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FBC Funded Research

Every year, donors of Fighting Blindness Canada (FBC) fund research taking place in hospitals and universities across Canada, and around the world. This research is the backbone of our community and our primary tool for identifying the causes, treatments and, ultimately, cures for eye diseases. FBC and its generous supporters are currently committed to funding studies focused in three major areas of research:

Understand  – To comprehend the causes and effects of eye diseases
Preserve  – To retain and protect vision for people living with eye diseases
Restore  – To restore lost vision and cure blinding eye diseases

Scientific Title: Targeting metabolic abnormalities in retinitis pigmentosa

Lead Investigator: Dr. Peter Campochiaro
Institution: Wilmer Eye Institute, John Hopkins University
Granted: $47,500

Retinitis pigmentosa (RP) is often caused by mutations in genes that are specific to rod photoreceptors, which are responsible for night and peripheral vision. However, once rod photoreceptors die, this is often followed by loss of cone photoreceptors, responsible for detail and central vision. Disrupted metabolism may be one of the reasons that cone photoreceptor cells die. Dr. Campochiaro is studying if he can shift metabolic pathways in order to improve photoreceptor survival in an animal model of RP.

Funded by Andrew and Yvette Marriott.

Scientific Title: Temporal Identity Factors: Opening New Avenues for Cell Therapy in Retinal Degeneration

Lead Investigator: Dr. Michel Cayouette
Institution: Institut de recherches cliniques de Montréal
Granted:$125,000 from FBC / $990,000 from Canadian Institutes of Health Research (CIHR)
Duration:July 2016 – July 2021

Read more about this project.

Scientific Title: The role of complement factor D (adipsin) in the pathogenesis of the Stargardt phenotype in ABCA4-deficient mice

Lead Investigator: Dr. Bob Chow
Institution: University of Victoria
Granted: $27,000

Stargardt disease affects the macula, a part of the retina that is responsible for detail and central vision with vision loss generally beginning during childhood or the teenage years. Most cases of the disease are caused by mutations in the gene ABCA4. Dr. Chow is using a genetic approach to see if blocking part of the inflammatory reaction (Complement D) slows the progression of Stargardt disease in an animal model.

Read more about this project.

Scientific Title: Investigating the role of microglia in retinal diseases: a key in shaping new treatments

Lead Investigator: Dr. Delphine Gobert
Institution: Université Laval
Granted: $60,000

Diabetic retinopathy affects more than half a million Canadians, and can cause severe vision loss. It is the leading cause of vision loss in working age adults. Diabetic retinopathy is caused by high blood sugar, which can lead to retinal damage. Newer research has suggested that microglia, which are immune cells present in the retina, may play a role in degenerative retinal diseases. Dr. Gobert’s research aims to determine if microglia and their inflammatory response are linked to diabetic retinopathy. This research will contribute to a better understanding of the mechanisms causing diabetic retinopathy and may ultimately help develop targeted therapies that can reduce the impact of this complication of diabetes.

Dr. Delphine Gobert is the recipient of the Andrew and Valerie Pringle Inspiring Future Vision Star award.

Scientific Title: Antisense therapy for the treatment of visual loss in Usher Syndrome

Lead Investigator: Dr. Robert Koenekoop
Institution: The Research Institute of the McGill University Health Centre
Granted: $226,960 over 5 years, 2019 – 2024

Dr. Robert Koenekoop will be starting a natural history clinical trial in Canada for individuals with Usher syndrome caused by mutations in the USH1C gene. This study is an important step in the process of bringing a new treatment to clinical trials-especially for rare diseases. It helps researchers understand more about the disease and is critical to find patients who may be eligible for any future treatment.

Learn more about Dr. Koenekoop’s research.

Scientific Title: Movement of Retinal Pigment Epithelium Cells during Development and in Injury

Lead Investigator: Dr. Sarah McFarlane
Institution: University of Calgary
Granted: $277,248 over 5 years, 2015–2020

Dr. Sarah McFarlane is studying how retinal pigment epithelial (RPE) cells move with the hope that it may help improve treatments for age related macular degeneration (AMD). AMD involves the damage to RPE cells which provide critical support functions for photoreceptors, the light sensing cells of the retina. Dr. McFarlane will use gene editing techniques to identify molecules that influence RPE cell movement. Cell replacement therapies are being studied as an innovative treatment for AMD. To be successful, healthy RPE cells will need to migrate from the site of injection to the sites of RPE cells damage. Dr. McFarlane hopes that work from this study will be used to increase the success of cell replacement therapy for AMD.

Learn more about Dr. McFarlane research.      

Scientific Title: Ocular Inflammatory Modulators in Age-related Macular Degeneration: A Role for Locally Accumulating Vitamin D

Lead Investigator: Dr. Jacob Rullo
Institution: Queen’s University
Granted: $60,000 over 2 years, October 2018 – October 2020

Dr. Jacob Rullo is studying the connection between vitamin D inside the eye and age-related macular degeneration (AMD), the leading cause of blindness in the aging population. Dr. Rullo will examine if vitamin D levels in the eye are lower in patients with AMD and study how AMD affects the levels of vitamin D. Considering the burden AMD has on the aging population, determining the role vitamin D plays could have enormous treatment potential.

Read more about this project

Scientific Title: Function of Usher Syndrome protein PCDH15 in photoreceptor maintenance

Lead Investigator: Dr. Vincent Tropepe
Institution: University of Toronto
Granted: $177,500 over 2 years

Usher syndrome is a genetic disorder that causes hearing and vision loss beginning as early as childhood. While we know many of the genes that are responsible for Usher Syndrome, scientists do not understand how these mutations lead to vision loss. In this project Dr. Tropepe will use a zebrafish model to study a mutation in gene. This gene mutation affects approximately 20% of patients with the most severe form of Usher syndrome, USH1. Dr. Tropepe’s team wants to understand why and how mutations in the pcdh 15b gene cause photoreceptor cell death and if gene therapy can help restore vision.

Scientific Title: Deciphering the first gene for pigmentary glaucoma

Lead Investigator: Dr. Michael Walter
Institution: University of Alberta
Granted: $216,000 over 2 years

Pigmentary glaucoma is a form of glaucoma that occurs when pigment particles from the coloured part of the eye, called the iris, are released and clog up the drainage system in the eye. Left untreated this can cause vision loss or blindness.  Dr. Walter’s team recently discovered that a mutation in the PMEL gene can cause some forms of pigmentary glaucoma. In this project the team will study how this mutation impacts the eye’s drainage system. This information may help scientists develop new treatments for pigmentary glaucoma.

Learn more about Dr. Walter’s project.

The Fighting Blindness Canada (FBC) Patient Registry is a secure anonymous medical database that collects information about Canadians living with inherited retinal diseases (IRDs) to connect them to research and clinical trials for emerging treatments. Founded in 2004, the registry was the first of its kind for IRDs in the world. There are currently four enrolment sites: Edmonton, Halifax, Toronto, and Vancouver, with a fifth site in Montreal opening in 2020.

The FBC Patient Registry helps demonstrate there is a market for clinical trials in Canada and will ensure Canadians living with inherited retinal diseases are not left behind.

Learn more about the FBC Patient Registry.

Funded in part by the Vision Health Research Network and the Estate of Doreen Powles.

Scientific Title: Investigating the Effect of a PEX6 Mutation on Peroxisome Structure and Function

Lead Investigator: Dr. Matthew Benson
Institution: University of Alberta
Granted: $60,000 over 2 years, October 2018 – October 2020

Dr. Benson is studying a genetic condition that leads to significant vision and hearing loss. Specifically, he is exploring how mutations in the PEX6 gene impact the structure and function of an important part of the cell called the “peroxisome.” Recent studies have shown that the drug chloroquine can improve peroxisome function, and Dr. Benson will test chloroquine as a potential sight-saving treatment for patients who have a PEX6 mutation.

Read more about this project.

Scientific Title: A platform to identify new drug targets for retinitis pigmentosa

Lead Investigator: Dr. Rod Bremner
Institution: Lunenfeld-Tanenbaum Research Institute, Sinai Health System
Granted: $300,000 over 2 years

People living with retinitis pigmentosa experience gradual vision loss which is caused by the death of light sensing cells in the retina, called photoreceptors. In this project, Dr. Bremner and his team will use a high throughput technology to identify proteins that are causing the cell to die. They will then test drugs to stop this from happening.

Funded in part by Rita and Glen Popwich & Don and Nita Reed

Watch Dr. Bremner’s talk on the importance of funding vision research.

Scientific Title: Improving the understanding and management of non-infectious uveitis using proteomics profiling, database studies with machine learning and decision modelling approaches

Lead Investigator: Dr. Tina Felfeli
Institution: University of Toronto
Granted: $60,000

Non-infectious uveitis is a group of inflammatory eye conditions that can lead to vision loss. While the condition is treatable, a large proportion of patients develop complications which can lead to vision loss. Dr. Felfeli’s research aims to identify better diagnostic and treatment strategies for individuals living with non-infectious uveitis. Using proteomics, artificial intelligence, and economic modelling techniques she hopes to offer treatment pathways with fewer complications, ultimately helping to reduce the risk of vision loss.

Dr. Tina Felfeli is the recipient of the Andrew and Valerie Pringle Inspiring Future Vision Star award.

Scientific Title: Development of a new differential visual acuity test for infants with blindness and vision loss

Lead Investigator: Dr. Susan Leat
Institution: University of Waterloo
Granted: $171,300 over 2 years

Detecting vision loss early is important so children can receive sight-saving treatments or get support to improve their quality of life. Currently it is hard to diagnose children who are younger than three years old as the tests rely on children being able to identify letters or match shapes. Dr. Leat’s team has developed a new test for children. This project will determine whether these tests are more sensitive and effective than current tests, which would facilitate earlier diagnoses for children.

Scientific Title: Intravenous rAAV MiniPromoter-PAX6 gene therapy for the congenital blindness aniridia

Lead Investigator: Dr. Elizabeth M Simpson
Institution: University of British Columbia
Granted: $296,747 over 2 years

Aniridia is an eye disorder where the iris, the coloured part of the eye, is partially or completely absent. Individuals with aniridia usually have low vision from birth and develop glaucoma and cataracts, which can lead to blindness. Most cases of aniridia are caused by a mutation in the PAX6 gene. Dr. Simpson and her team will test gene therapy as a new treatment option for this gene. The team will study the effectiveness of PAX6 gene therapy in an animal model of aniridia. This is an important step before this treatment can be considered for human trials.

Funded by the Estate of Doreen Powles

Scientific Title: Seeing into the future – understanding the long-term sequelae of Retinopathy of Prematurity

Lead Investigator: Dr. Tianwei Ellen Zhou
Institution: Université de Montréal
Granted: $60,000 over 2 years, 2020 – 2022

Dr. Tianwei Zhou is studying retinopathy of prematurity (ROP) – an eye disease that can happen in preterm babies. ROP causes abnormal blood vessels to grow in the retina. These vessels can leak or blead which can cause blindness if not treated. Dr. Zhou is studying if, even after treatment, babies with ROP are at a higher risk of vision loss as they age. By monitoring this, doctors may be able to better diagnose and treat vision loss in children and adults who had ROP.

Funded by the Estate of Doreen Powles

Learn more about Dr. Zhou’s research.

Scientific Title: Project OPEN: Diabetic Retinopathy Screening to Prevent Blindness

Lead Investigators: Dr. Michael Brent, Dr. Valeria Rac
Institution: Diabetes Action Canada and University Health Network

Vision loss from diabetic retinopathy is often preventable if it’s detected early, however up to 40% of people living with diabetes don’t get screened on an annual basis. Project OPEN is using administrative health data to identify people living with diabetes who have not had an eye examination in more than a year. Those identified are then offered a free screening appointment at a community health centre. The program has a particular focus on underserved communities living with diabetes, such as new immigrants, young people and those from low-income or marginalized communities, who may not realize that they are eligible to receive a preventative eye exam. The goal of this research project is to validate that this model can prevent vision loss and blindness through identifying and engaging patients and giving them improved access to eye screening.

Funded by The Toronto Dominion Bank

Read more about this project

Scientific Title: Bioengineered Cell Delivery Systems for the Transplantation of Stem Cell Progeny for Retinal Regeneration

Lead Investigator: Dr. Brian Ballios
Institution: University of Toronto
Granted: $80,000 over 3 years, March 2017 – March 2020

Dr. Ballios will use stem cells to generate the light-sensitive cells (photoreceptors) lost in many different blinding eye diseases and transplant those cells directly into the retina. He will explore more efficient ways of making photoreceptors from stem cells and develop new approaches to helping those transplanted cells survive and make connections in the damaged eye.

Read more about this project.

Scientific Title: Novel treatments for blindness caused by neurotrophic keratopathy: role of stem cells, innervation, and therapeutics

Lead Investigator: Dr. Gregory Borschel
Institution: The Hospital for Sick Children, Research Institute
Granted: $300,000 over 2 years

Neurotrophic keratitis is a degenerative disease that affects the clear outer layer of the eye, called the cornea. In patients with neurotrophic keratitis, nerves in the eye are damaged and the cornea loses the ability to sense stimulation. This leads to scarring, and eventually vision loss. In this project Dr. Borschel’s team will use an animal model of neurotrophic keratitis which they have developed to test strategies to improve nerve regeneration and to identify drugs that can increase the ability of the cornea to heal. Learn more about Dr. Borschel’s project.

Scientific title: Treatment of BBS10 in the mouse Bbs10-/- model using the Human BBS10 gene in 2 different vectors

Lead Investigators: Dr. Arlene Drack
Institute: University of Iowa
Granted: $758,117 over 2 years

Bardet-Biedl syndrome (BBS) is a rare, inherited disorder that affects many parts of the body including a person’s vision. Dr. Drack is testing if a new gene-replacement therapy improves vision in an animal model of BBS10 with the aim of bringing a successful treatment to clinical trials in the near future.

Scientific Title: Preclinical evaluation of an iPSC-derived photoreceptor therapeutic in canine models of retinitis pigmentosa

Lead Investigator: Dr. David Gamm
Institution: University of Wisonsin-Madison
Granted: $800,000 over 2 years, December 2018 – December 2020

Dr. Gamm is conducting critical pre-clinical studies to test the safety and effectiveness of a potential stem-cell replacement therapy for people living with late-stage retinitis pigmentosa.

Read more about this project.

Institution: University of Toronto
Granted: $1,000,000

This award will help establish a professor position focused on the genetics of eye disease at the University of Toronto. This position will spearhead development of an Ocular Genetics Research Centre in Toronto to promote genetic testing, research and clinical trials into blinding eye diseases.

Funding provided by the Hill family.

Scientific Title: Developing a “photo-switch” drug for light-sensitive cells

Lead Investigator: Dr. Richard Kramer
Institution: University of California, Berkeley
Granted: $300,000 over 3 years, May 2018 – May 2021

Dr. Kramer is developing a “photo-switch” drug with the potential to restore sight by “switching” cells that are not light-sensitive into cells that are light-sensitive. We are proud to be funding Dr. Kramer’s research in partnership with the Foundation Fighting Blindness in the United States. We collaborate closely with our friends south of the border to ensure that we are not duplicating efforts. We strategically work together to better achieve our shared goal of driving the development of new sight-saving treatments.

Read more about this project.

Scientific Title: Choroideremia: expanding our understanding, exploring treatments

Lead Investigator: Dr. Ian MacDonald
Institution: University of Alberta
Granted: $200,000

With support from FBC, Dr. Ian MacDonald initiated the first clinical trial for an ocular gene therapy in Canada. This follow up grant will Dr. MacDonald to study the long term safety and effectiveness of this approach for choroideremia, an inherited retinal disease. This study is an exciting step towards finding a treatment for choroideremia and has been instrumental in increasing Canadian expertise to conduct clinical trials for other innovative treatments.

Read more about Dr. MacDonald

Scientific Title:Development of a Neogenin Based-Strategy to Prevent Photoreceptor Degeneration

Lead Investigator: Dr. Philippe Monnier
Institution: Krembil Research Institute
Granted: $200,000 over 2 years

Duration: December 2018 – December 2020

Summary: Dr. Monnier is developing a new drug that has the potential to preserve both rod and cone photoreceptors. His research plan includes key components of a full drug development pipeline that extends from discovery of lead compounds to a translational strategy aimed at initiating clinical trials. Dr. Monnier has evidence that this drug could be effective for people living with retinitis pigmentosa as well as other diseases that involve the loss of photoreceptor cells, such as age-related macular degeneration.

Scientific Title: Combined Cell and Gene Therapy Towards the Treatment of Age-Related Macular Degeneration

Lead Investigator: Dr. Andras Nagy
Institution: Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital
Granted: $770,000 over 4 years, July 2018 – June 2022

Dr. Nagy aims to RESTORE SIGHT by developing a new therapy that combines both stem cells and gene therapy to offer patients with wet age-related macular degeneration a ‘one shot’ permanent treatment.

Support provided by the Cedric Ritchie Fund to Cure Blindness

Read more about Dr. Nagy

Scientific Title: Adeno-associated virus-mediated gene therapy as a treatment for Fuchs endothelial corneal dystrophy

Lead Investigator: Dr. Stephan Ong Tone
Institution: Sunnybrook Health Sciences Centre and Sunnybrook Research Institute
Granted: $60,000

Fuchs endothelial corneal dystrophy (FECD) is a disease that can disrupt vision, causing blurred or cloudy vision and pain, due to fluid accumulation in the cornea. The main treatment for advanced FECD is corneal transplant surgery, but more treatment options are needed. Dr. Ong Tone will be developing a CRISPR-based gene therapy to treat FECD. This research could ultimately lead to personalized gene therapy treatments for patients with FECD.

Scientific Title: Anti-apoptotic therapy for the treatment of retinitis pigmentosa

Lead Investigator: Dr. Catherine Tsilfidis
Institution: Ottawa Hospital Research Institute
Granted: $430,000 over 2 years, December 2018 – December 2020

Dr. Tsilfidis is conducting essential pre-clinical studies to test the safety and effectiveness of a potential new gene therapy treatment for retinitis pigmentosa (RP). She is using a broad-based approach that targets a common feature to all forms of RP – the death of the photoreceptors. Her team is studying the X-linked inhibitor of apoptosis (XIAP) as a therapeutic for the treatment of RP. XIAP is a universal therapy that promotes photoreceptor survival, irrespective of the initial cause of disease.

Read more about this project.

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