveillard KO Mice Thierry. Characterization of the Retinal Pigment VP 70. Wenjing Wu, Yusuke Takahashi, Epithelium of P23H Mouse Model. Gennadiy Moiseyev, Henry Shin, Xiang Ma, Jian-Xing Ma. VP 63. TJ Hollingsworth, Anand Swaroop, The interplay of environmental luminance Emily Chew, David Ashbrook, Xiangdi Wang, and genetics in the hereditary retinal

27 Posters

dystrophy induced by the dominant-negative Role of metabolic dysfunction in TNFα- RPE65 mutation. induced inflammation in retinal pigment epithelial cells VP 78. Elora Vanoni, Abdallah Hamieh, Mechanisms of degeneration- Géraldine Millet-Puel, Thierry Leveillard, metabolism Emeline Nandrot. VP 71. Emily Brown, Eric Pierce, Jianhai Du, Metabolic defects and circadian clock Daniela Pignatta, Sudeep Mehrotra, Michael alterations in Prpf31-mutant mice. Scandura, Scott Greenwald. Reduced Nuclear NAD+ Drives DNA Damage and Subsequent Immune Activation Neuroprotection in the Retina VP 79. Cavit Agca, Mehri Ahmadian, Iskalen VP 72. Yiyi Chen, Francois Paquet-Durand. Topcu Okan, Yesim Tutuncu, Halit Altay. Evidence for a rod-to-cone lactate shuttle in Regulation Of Neuroprotective Factors In the mammalian retina Muller Glia Using Artificial Transcription Factors And Generation of A Reporter Mouse Line For Photoreceptor Degeneration VP 73. Allison Grenell, Charandeep Singh, VP 80. Shannon Barwick, Sylvia Smith, Jing Bela Anand-Apte, Jianhai Du, Henri Wang, Haiyan Xiao. Bruengraber, Yekai Wang. Activation of Sigma1 Receptor (Sig1R) Altered RPE matrix in Sorsby Fundus attenuates degeneration in the RhoP23H/+ Dystrophy leads to metabolic dysfunction mouse model of autosomal dominant VP 74. Tae Jun Lee, Yo Sasaki, Jeffrey retinitis pigmentosa (adRP) Milbrandt, Rajendra Apte. VP 81. Alexandra Bernardo-Colón, S. Becerra, SARM1 Inhibition Protects Photoreceptors Lijin Dong. from NMNAT1-related Retinal CRISPR-derived Pnpla2 knock out mouse Degeneration model for retinal function: PEDF-R plays an VP 75. Anupam Mondal, Ke Jiang, Yogita important role in the photoreceptors Adlakha, Jessica Gumerson, Angel Aponte, VP 82. Avigail Beryozkin, Ananya Samanta, Linn Gieser, Kim Jung-Woong, Alexis Boleda, Prakadeeswari Gopalakrishnan, Samer Matthew Brooks, Jacob Nellissery, Donald Khateb, Eyal Banin, Uwe Wolfrum, Kerstin Fox, Robert Balaban, Rual Covian Garcia, Nagel-Wolfrum, Dror Sharon. Anand Swaroop. Ataluren-mediated read-through of a Multi-omics analyses identify altered nonsense mutation in the FAM161A gene metabolism and mitochondrial defects as restores protein expression and ciliogenesis early steps preceding rod photoreceptor cell in patients` fibroblasts death in Pde6brd1/rd1 retina VP 83. Manas Biswal, Alfred Lewin, Glenn VP 76. Freya Mowat, Claire Campbell, Paul Lobo, Mallika Valapala. Lyons, Tetsuya Takimoto, Haley Edwards. Protection from Oxidative Damage to the PGC1a haploinsufficiency impairs retinal Retinal Pigmented Epithelial (RPE) Cells; Is function with aging serotonin receptor agonist an option? VP 77. Daisy Shu, Erik Butcher, Siwei , VP 84. Holly Chen, Manju Swaroop, Samantha Scott Frank, Emmanuella Nnuji-John, Papal, Kunio Nagashima, Wei Zheng, Anand Deviprasad Gollapalli, Magali Saint-Geniez. Swaroop.

28 Posters

Identification of small-molecule drug VP 91. Lorena Olivares González, Sheyla candidates to maintain photoreceptor Velasco Gomariz, Regina Rodrigo, Jose María survival in retinal degenerative diseases Millán Salvador. Intravitreal administration of adalimumab VP 85. Gustav Christensen, Francois Paquet- delays retinal degeneration in rd10 mice Durand. Enhanced uptake of liposomes in VP 92. Arunkumar Ranganathan, Aruna photoreceptors via a transporter-mediated Gorusupudi, Binxing Li, David Blount, pathway Uzoamaka Nwagbo, Hye Jin Kim, Janet Sparrow, Paul Bernstein. VP 86. Hernan Dieguez, Horacio Romeo, Macular carotenoids Lutein and Zeaxanthin Agustina Alaimo, María González Fleitas, Juan Reduce A2E and iso-A2E Levels and Calanni, Ruth Rosenstein, Damian Dorfman. Improve Visual Performance in Abca4-/- EXPOSURE TO ENRICHED /Bco2-/- Double Knockout Mice ENVIRONMENT PROTECTS THE CENTRAL RETINAL PIGMENT VP 93. Ivan Rebustini, S. Becerra. EPITHELIUM AND RETINA ON A DRY- PEDF protects photoreceptors via a CRX- AMD EXPERIMENTAL MODEL IN dependent mechanism MICE. VP 94. Sheldon Rowan, Sarah Francisco, VP 87. Mitra Farnoodian Tedrick, Francesca Chia-Fang Tsai, Kathryn Barger, Donald Barone, Kapil Bharti, Bok Kyoo Jun, William Smith, Chengxin Zhou, Eleftherios Paschalis, Gordon, Nicolas Bazan, Marie- Audrey Allen Taylor, Kelsey Smith. Kautzmann Guerin, Khan Do, Marisa Boyle, Dietary and experimental manipulation of Brian Brooks, Laryssa Huryn, Rishabh Gupta. gut microbiota alters age-related retinal Metformin A Potential Treatment For degeneration Stargardt's Disease VP 88. Michael Hayes, Marian Renwick, John Hulleman. Enhancing Autophagy to Treat Stargardt VP 95. Akanksha Roy, Arianna Tolone, Disease Tushar Tomar, Riet Hilhorst, Francois Paquet- Durand, John Groten. VP 89. Lia Huo, Carter Teal, Margaret Ho, Kinase activity profiling in inherited retinal Molly Shoichet, Leveillard Thierry, Hidekiyo neurodegeneration using PKG specific Harada, Philippe Monnier. inhibition Sustained Local Delivery of RdCVF-Sh3 to Rescue Cone Photoreceptor Death in VP 96. W. Clay Smith, TIffany Nelson, Chiab Retinitis Pigmentosa Simpson, Susan Bolch, Astra Dinculescu. A modified arrestin1 increases lactate VP 90. Jonathan Lin, Rajendra Apte, Mitsukuni production in the retina and slows retinal Yoshida, Shunsuke Kubota, Norimitsu Ban, degeneration Andrea Santeford, Abdoulaye Sene, Rei Nakamura, Miyuki Kubota, Kazuo Tsubota, VP 97. Danielle Swinkels, Yannick Das, Sai Jun Yoshino, Shin-ichiro Imai. Kocherlakota, Bok Kyoo Jun, Frédéric Vaz, Protecting against Retinal Paul Van Veldhoven, Nicolas Bazan, Myriam Neurodegeneration with Nicotinamide Baes. Mononucleotide (NMN): The Possibility of DHA supplementation slows down the Metabolic Neuroprotection retinal degeneration in a mouse model with peroxisomal β-oxidation deficiency

29 Posters

Cav1.4 dependent synaptic development in VP 98. Faiza Tahia, Jerome Cole II, Aram an all-cone retina Bejnood, Bano Qaladize, Nawajes Mandal. VP 106. Lynn Ebner, Christian Grimm, Evaluation of sphingolipid biosynthetic Duygu Karademir. inhibitor, SPT-I, to prevent retinal Single cell RNA sequencing identifies a cone- degeneration. specific and oxygen-dependent kinesin VP 99. Abhishek Vats, Yuanyuan Chen, Owen VP 107. Tylor Lewis, Mustafa Makia, Clinger, Bing Feng, Kira Lathrop, Mark Carson Castillo, Muayyad Al-Ubaidi, Muna Schurdak, Gregory Tochtrop. Naash, Vadim Arshavsky. Pharmacological chaperone protects retina Photoreceptor Disc Enclosure Is Tightly expressing P23H Rhodopsin ex vivo. Controlled by Peripherin-2 Oligomerization VP 100. Jing Wang, Shannon Barwick, VP 108. Faezeh Moakedi, Rawaa Haiyan Xiao, Sylvia Smith. Aljammal, Thamaraiselvi Saravanan, Sigma 1 receptor modulates Cullin3 in Visvanathan Ramamurthy. retinal cone photoreceptor cells. Lipidation of cone PDE6 is crucial for cone- mediated vision VP 101. Yixiao Wang, Ekaterina Lobanova. VP 109. Ailis Moran, Breandan Tsc2 knockout reduces Ubiquitin- Kennedy, Stephen Carter, Eugene Dillon, Proteasome System insufficiency and delays Roxana Radu, Gabriel Travis, Zhichun Jiang, Alicia Gomez Sanchez, Oliver Blacque, photoreceptor loss in a mouse model of Joanna Kaylor. Retinitis Pigmentosa Deciphering the role of Rab28 in cone vision VP 102. Felix Yemanyi, Chi-Hsiu Liu, and outer segment phagocytosis Shuo Huang, Alexandra Blomfield, Zhongjie VP 110. Abigail Moye, Michael Fu, Jing Chen. Robichaux, Valencia Potter, Theodore Wensel. Activation of nuclear receptor REV-ERBα Ultrastructural analysis of the Cep290 slows retinal degeneration in rd10 mice mutant axoneme in mouse photoreceptor VP 103. Jiaming Zhou, Michel cilia Rasmussen, Per Ekstrom. A potential neuroprotective role for VP 111. Ezequiel Salido, Chloe Coulter, Scott Rhodes. pyruvate kinase 2 in retinal degeneration Interphotoreceptor matrix proteoglycans IMPG1 and IMPG2 undergoes VP 104. Marika Zuanon, Andrea intramolecular proteolysis and reveal Brancale, Mark Young. localization interdependency Detection of functional P2X7 expression in VP 112. Will Spencer, Vadim ARPE-19 cells and development of P2X7 Arshavsky, Tylor Lewis, Nikolai Skiba, Martha antagonists for the treatment of Aged Cady, Nicholas Schneider. Macular Degeneration Branched actin polymerization initiates disc morphogenesis and is essential for

photoreceptor survival Photoreceptors VP 105. Sheila Baker, Joseph Laird, Colten Lankford, Ariel Kopel, Emma RPE Thornburg. VP 113. Angela Armento, Marius Ueffing, Aparna Murali, Tiziana Schmidt, Julia

30 Posters

Marzi, David Merle, Inga Sonntag, Simon VP 119. Francisco Diaz-Corrales, Ana Clark, Katja Schenke-Layland, Charmaine Garcia-Delgado, Lourdes Valdes-Sanchez, Ramlogan-Steel, Jason Steel. Berta de la Cerda. Complement Factor H (CFH) controls Evaluation of nrf2-/- mice transplanted with homeostasis of Retinal Pigment Epithelium iPSC derived RPE obtained from heathy (RPE) cells and FH dysregulation in RPE donors and AMD patients carrying the cells leads to retinal degeneration in a novel Y402H polymorphism within the CFH gene. human-porcine co-culture system. VP 120. Abigail Fahim, N Perera, AJ VP 114. Antonio Escudero Paniagua, Karoukis, Lisheng Chen, Kecia Feathers, Harjas Sabharwal, Kausalya Kethu, David Robin Ali, Debra Thompson. Williams, Andrew Chang. Choroideremia iPSC-RPE cells have Revisiting POS ingestion after 45 years: the increased barrier properties morning POS phagosome density peak VP 121. Aruna Gorusupudi, Kevin represents a decreased maturation rate Eade, Sarah Harkins-Perry, Sarah Giles, Paul rather than a maximal rate of ingestion. Bernstein, Jon Rainier. VP 115. Sai Kocherlakota, Yannick A synthetic very-long-chain polyunsaturated Das, Danielle Swinkels, Debasish Sinha, fatty acid (VLC-PUFA) enhances Frédéric Vaz, Marc Fransen, Myriam Baes. photoreceptor development in ELOVL4 Peroxisomal β-oxidation deficiency leads to knockout retinal organoids early onset RPE cell dedifferentiation and VP 122. Sangeetha Kandoi, Deepak lysosomal dysfunction Lamba, Jacque Duncan, Cassandra Martinez. VP 116. Marlyn Langform, Laura Photoregulin3 attenuates Rhodopsin Perilloux, A. Scott Kavanaugh. overexpression in retinal organoids from a Inhibition of bacterial peptidoglycan patient with multiple copies of the RHO cytopathic activity by retina pigment gene epithelial (ARPE-19) cell NAMAA VP 123. Yeh Chwan Leong, Hema VP 117. Sheetal Uppal, Eugenia Pramod, Aara Patel, Jane Sowden. Poliakov, Susan Gentleman, T. Michael Developing cell models for Usher syndrome Redmond. using human pluripotent stem cells: RNAseq The role of an Amphipathic Helix in the analysis of Usher 1B patient-derived retinal Membrane Association and Visual Function organoids of RPE65 Protein VP 124. Chen Matsevich, Hanita Khaner, Alexey Obolensky, Masha Idelson, Israel Ben-Dor, Benjamin Reubinoff, Eyal Stem cell and Organoid as models of Banin. degeneration In-vitro and in-vivo Characterization of VP 118. Tess Afanasyeva, Pedro CRX-expressing Photoreceptor Precursors Perdigao, Jacqueline van der Spuy, Jean Derived from Human Embryonic Stem Cells Bennett, Alejandro Garanto, Michael Cheetham, Ronald Roepman, Rob Collin, Dimitra Athanasiou. VP 125. German Michelis, S. Patricia Generation and characterization of human Becerra, Olga German, Luis Politi, Nora retinal organoids from gene-corrected Rotstein, Tamara Soto, Rafael Villasmil. induced pluripotent stem cell lines as a new Characterization of a rat primary retinal patient-specific model to study LCA5- cell culture model. associated retinal disease

31 Posters

VP 126. Alvaro Plaza Reyes, Berta de VP 133. Abirami Santhanam, John la Cerda, Francisco Diaz-Corrales, Félix O'Brien, Eyad Shihabeddin. Andújar-Sánchez, Miriam Ruiz Ballester, Unraveling the molecular mechanism of Lourdes Valdes-Sanchez. photoreceptor neuron regeneration in a Modeling Retinitis Pigmentosa using iPSC- Zebrafish model of Retinitis Pigmentosa derived Retinal Organoids VP 134. Dmitri Serjanov, David Hyde, VP 127. Fnu Ruchi, Malika James Twist, Meghan Swantkowski. Nimmagadda, aman george, Davide Ortolan, Regulation of Retinal Regeneration by the devika bose, Kapil Bharti. Extracellular Matrix Protein Nephronectin High throughput screen discovers drugs that ameliorate AMD phenotype in iPSC-RPE VP 135. Karen Tessmer, Kurth Thomas, Sylvia Gasparini, Oliver Borsch, derived from CFH low and high-risk Madalena Carido, Olivier GOUREAU, Mike variants Karl, Marius Ader. VP 128. Magdalene Seiler, Bin Lin, Optimising human retinal organoid-derived Yuntian Xue, Juan Martinez-Camarillo, photoreceptor transplantation into mouse DanHong Zhu, Robert Sims, Bryce McLelland, models of retinal degeneration Gabriel Nistor, William Tang, Mark Humayun, Hans Keirstead, Andrew Browne, Biju Thomas. Transplantation of retinal organoid sheets VP 136. Benjamin Thomson, Tuncer alone or with RPE sheets to rat models of Onay, Gerard Lutty, Susan Quaggin. retinal degeneration Uveal angiopoietin-1 is required for choriocapillaris development in mice VP 137. Levi Todd, Thomas Reh, Stem cells, regeneration, & Marcus Hooper. development Enhancing Muller glia-mediated retinal VP 129. Marcus Hooper, Thomas Reh. regeneration in the adult mouse retina via CRISPR activation-mediated expression of combinations of proneural transcription RGC transcription factors cause factors. mammalian Muller glia to adopt neuronal VP 138. Yesim Tutuncu, Cavit Agca, fates. Corina Kohler, Albert Neutzner, Markus VP 130. Wesley Jenkins, Levi Todd, Tschopp. Fred Rieke, Thomas Reh. Screening For Pharmacologically Active Regeneration of RGC-like cells in Molecules For Müller Cell Dedifferentiation mammalian retina with Ascl1, Pou4f2, and VP 139. Leo Volkov, Joe Corbo, Jeong Isl1 Sook Kim-Han, Vladimir Kefalov, Deepak VP 131. Fatimah Matalkah, Bohye Poria. Jeong, Visvanathan Ramamurthy, Peter Regulation of red cone fate by thrb Stoilov.

The Musashi family of stem factors is critical for the survival and function of terminally differentiated photoreceptor neurons VP 132. Isabella Palazzo, Andy Fischer. Inhibition of NFkB signaling promotes neuron regeneration in the mammalian retina

32 Sponsors

Partner level sponsors

Since 1999, Macular Degeneration Research (MDR) has awarded nearly $35 million to support research into the causes and potential prevention strategies and treatments of macular degeneration disease. MDR is currently supporting 47 biomedical researcher projects.

33 Sponsors

Over its 50-year history, the Foundation has raised over $816 million to support and advance the research that will reverse blindness and restore vision.

34 Sponsors

PRO RETINA Deutschland e.V. is a national self-help organization for people with genetic retina diseases. It was established in 1977 as the German Retinitis Pigmentosa Association by those affected and their families with the aim of helping themselves. Today PRO RETINA has about 6,000 members throughout Germany. Each member can join one of the approximately 50 regional groups. The Managing Board and all active members are volunteers. PRO RETINA offers support for

• Retinitis Pigmentosa (RP) • Macula Degeneration (MD) • Age-related Macula Degeneration (AMD) • Usher Syndrome • and many other rare diseases of the retina.

35 Sponsors

Fritz Tobler Travel Award, Switzerland

The nation’s leader in vision research. The mission of the national Eye Institute is to eliminate vision loss and improve quality of life through vision research.

R13 EY022574 Retinal Degeneration Conference grant

36 Sponsors

Silver level sponsors

With courageous science, creativity, and compassion, we are committed to delivering therapies for people with complement-driven diseases.

37 Sponsors

38 Sponsors

Biogen

39 Sponsors

Editas Medicine is a leading company focused on translating the power and potential of the CRISPR/Cas9 and CRISPR/Cas12a (also known as Cpf1) genome editing systems into a robust pipeline of treatments for people living with serious diseases around the world. Editas Medicine aims to discover, develop, manufacture, and commercialize transformative, durable, precision genomic medicines for a broad class of diseases.

40 Sponsors

Spark Therapeutics We don’t follow footsteps. We create the path.

41 Sponsors

Bronze level sponsors

Developing Groundbreaking Gene Therapies for Patients with Rare Diseases

Our mission is to advance a pipeline of first-in-class cell replacement therapies targeting Age-Related Macular Degeneration (AMD) and a broad range of inherited retinal disorders including Retinitis Pigmentosa.

42 Sponsors

EyeCRO specializes in preclinical ophthalmic studies to examine the efficacy of novel test agents and therapeutic modalities.

We are a biotechnology company focused on the discovery and development of genomic medicines for the treatment of blinding inherited retinal diseases.

QIAGEN serves more than 500,000 customers around the globe, all seeking answers from the building blocks of life – DNA, RNA and proteins. We deliver Sample to Insight solutions for molecular testing, propelling our customers from start to finish to unlock new insights. This is how we make improvements in life possible.

B

43 List of Participants

Fatima Abbas Rola Ba-Abbad University of Utah King Khaled Eye Specialist NATALIE BERNER [email protected] Hospital REDMILE GROUP [email protected] [email protected] Tess Afanasyeva Radboudumc Franz Badura Avigail Beryozkin [email protected] Retina International Hadassah-Hebrew University [email protected] Medical Center Martin-Paul Agbaga [email protected] University of Oklahoma Health Sheila Baker Sciences Center University of Iowa Kapil Bharti [email protected] [email protected] NEI/NIH [email protected] Cavit Agca Katie Bales Sabanci University Atlanta VA Medical Center David Birch [email protected] [email protected] Retina Foundation of the SW [email protected] Cavit Agca Brian Ballios Sabanci University University of Toronto Nicholas Bishop [email protected] [email protected] Deerfield Management [email protected] Divya Ail Cristi Barnett Institut de la Vision Editas Medicine Manas Biswal [email protected] [email protected] University of South Florida [email protected] Juan Amaral Francesca Barone NEI/NIH National Institute of Health Jeffrey Boatright [email protected] [email protected] Emory University School of Medicine Bela Anand-Apte Shannon Barwick [email protected] Cleveland Clinic Foundation Medical College of Georgia at [email protected] Augusta University Vera Bonilha [email protected] Cleveland Clinic Foundation Robert Anderson [email protected] DMEI S. Patricia Becerra [email protected] National Institutes of Health Shyamanga Borooah [email protected] University of California San Brandon Anderson Diego University of Pennsylvania Silke Becker [email protected] [email protected] John A. Moran Eye Center, nn.edu University of Utah Diane Bovenkamp

[email protected] BrightFocus Foundation David Anderson [email protected] Vanderbilt University Eloy Bejarano [email protected] Catherine Bowes Fernandez University CEU Cardenal Rickman Angela Armento Duke University University of Tübingen Herrera [email protected] [email protected] [email protected]

Lea Bennett Sanford Boye Vadim Arshavsky University of Florida Duke University University of Oklahoma Health Sciences Center [email protected] [email protected] [email protected] David Brint Radha Ayyagari Alexandra Bernardo- Foundation Fighting Blindness University of California - San [email protected] Diego Colón [email protected] National Institute of Health [email protected]

44 List of Participants

Heather Broussard Holly Chen Marie Csete BrightFocus National Institutes of ConeSight Therapeutics [email protected] Health/NEI [email protected] [email protected] Christine Curcio Emily Brown Michael Chiang University of Alabama at Harvard Medical School- Mass National Eye Institute Birmingham Eye and Ear [email protected] [email protected] [email protected] Michael Chiang Stephen Daiger Alicia Brunet National Institutes of Health Human Genetics Center The University of Western [email protected] [email protected]

Australia/Lions Eye Institute [email protected] Sarah Chorfi Pietro De Angeli Mass Eye and Ear Infirmary Universitätsklinikum Tübingen Kinga Bujakowska [email protected] [email protected] tuebingen.de Massachusetts Eye and Ear Mayur Choudhary Infirmary Wen-Tao Deng [email protected] Duke University School of Medicine West Virginia University Tiffany Burt [email protected] [email protected]

ProQR Therapeutics Partha Narayan Dey [email protected] Olivia Chowdhury University of Pittsburgh National Institutes of healthH Kaitlyn Calabro [email protected] [email protected]

University of Florida Anuradha Dhingra [email protected] Gustav Christensen University of Tübingen Univ of Pennsylvania Maria Valeria Canto- [email protected] [email protected]

Soler Daniel Chung Francisco Diaz-Corrales University of Colorado SparingVision FUNDACION PÚBLICA VALERIA.CANTO- [email protected] ANDALUZA PROGRESO Y [email protected]

SALUD CIF:G-41825811 Brittany Carr Rob Collin [email protected] Radboud University Medical University of British Columbia Hernan Dieguez [email protected] Centre [email protected] Laboratory of Retinal Salvatore Caruso Neurochemistry and Columbia University Jason Comander Experimental Ophthalmology, [email protected] Mass Eye and Ear School of Medicine/CEFyBO, Infirmary/Harvard Medical University of Buenos Yuanyuan Chen School [email protected]

University of Pittsburgh [email protected] [email protected] Andrea Dillinger Bruna Costa University of Regensburg Shiming Chen Columbia University [email protected]

Washington University [email protected] [email protected] Astra Dinculescu Cheryl Craft University of Florida Yiyi Chen USC ROSKI Eye Institute, [email protected]

University of Tuebingen KECK School of Medicine of [email protected] University of Southern Jindong Ding California Arctic Vision, Inc. jinghua Chen [email protected] [email protected]

University of Florida [email protected]

45 List of Participants

Xi-Qin Ding Cody Fisher Michael Gorin University of Oklaoma health University of Minnesota David Geffen School of Sciences Center [email protected] Medicine - UCLA [email protected] [email protected] John Flannery Alexander Dizhoor University of California, Aruna Gorusupudi Salus University, Pennsylvania Berkeley University of Utah College of Optometry [email protected] [email protected] [email protected] Steven Fliesler Tom Greenwell Jacque Duncan SUNY-Buffalo and VA Western National Eye Institute University of California, San NY Healthcare System [email protected] Francisco [email protected] [email protected] Allison Grenell Miguel Flores-Bellver Case Western Reserve Chiara Eandi University of Colorado Uiversity and Cleveland Clinic University of Torino [email protected] Cole Eye Institute [email protected] [email protected] Patrice Fort Lynn Ebner University of Michigan, Kellogg Christian Grimm University of Zurich Eye Center University of Zurich [email protected] [email protected] [email protected]

Kevin Emmerich Paula Fuller-Carter Gregory Grossman Johns Hopkins University Lions Eye Institute Advancing Sight Network School of Medicine paulafuller-carter@.org.au [email protected] [email protected] David Gamm Catharina Grubaugh Eric Enyong University of Wisconsin- University of Pennsylvania, University of Oklahoma Health Madison School of Dental Medicine Sciences Center [email protected] [email protected] [email protected] Claire Gelfman Michelle Grunin Antonio Escudero Foundation Fighting Blindness Case Western Reserve Paniagua [email protected] University

UCLA [email protected] [email protected] Heran Getachew Massachusetts Eye and Ear Siddhant Gupte Abigail Fahim Infirmary University of Florida University of Michigan [email protected] [email protected] [email protected] Sayan Ghosh Helma Gusseck Mitra Farnoodian University of Pittsburgh School Pro Retina Foundation Tedrick of Medicine [email protected] [email protected] NIH Yeboah Gyening [email protected] Navdeep Gogna University of Oklahoma Health Rosa Fernandes The Jackson Laboratory, Bar Science Center [email protected] Partner Travel - VAT Harbor, Maine [email protected] 514718960 Stephanie Hagstrom [email protected] Prakadeeswari Cole Eye Institute, Cleveland Deborah Ferrington Gopalakrishnan Clinic Hadassah-Hebrew University [email protected] University of Minnesota [email protected] Medical Center [email protected]

46 List of Participants

Jonathan Haines Marcus Hooper Bryan Jones Case Western Reserve University of Washington University of Utah, Moran Eye University [email protected] Center [email protected] [email protected] Stacey Hose Stacy Haller University of Pittsburgh, School Ronja Jung BrightFocus Foundation of Medicine University Hospital Tuebingen [email protected] [email protected] [email protected]

John Han Rachel Huckfeldt Sangeetha Kandoi Thomas Jefferson University Massachusetts Eye and Ear University of California San [email protected] [email protected] Francisco [email protected] James Handa Robert Hufnagel Johns Hopkins University National Institutes of Health Henry Kaplan [email protected] [email protected] Saint Louis University School of Medicine Christin Hanke- Lia Huo [email protected] Gogokhia University of Toronto Yale University [email protected] Duygu Karademir [email protected] University of Zurich James Hurley [email protected] Gabriella Hartman University of Washington Indiana University School of [email protected] Rusty Kelley

Medicine Foundation Fighting Blindness [email protected] Alessandro Iannaccone [email protected] Duke University Daniel Hass [email protected] Mikael Klingeborn

University of Washington Duke University [email protected] Shivangi Inamdar [email protected] University of Iowa Michael Hayes [email protected] Sai Kocherlakota

UTSW KU Leuven [email protected] Michael Iuvone [email protected] Emory University School of Heather Heitkotter Medicine Saravanan Kolandaivelu Medical College of Wisconsin [email protected] West Virginia University [email protected] [email protected] Chad Jackson Elise Heon Foundation Fighting Blindness Ankita Kotnala Hospital for Sick Children [email protected] Vanderbilt University [email protected] [email protected] Archana Jalligampala Belinda Hernandez University of Louisville-School Timothy Kraft Duke University of Medicine University of Alabama at [email protected] [email protected] Birmingham, UAB [email protected] TJ Hollingsworth Ashwath Jayagopal University of Tennessee Health Kodiak Sciences Heike Kroeger Science Center [email protected] University of Georgia [email protected] [email protected] Wesley Jenkins Joe Hollyfield University of Washington Madhu Kumar Cleveland Clinic [email protected] Goldman Sachs [email protected] [email protected] Ke Jiang NIH [email protected]

47 List of Participants

Noriyuki Kuno Alfred Lewin Arvydas Maminishkis Japan Innovative Therapeutics, University of Florida NEI/NIH Inc. [email protected] [email protected] [email protected] Tylor Lewis Vered Manny-Aframian Aparna Lakkaraju Duke University usherhub University of California, San [email protected] [email protected] Francsico [email protected] Kang Li Beatriz Martins University of Colorado University of Coimbra Deepak Lamba [email protected] [email protected] University of California, San Francisco Jonathan Lin Fatimah Matalkah [email protected] Stanford University WVU [email protected] [email protected] Michael Landowski University of Wisconsin- Jonathan Lin Chen Matsevich Madison Mass Eye and Ear/Harvard Hadassah-Hebrew University [email protected] Medical School Medical Center [email protected] [email protected] Marlyn Langford Louisiana State University YING LIU Brian McKay Health Sciences Center Wilmer Eye Institute, Johns University of Arizona [email protected] Hopkins University [email protected] [email protected] Amy Laster Alex McKeown Foundation Fighting Blindness Qin Liu Apellis Pharmaceuticals [email protected] Massachusetts Eye & Ear [email protected] Infirmary Yun Le [email protected] Russell Mellen University of Oklahoma Health University of Florida Sciences Centerer Yu Liu [email protected]

[email protected] SUNY Upstate Medical University Jason Menzo Tae Jun Lee [email protected] Foundation Fighting Blindness Washington University School [email protected] of Medicine Haitao Liu [email protected] University of Pittsburgh Lisa Michaels [email protected] Editas Medicine Joon Lee [email protected]

Truist Securities Ekaterina Lobanova [email protected] University of Florida German Michelis [email protected] National Eye Institute/NIH Elise Léger [email protected]

Institut de la vision, Sorbonne Glenn Lobo Université University of Minnesota Annie Miller [email protected] [email protected] Lions Eye Institute [email protected] Yeh Chwan leong Birgit Lorenz University College London Dept of Ophthalmology, Sabrina Mitchell [email protected] Universitaetsklinikum Bonn, Vanderbilt University Medical Germany Center Courtney Leslie [email protected] [email protected]

Janssen Global [email protected] Goldis Malek Rajendra Mitra Duke University Medical Center AGTC [email protected] [email protected]

48 List of Participants

Faezeh Moakedi Emeline Nandrot Jillian Pearring West Virginia University Institut de la University of Michigan [email protected] Vision_FONDATION VOIR & [email protected] ENTENDRE Anupam Mondal [email protected] Mark Pennesi National Eye Institute/NIH Oregon Health & Science [email protected] Riccardo Natoli University - Casey Eye Institute Australian National University [email protected] Ailis Moran [email protected] University College Dublin Florian Peters [email protected] Martha Neuringer University of Zurich/University Oregon Health & Science Hospital Zurich Sree Indrani Motipally University [email protected] West Virginia University [email protected] [email protected] Maximilian Pfau Eric Nguyen National Institutes of Health Freya Mowat NEI/NIH [email protected] University of Wisconsin- [email protected] Madison Chas Pfeifer [email protected] Nicholas Nolan Washington University School Columbia University of Medicine Abigail Moye [email protected] [email protected] Baylor College of Medicine [email protected] Lorena Olivares Rebecca Pfeiffer González University of Utah Moran Eye James Mullen CIPF Center Editas Medicine [email protected] [email protected] [email protected] Celine Olmiere Nancy Philp Robert Mullins Thea Open Innovation Thomas Jefferson University Stephen A Wynn Institute for [email protected] [email protected] Vision Research, The m University of Iowa Eric Pierce [email protected] Davide Ortolan Massachusetts Eye and Ear National Eye Institute Infirmary Daniella Munezero [email protected] [email protected] West Virginia university [email protected] Bilge Ozturk Steven Pittler University of Pittsburgh Univ of Alabama at Birmingham Anbukkarasi Muniyandi [email protected] [email protected] IUPUI [email protected] Isabella Palazzo Alvaro Plaza Reyes The Ohio State Universtiy Fundación Progreso y Salud - Yusuke Murakami [email protected] CABIMER Kyushu University [email protected] [email protected] Francois Paquet-Durand u.ac.jp University of Tuebingen Agathe Plichta

[email protected] ProQR Daniel Murphy tuebingen.de [email protected] Washington University School of Medicine Tea Soon Park Xinye Qian [email protected] NIH Baylor College of Medicine

[email protected] [email protected] Rene Myers Editas Medicine William Pavlicek Haohua Qian [email protected] Emeritus Mayo Clinic Arizona National Eye Institute

[email protected] [email protected]

49 List of Participants

Peter Quinn Abirami Santhanam Columbia University Sharyn Rossi University of Texas Health [email protected] BrightFocus Foundation Science center [email protected] [email protected] Sriganesh Ramachandra Rao Steven Roth Clayton Santiago State University of New York, University of Illinois Johns Hopkins University [email protected] University at Buffalo [email protected] [email protected] Sheldon Rowan Lukas Scheibler Visvanathan Tufts University Apellis Pharmaceuticals [email protected] [email protected] Ramamurthy West Virginia University Akanksha Roy Kevin Schey [email protected] PamGene International BV and Vanderbilt University Wageningen University and [email protected] Arunkumar Research Ranganathan [email protected] Kelly Schoenberger University of Utah BrightFocus Foundation [email protected] Fnu Ruchi [email protected] u national institute of healths

[email protected] Michael Schwartz Sujata Rao ProQR Therapeutics Cole Eye Institute, Cleveland William Ruddick [email protected] Clinic University of Florida [email protected] [email protected] Magdalene Seiler

University of California at Irvine Michel Rasmussen Daniel Saban [email protected] Lund University Duke University School of [email protected] Medicine Dmitri Serjanov

[email protected] University of Notre Dame Rinki Ratnapriya [email protected] Baylor College of Medicine Sohel Sachak [email protected] Janssen Ben Shaberman

[email protected] Foundation Fighting Blindness Ivan Rebustini [email protected] National Eye Institute, NEI-NIH Magali Saint-Geniez [email protected] Harvard Medical School, Naveed Shams

Schepens Eye Research ProQR Therapeutics T. Michael Redmond Institute of Mass. Eye and Ear [email protected] National Eye Institute [email protected] [email protected] Shang

Ezequiel Salido University of Pittsburgh Amberlynn Reed West Virginia University [email protected] NEI [email protected] [email protected] Grace Shen

Alonso Sánchez-Cruz National Eye Institute Giulia Righetti CENTRO DE [email protected] University of Tübingen INVESTIGACIONES [email protected] Daisy Shu BIOLÓGICAS MARGARITA Jerome Roger SALAS CSIC Schepens Eye Research [email protected] Institute CERTO / CNRS [email protected] [email protected] Riccardo Sangermano Massachusetts Eye and Ear Paul Sieving Baerbel Rohrer University of California Davis Medical University of South Infirmary [email protected] [email protected] Carolina RD.EDU [email protected]

50 List of Participants

Debasish Sinha Danielle Swinkels Yesim Tutuncu University of Pittsburgh KU Leuven Sabanci University [email protected] [email protected] [email protected]

Dimitra Skondra FAIZA TAHIA Mala Upadhyay University of Chicago University of Tennessee Health Cole Eye institute, Cleveland [email protected] Science Center Clinic [email protected] [email protected] Dorota Skowronska- Krawczyk Ernst Tamm Sheetal Uppal UC Irvine University of Regensburg National Institute of Heath [email protected] [email protected] [email protected]

W. Clay Smith Karen Tessmer Mallika Valapala University of Florida TU Dresden Indiana University [email protected] [email protected] [email protected]

Sylvia Smith Lea Thiebault Joseph Vance Medical College of Georgia at Sorbonne Université Spective, LLC Augusta University [email protected] [email protected] [email protected] James Thierer Elora Vanoni Maria Solaki JHMI Institut de la Vision-fondation Eberhard Karls University of [email protected] voir et entendre

Tuebingen [email protected] [email protected] Debra Thompson University of Michigan-Kellogg Abhishek Vats Janet Sparrow Eye Center University of Pittsburgh Columbia University [email protected] [email protected] [email protected] Benjamin Thomson Frans Vinberg Will Spencer Northwestern University UNIVERSITY OF UTAH Duke University Feinberg School of Medicine [email protected] [email protected] [email protected] Michael Volkert Peter Stoilov Levi Todd UMass Medical School WVU University of Washington [email protected] [email protected] [email protected] Leo Volkov Preeti Subramanian Iskalen Topcu Okan Washington University School BrightFocus Foundation Sabancı University of Medicine [email protected] [email protected] [email protected]

Lori Sullivan Yi-Ting Tsai Douglas Wallace The University of Texas Health Columbia University Children's Hospital of Science Center [email protected] Philadelphia

[email protected] [email protected] Ioanna Tsioti Chi Sun Inselspital, University Hospital Jing Wang Washington University in St. of Bern Medical College of Georgia at Louis [email protected] Augusta University [email protected] [email protected] Santa Tumminia Yogapriya Sundaresan National Institutes of Health Yiyi Wang Hadassah-Hebrew University [email protected] University of California,

Medical Center Berkeley [email protected] [email protected]

51 List of Participants

Gena Wang Wenjing Wu Dan Yoon Barclays Oklahoma Health Science UMass [email protected] Center [email protected] [email protected] Yixiao Wang Chen Yu University of Florida Zhouhuan Xi Duke University School of [email protected] University of Pittsburgh and Medicine Xiangya Hospital, Central [email protected] Carol Weigel DiFranco South University Mass Eye & Ear [email protected] Don Zack [email protected] Johns Hopkins Yunlu Xue [email protected] Laura Whelan Harvard Medical School Trinity College Dublin [email protected] Liyun Zhang [email protected] Johns Hopkins University Xian-Jie Yang [email protected] Kenya Wilcots University of California School Lerner Research Institute of Medicine Congxiao Zhang [email protected] [email protected] NEI/NIH [email protected] Samuel William Paul Yang NIH Casey Eye Institute, Oregon Jiaming Zhou [email protected] Health & Science University Lund University

[email protected] [email protected] Alyson Wolk Duke University Felix Yemanyi Eberhart Zrenner [email protected] Boston Children's University of Tuebingen

Hospital/Harvard Medical [email protected]

Jonathan Wolleben School JMP Securities [email protected] Marika Zuanon [email protected] Cardiff Uni Benjamin Yerxa [email protected] Yvette Wooff FOUNDATION FIGHTING Australian National University BLINDNESS [email protected] [email protected]

52