Funded Projects

2025 Grant Recipients
RANDY WHEELOCK RESEARCH AWARD
Project Title.....
Researcher: Alice Y. Zhang, MD, Associate Professor and Residency Program Director in the Department of Ophthalmology at the University of North Carolina at Chapel Hill
Institution: University of North Carolina at Chapel Hill, Chapel Hill, NC.
JOHN OSTER LEADERSHIP AWARD
Project Title....
Researcher: David Gamm, MD, PhD, Director, McPherson Eye Research Institute; Associate Professor, Ophthalmology and Visual Sciences and Christopher Ahern, PhD, Professor of Molecular Physiology and Biophysics, University of Iowa
Institution: University of Wisconsin, McPherson Eye Research Institute, Madison, WI and University of Iowa, Carver College of Medicine, Iowa City, IA
HOLZER FAMILY RESEARCH AWARD
Long Term Follow-Up of Choroideremia Patients Receiving Bilateral Retinal Gene Therapy
Researcher: Robert MacLaren, MB, ChB, DPhil, DSc, FRCOphth, FRCS, FACS, FMedSci, Professor of Ophthalmology
Institution: University of Oxford, United Kingdom
A Classification System for Choroideremia
Researcher: Ajoy Vincent, MBBS, MS, FRCSC, Associate Professor, Department of Ophthalmology and Vision Sciences
Institution: Hospital for Sick Children, Toronto, Canada
CRISPR-Based Gene Editing for Choroideremia
Researcher: Miguel Seabra, MD, PhD and Pedro Antas, PhD, Global Eye Initiative
Institution: Champalimaud Foundation, Portugal
Deep Learning Discovery of Molecular Glues that Preserve Sight in Choroideremia
Researcher: Thomas Barker, PhD, Professor of Biomedical Engineering, Cell Biology and Pulmonary and Critical Care Medicine, Schools of Engineering and Medicine
Institution: University of Virginia, Charlottesville, VA
Mechanisms of Defective RPE Cell Autophagy in Choroideremia
Researcher: Abigail Fahim, MD, PhD, Clinical Assistant Professor, Ophthalmology and Visual Sciences
Institution: Kellogg Eye Center, University of Michigan, Ann Arbor, MI
Advanced Genomic Analysis of Female Carriers of X-linked Retinal Disease
Researcher: Sena Gocuk, OD, MPhil, PhD, FAAO, Department of Optometry and Vision Sciences
Institution: University of Melbourne, Australia
2024 Grant Recipients
Structure-Function Relationships at a Cellular Level in Choroideremia using Adaptive Optics Scanning Light Ophthalmoscopy
Funded in partnership with the Penn Orphan Disease Center Million Dollar Bike Ride
Researcher: Jessica I.W. Morgan, PhD, Director, Advanced Retinal Imaging, Center for Advanced Retinal and Ocular Therapeutics
Institution: Perelman School of Medicine, University of Pennsylvania, PA
CHM International Scientific Symposium CoSponsorship
Research: Sponsorship and Researcher Travel Stipends
Institution: France Choroideremie
RANDY WHEELOCK RESEARCH AWARD
Using Suppressor Transfer RNAs to correct CHM Nonsense Mutations
Researcher: Shalhevet Izraeli, MSc Student
Institution: Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Optimization of AAV Vectors for Ace-tRNA Readthrough Therapy for Choroideremia
Researcher: David Gamm, MD, PhD, Director, McPherson Eye Research Institute; Associate Professor, Ophthalmology and Visual Sciences
Institution: University of Wisconsin, McPherson Eye Research Institute, Madison, WI
Assessment of Metabolic Homeostasis in the CHMnull/wt Mouse, Implications for Novel Therapeutic Interventions
Researcher: Kathleen Boesze-Battaglia, PhD, Professor of Biochemistry and Biophysics
Institution: University of Pennsylvania, Philadelphia, PA
Validation of Functional Vision Testing in a Population of Patients with Retinitis Pigmentosa & Choroideremia (ABACUS-1)
Researcher: Robert James Casson, MB, BS Hons, Professor of Ophthalmology, University of Adelaide and Kiora Pharmaceuticals
Institution: Kiora Pharmaceuticals, Encinitas, CA
Further Development of CHM Nonsense Mutation Readthrough Compounds and Maintenance of the CHM Mouse Colony
Researcher: Mariya Moosajee, MBBS, BsC (Hons), PhD, FRCOphth, Consultant Ophthalmic Surgeon and Clinical Academic Ophthalmologist
Institution: University College, London, UK
2023 Grant Recipients
To Study the Potential for Collagen Mimetic Peptides to Reduce Progressive Damage to the Bruch’s-RPEPhotoreceptor Complex in Choroideremia
Funded in partnership with the Penn Orphan Disease Center Million Dollar Bike Ride
Researcher: Malia Edwards, PhD, Associate Professor of Ophthalmology
Institution: Wilmer Eye Institute, Johns Hopkins Medicine, Baltimore, MD
RANDY WHEELOCK RESEARCH AWARD
Pathways of Retinal Pigment Epithelium Degeneration in Choroideremia
Researcher: Luisa de Lemos, PhD, Postdoctoral Researcher
Institution: Champalimaud Foundation, Portugal
Gene Therapy for Choroideremia: Redefining Cellular Targets and Treatment Windows
Researcher: Tomas S. Aleman, MD, Director of the Retinal Structure and Function Laboratory, Perelman Center for Advanced Medicine, Perelman School of Medicine
Institution: University of Pennsylvania, Philadelphia, PA
An Investigator-Led Pilot Study for the Use of Ataluren to Treat Nonsense-Mediated Choroideremia
Researcher: Mariya Moosajee, MBBS, BsC (Hons), PhD, FRCOphth, Consultant Ophthalmic Surgeon and Clinical Academic Ophthalmologist
Institution: University College, London, UK
A Novel Murine Pre-Clinical Model for Choroideremia Research
Researcher: Bhanu P. Telugu, DVM, PhD, President & CSO
Institution: RenOVAte Biosciences, Inc., Reisterstown, MD
In-vitro and In-vivo RNA Editing of CHM Nonsense Nutations – 2-Year Project
Researcher: Dror Sharon, PhD; Division of Ophthalmology and Shay Ben-Aroya, PhD; Faculty of Life Sciences
Institution: Institution: Hadassah-Hebrew University Medical Center, Jerusalem, Israel, and Bar-Ilan University, Israel
FRANCISCO RODRIGUEZ RESEARCH AWARD
Identifying the Cause of a Discordant Phenotype in Two Brothers with the Identical CHM Mutation, Year 2
Researcher: Ian MacDonald, MSc, MD, CM, Professor Emeritus, Department of Ophthalmology and Visual Sciences
Institution: University of Alberta, Canada
BENELLI FAMILY RESEARCH AWARD
Structural and Functional Changes in Female Carriers of Choroideremia: A Longitudinal Study – Year 2 Expansion Study
Researcher: Sena Gocuk, B.Sci (Hons), D.Optom, M.Phil, Department of Optometry and Vision Sciences
Institution: University of Melbourne, Australia
THROSSELL AND HILLIER FAMILIES RESEARCH AWARD
Translational Read-Through as Therapeutic Approach for CHM Patients with Disease-Causing Nonsense Mutations
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Kerstin Nagel-Wolfrum, D. Phil. Nat; Institute of Molecular Physiology
Institution: Johannes Gutenberg University, Mainz, Germany
THROSSELL AND HILLIER FAMILIES RESEARCH AWARD
Development of a Modular CHM Minigene for Testing Rescue of the LET Variant via Anticodon Engineered tRNAs
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Joseph Porter, PhD and John Lueck, PhD, Department of Pharmacology and Physiology
Institution: University of Rochester Medical Center, Rochester, NY
THROSSELL AND HILLIER FAMILIES RESEARCH AWARD
CRISPR-Based Gene Editing for Choroideremia
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Miguel Seabra, MD, PhD and Pedro Antas, PhD, Global Eye Initiative
Institution: Institution: Champalimaud Foundation, Portugal
2022 Grant Recipients
Targeting Metabolic Homeostasis in Dysfunctional CHM Retinal Pigment Epithelia
Funded in partnership with the Penn Orphan Disease Center Million Dollar Bike Ride
Researcher: Kathleen Boesze-Battaglia, PhD, Professor of Biochemistry and Biophysics
Institution: University of Pennsylvania, Philadelphia, PA
MAIA Scotopic Microperimetry Equipment Purchase
Researcher: Jasleen Jolly, DPhil, MSc, BSc (Hons), MCOptom, Associate Professor, Vision and Eye Research Institute
Institution: Anglia Ruskin University, Cambridge, UK
Structural and Functional Changes in Female Carriers of Choroideremia: A Longitudinal Study
Researcher: Sena Gocuk, B.Sci (Hons), D.Optom, M.Phil, Department of Optometry and Vision Sciences
Institution: University of Melbourne, Australia
Developing an Antisense Oligonucleotide Therapy for Choroideremia
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Ian MacDonald, MSc, MD, CM, Professor Emeritus, Department of Ophthalmology and Visual Sciences
Institution: University of Alberta, Canada
Project Title: Unravelling the Pathophysiology of CHM Using Innovative Approaches
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Vasiliki Kalatzis, PhD, Human Genetics, HDR Life Sciences
Institution: Institute for Neurosciences of Montpellier, INSERM, France
Assessing the Potential of Engineered tRNA Readthrough Technology to Restore Rab Escort Protein-1 (REP-1) Protein Expression
Funded in partnership with the Penn Orphan Disease Center
Researcher: David Gamm, MD, PhD, Director, McPherson Eye Research Institute; Associate Professor, Ophthalmology and Visual Sciences
Institution: University of Wisconsin, McPherson Eye Research Institute, Madison, WI
2021 Grant Recipients
CHM Porcine Animal Model Development – 3-Year Project
Funded in Partnership with Choroideremia Research Foundation Canada
Researcher: Bhanu P. Telugu, DVM, PhD, President & CSO
Institution: RenOVAte Biosciences, Inc., Reisterstown, MD
Investigating Choroideremia Pathophysiology Using iPSC-derived Retinal Pigment Epithelium, Year 2
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Abigail Fahim, MD, PhD, Clinical Assistant Professor, Ophthalmology and Visual Sciences
Institution: Kellogg Eye Center, University of Michigan, Ann Arbor, MI
RANDY WHEELOCK RESEARCH AWARD WINNER
Characterizing the Phenotypical Findings in Female Carriers with Confirmed CHM Mutation Using Multimodal Imaging and Functional Testing
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Cynthia Qian, MD, FRCSC, DABO, Clinical Assistant Professor
Institution:University of Montreal, Canada
RICKETTS FAMILY RESEARCH AWARD
The Visual Brain in Choroideremia
Researcher: Jasleen Kaur Jolly MSc BSc (Hons) MCOptom, Senior Clinical Research Fellow
Institution: University of Oxford, Nuffield Department of Clinical Neurosciences, UK
Pharmacological Induction of Autophagy to Treat CHM
Funded in partnership with the Penn Orphan Disease Center Million Dollar Bike Ride
Researcher: Ivan Conte, PhD, Assistant Professor, Department of Biology, Polytechnic and Basic Sciences School
Institution: University of Naples Federico II, Italy
THE AUBURN THETA CHI, CHI CHAPTER RESEARCH AWARD
Generation of Human iPSC Lines with Patient-Relevant REP-1 Mutation
Researcher: David Gamm, MD, PhD, Director, McPherson Eye Research Institute; Associate Professor, Ophthalmology and Visual Sciences
Institution: University of Wisconsin, McPherson Eye Research Institute, Madison, WI
GLEASON FAMILY RESEARCH AWARD
A Novel Approach to Unravelling the Pathophysiology of CHM Using iPSC-derived RPE from Patients
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Vasiliki Kalatzis, PhD, Human Genetics, HDR Life Sciences
Institution: Institute for Neurosciences of Montpellier, INSERM, France
SALOIS FAMILY RESEARCH AWARD
Neuroprotection for Choroideremia
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Mariya Moosajee, MBBS, BsC (Hons), PhD, FRCOphth, Consultant Ophthalmic Surgeon and Clinical Academic Ophthalmologist
Institution: University College, London, UK
2020 Grant Recipients
OSTER FAMILY RESEARCH AWARD
Measuring the En Face Ellipsoid Zone (EZ) Area as a Biomarker of Photoreceptor Structure/Function in Choroideremia
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Yi (Fay) Zhai, MD, PhD, Clinical Research Fellow, Department of Ophthalmology
Institution: University of Alberta, Canada
BOREN FAMILY RESEARCH AWARD
Identifying the Cause of a Discordant Phenotype in Two Brothers with the Identical CHM Mutation
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Stacey Hume, PhD, FCCMG, Associate Professor, Department of Medical Genetics
Institution: University of Alberta, Canada
Investigating Choroideremia Pathophysiology Using iPSC-derived Retinal Pigment Epithelium
Funded in partnership with the Choroideremia Research Foundation Canada
Researcher: Abigail Fahim, MD, PhD, Clinical Assistant Professor, Ophthalmology and Visual Sciences
Institution: Kellogg Eye Center, University of Michigan, Ann Arbor, MI
Randy Wheelock Research Award Budget Supplement
Researcher: David Gamm, MD, PhD, Director, McPherson Eye Research Institute; Associate Professor, Ophthalmology and Visual Sciences
Institution: University of Wisconsin, McPherson Eye Research Institute, Madison, WI
RANDY WHEELOCK RESEARCH AWARD WINNER
Identifying the Function of REP-1 Protein in Retina (RPE/Photoreceptors) and Non-Retina Tissues
Researcher: Kim Edwards, Graduate Student
Institution: University of Wisconsin, McPherson Eye Research Institute, Madison, WI
Understanding Mitochondrial Defects in Choroideremia
Researcher: David Williams, PhD, Professor in Residence, Ophthalmology
Institution: University of California, Los Angeles, CA
Autonomously Replicating DNA Nanovectors for Gene and Cell Therapy of Choroideremia
Researcher: Richard Harbottle, PhD, Group Leader, DNA Vector Group Leader
Institution: German Cancer Research Centre, DKFZ, Heidelberg, Germany
Adaptive Optics Imaging in Follow-Ups of Choroideremia Patients After Gene Therapy
Funded in partnership with the Penn Orphan Disease Center Million Dollar Bike Ride
Researcher: Katrina Stingl, MD, Ophthalmologist, Clinical Scientist
Institution: University Eye Hospital, Tübingen, Germany







