Funded Projects

Neal Bench, CRF President, awarding Alice Zhang, MD and colleagues the 2025 Randy Wheelock Award at UNC-Chapel Hill.

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

2002-2019 Grant Recipients