Current Research

Every year, the Foundation Fighting Blindness funds millions of dollars of research taking place in hospitals and universities across Canada. This research is the backbone of our organization and our primary tool for identifying causes, treatments and, ultimately, cures for retinal eye diseases.

Currently, we are funding 23 new and ongoing studies, as described below. They are categorized by colour to illustrate the three major focuses of our research:

Understand - To comprehend the causes and effects of eye diseases
Preserve - To retain and protect vision for people living with retinal diseases
Restore - To repair retinal diseases and cure these conditions outright

Discovering new genes and treatments for inherited retinal eye diseases (Dr. Koenekoop)

Scientific Title: Discovery of new genes, new disease pathways and new treatment avenues in Retinitis Pigmentosa and Leber Congenital Amaurosis
Lead Investigator: Dr. Robert Koenekoop
Institution: Montreal Children’s Hospital / McGill University Health Centre Research Institute
Granted: $240,000 over 3 years, July 2013 – June 2016

Photo: Dr. Robert Koenekoop

The team will now concentrate their efforts on identifying disease-causing mutations. These gene discoveries will help to UNDERSTAND the causes of disease and develop treatments and will have an immediate impact for our patients.

Read more stories about Dr. Koenekoop.

Studying how a new gene causes extreme colour blindness (Dr. Wallace)

Scientific Title: Investigating the role of Ccdc136 in cone function and Achromatopsia
Lead Investigator: Dr. Valerie Wallace
Institution: University Health Network, Toronto
Granted: $240,000 over 3 years, July 2014 – June 2017

Photo: Dr. Valerie Wallace

Dr. Wallace’s research is helping us to UNDERSTAND VISION LOSS by studying how mutations in a new gene, discovered in her laboratory, leads to vision loss and colour blindness.

Support: Project supported by an award from the Krembil Foundation

Read more stories about Dr. Wallace.

Studying how the cells that surround and protect the retina are formed (Dr. McFarlane)

Scientific Title: Movement of Retinal pigment Epithelium Cells during Development and in Injury
Lead Investigator: Dr. Sarah McFarlane
Institution: University of Calgary
Granted: $240,000 over 3 years, July 2015 – June 2018

Photo: Dr. McFarlane
Dr. McFarlane’s research informs our core of UNDERSTANDING VISION by studying how retinal pigmented epithelial (RPE) cells respond when the retina is injured. Increasing our understanding of RPE cells is critically important because these cells are being used in clinical trials to treat vision loss.

Read more stories about Dr. McFarlane.

Developing a new therapy for Leber Congenital Amaurosis (Dr. Gregory-Evans)

Scientific Title: Novel Therapy for Leber Congenital Amaurosis 
Lead Investigator: Dr. Cheryl Gregory-Evans
Institution: University of British Columbia
Granted: $236,906 over 3 years, July 2014 – June 2017

Dr-Cheryl-Gregory-Evans

Photo: Dr. Cheryl Gregory-Evans

The project aims to PRESERVE SIGHT by developing an eye-drop to fix mutated cells. The START eye-drop is currently in a clinical trial for the inherited nonsense mutation that causes another blinding disease (aniridia)- and expanding it to examine if it could work for LCA.

Project supported in part by a donation from the Leoganda Family.

Role of fatty acid energy metabolism in age-related macular degeneration (Dr. Joyal)

Scientific Title: Role of Fatty Acid Energy Metabolism in Age-Related Macular Degeneration
Lead Investigator: Jean-Sébastien Joyal
Institution: CHU Sainte-Justine
Granted: $278,179 over 3 years, July 2014 – June 2017

Photo: Dr. Joyal
This study aims to PRESERVE SIGHT by learning how the cells of the eye process both sugars and lipids. By doing this, Dr. Joyal aims to identify new drug targets for AMD treatment, that would allow the aging eye to use energy more effectively and preventing abnormal blood vessel growth.

Support: Project supported in part by a gift from the Mr. and Mrs. Po Ting Ip Memorial Fund for AMD research.

Read more stories about Dr. Joyal.

Canada's first clinical trial of a gene therapy for a blinding eye disease (Dr. MacDonald)

Scientific Title: Choroideremia: Expanding our understanding, exploring treatments

Lead Investigator: Dr. Ian MacDonald, University of Alberta (Principal Investigator)

Collaborators:
Dr. Tania M Bubela, University of Alberta
Dr. Elena Posse de Chaves, University of Alberta
Dr. Yves Sauve, University of Alberta

Institution: University of Alberta
Granted: $1.35 million over 5 years, Jan 2012 – Dec 2016

Photo: Dr. Ian MacDonald
Dr. MacDonald and his colleagues will undertake the first human clinical trial of a treatment for choroideremia in Canada, as well as continuing their basic science investigations of the disease’s underlying causes.

Additional Collaborators: Matt Tennant, University of Alberta; Robert MacLaren, Oxford, UK; Miguel Seabra, Imperial College, London, and Elise Heon, Sick Children’s Hospital, Toronto.

Partnership: A partnership project funded by the Foundation Fighting Blindness; the Institute of Genetics as well as the Institute of Neurosciences, Mental Health and Addictions, Canadian Institutes of Health Research; and The Choroideremia Research Foundation Canada

Patient Registry: Project uses the Foundation Fighting Blindness Patient Registry

See the trial website for more details
http://www.chmgenetherapy.ca/

Read more stories about Dr. MacDonald.

Development of a drug that prevents photoreceptor death and vision loss (Dr. Monnier)

Scientific Title: Development of a Drug that Prevents Photoreceptor Death and Vision Loss
Lead Investigator: Dr. Philippe Monnier
Institution: Krembil Discovery centre, University Health Network, Toronto
Granted: $240,000 over 3 years, July 2016 – June 2019

Photo: Dr. Monnier
Dr. Philippe Monnier demonstrated that he could PRESERVE vision in two different laboratory models of retinitis pigmentosa (RP) by manipulating neogenin. Dr. Monnier is now focused on gathering essential pre-clinical data to enable a clinical trial testing a neogenin-based treatment for people living with RP.

Read more stories about Dr. Monnier.

Why does The drug valproic acid (VPA) prevent some forms of blindness and make others worse? (Dr. Moritz)

Scientific Title: Why does The drug valproic acid (VPA) prevent some forms of blindness and make others worse?
Lead Investigator: Dr. Orson Moritz
Institution: University of British Columbia
Granted: $240,000 over 3 years, July 2016 – June 2019

Photo: Dr. Moritz
Dr. Moritz has shown that the drug valproic acid (VPA) prevents blindness in some genetic forms of RP but worsens it in other forms. In this study, he aims to PRESERVE vision by identifying the exact enzymes that are involved in these effects to learn how they are impacting vision loss with the goal of discovering additional drugs that could be used to prevent blindness.

Read more stories about Dr. Moritz.

Using tissue engineering to develop new treatments for eye diseases (Dr. Proulx)

Scientific Title: Development of a RPE/choroidal substitute
Lead Investigator: Dr. Stéphanie Proulx
Institution: Université Laval
Granted: $240,000 over 3 years, July 2014 – June 2017

Photo: Dr. Proulx
This study aims to PRESERVE SIGHT by developing better mechanisms to tranplant RPE cells. Her work would help to inform the clinical goal of transplanting RPE cells to AMD treatments. Recently a very small trial has begun in the USA, where new RPE cells are transplanted into the retina to restore these foundation cells and protect a person’s central vision.

Read more stories about Dr. Proulx.

Impact of obesity on age-related macular degeneration (Dr. Sapieha)

Scientific Title: Impact of Obesity on Age-related Macular Degeneration
Lead Investigator: Dr. Przemyslaw (Mike) Sapieha
Institution: Hôpital Maisonneuve-Rosemont
Granted: $240,000 over 3 years, July 2016 – June 2019

Photo: Dr. Sapieha
Dr. Sapieha is exploring how the microbes of our body (the microbiome) affect obesity, the body’s immune response and ultimately the progression of AMD. By studying new wet-AMD pathways, he aims to identify new therapeutic targets for the disease that can help to PRESERVE sight.

Read more stories about Dr. Sapieha.

Using optogenetics to restore vision (Dr. Awatramani)

Scientific Title: Reprogramming Neural Circuits during Retinal Degeneration
Lead Investigator: Dr. Gautam Awatramani
Institution: University of Victoria
Granted: $300,000 over 3 years, July 2013 – June 2016

Photo: Dr. Awatramani
The team aims to RESTORE SIGHT by using combinations of light-sensing molecules to to change the response of vision cells– this is called neuromodulation. This is the first time that cell type-specific neuromodulators will be used to correct impaired visual function.

Read more stories about Dr. Awatramani.

Cell transplantation therapy for retinal degenerative diseases (Dr. Bernier)

Scientific Title: Pluripotent Stem Cells for the Study and Treatment of Retinal Degenerative Diseases
Lead Investigator: Dr. Gilbert Bernier
Institution: Hôpital Maisonneuve-Rosemont
Granted: $309,200 over 3 years, July 2015 – June 2018

Photo: Dr. Gilbert Bernier
Dr. Bernier aims to RESTORE SIGHT by developing cone photoreceptor cells that can be used for stem cell transplantation therapies.

Support provided by a Memorial Gift made in Honour of Shirley Curtis.

Read more stories about Dr. Bernier.

Regenerating photoreceptors to treat blinding eye diseases (Dr. Bremner)

Scientific Title: New roles for cell cycle proteins in regulating photoreceptor specification
Lead Investigator: Dr. Rod Bremner
Institution: Lunenefeld Tanenbaum Research Institute, Mt. Sinai Hospital
Granted: $300,000 over 3 years, July 2014 – June 2017

Photo: Dr. Rod Bremner
Dr. Bremner aims to RESTORE SIGHT by manipulating how cell cycle proteins are functioning in the eye. The ultimate goal is to harness the eye’s internal ability to regenerate (which is something that fish have the capacity to do).

Recipient of the Donna Green Award to Restore Sight

Read more stories about Dr. Bremner.

Combining stem cells and gene therapy to create a new treatment for age-related macular degeneration (Dr. Nagy)

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 Sanai Hospital
Granted: $225,000 over 3 years, July 2015 – June 2018

Photo: Dr. Andras Nagy
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 a Memorial Gift made in Honour of Cedric Ritchie.

Read more stories about Dr. Nagy.

Defining the connections and survival mechanisms of retinal interneurons (Dr. Picketts)

Scientific Title: Defining the connections and survival mechanisms of retinal interneurons
Lead Investigator: Dr. David Picketts
Institution: Ottawa Hospital Research Institute
Granted: $240,000 over 3 years, July 2016 – June 2019

Photo: Dr. David Picketts

Dr. Picketts aims to UNDERSTAND vision loss by studying how inner retinal neurons mature, what factors are important for their survival and how they integrate and modulate photoreceptor signals. This fundamental knowledge will increase the success of emerging therapies to treat retinal degeneration.

Whole genome sequencing of patients with early onset retinal dystrophies (Dr. Héon)

Scientific Title: Whole genome sequencing of patients with early onset retinal dystrophies
Lead Investigator: Dr. Elise Héon
Institution: The Hospital for Sick Children (SickKids)
Granted: $240,000 over 3 years, July 2016 – June 2019

Photo: Dr. Elise Heon

At SickKids, Dr. Héon and her team are only able to identify mutations in approximately half of the people who are diagnosed with a retinal degenerative disease. In this project, Dr. Héon will use the latest sequencing technology and a targeted strategy to identify the most number of mutations possible and test why these mutations lead to vision loss. The team aims to UNDERSTAND why these mutations lead to retinal degeneration with the goal of developing new treatment strategies.

Identifying new drugs to treat retinitis pigmentosa (Dr. Chang)

Scientific Title: Identifying new drugs to treat retinitis pigmentosa
Lead Investigator: Dr. Belinda Chang
Institution: University of Toronto
Granted: $40,000 over 1 years, July 2016 – June 2017

Photo: Dr. Belinda Chang

Dr. Chang’s research is focused on identifying new sight-saving drugs for retinitis pigmentosa. To do this, the team has developed an innovative and highly effective new test that will allow them to quickly screen a large volume of potential drug candidates with the ability to PRESERVE sight.

Project supported in full by a gift from the Estate of Frances Pauline Spence.

Overcoming Central Vision Loss with Stem Cell Therapy and Rehabilitation (Dr. Wallace)

Scientific Title: Overcoming Central Vision Loss with Stem Cell Therapy and Rehabilitation
Lead Investigator: Dr. Valerie Wallace
Institution: University Health Network, Toronto
Granted: $50,000 from FFB / $500,000 from Ontario Institute of Regenerative Medicine
Duration: February 2016 – February 2017

Read about this project.

Temporal identity factors: opening new avenues for cell therapy in retinal degeneration (Dr. Cayouette)

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 FFB / $990,000 from Canadian Institutes of Health Research (CIHR)
Duration: July 2016 – July 2021

Read more about this project.