Dec 11, 2015
Top 10 Discoveries of 2015
In 2015, the Foundation invested in research to understand vision, preserve vision, and restore sight. All of the Foundation’s funded projects are “translational” research, which means that the long-term goal of each project is to develop new treatments for vision loss and blindness.
(Watch our video recap of the Top 10 Discoveries of 2015, or read on for the extended story).
To show how each discovery is moving us toward our goal of new treatments, we divided the top 10 discoveries of 2015 into three categories: 1) discovery research; 2) pre-clinical research; and 3) clinical trials. Ultimately, discovery research underpins all new treatments by generating the knowledge that is required for any kind of therapeutic intervention. Pre-clinical research is more directly focused on getting information to allow a specific treatment approach to be tested in humans. Finally, clinical research involves testing a new therapy on human subjects.
DISCOVERY RESEARCH → PRE-CLINICAL RESEARCH → CLINICAL TRIAL
1. UNDERSTANDING VISION – DISCOVERY RESEARCH
New Genetic Discovery Helps to Solve the Mystery of Childhood Blindness
Dr. Robert Koenekoop, Montréal Children’s Hospital
Dr. Michel Cayouette, Institute de Recherches Clinique de Montréal
When the Foundation Fighting Blindness was first established in the 1970s, we didn’t know any of the genetic mutations linked to retinal diseases. Since then, scientists have identified hundreds of different mutations and are pioneering a variety of gene therapies to treat blindness. Knowing the affected gene is essential to designing specific and effective treatments, yet many mutations remain unknown. We were especially happy to celebrate the discovery of the new blindness causing gene, PNLPLA6, because it involved a new collaboration between Dr. Michel Cayouette, the Chair of the Foundation’s Scientific Advisory Board, and Dr. Robert Koenekoop, a world-renowned clinician scientist, who is also pioneering a new gene therapy, thanks to the Foundation’s generous donors.
2. RESTORING SIGHT – DISCOVERY RESEARCH
Using Optogenetics to Restore Sight
Dr. Gautam Awatramani, University of Victoria
Optogenetics is an exciting field of research that combines techniques from optics and genetics to control brain cells with the flip of a light switch. Thanks to Dr. Gautam Awatramani’s basic discoveries about how eye cells function, his research can now take advantage of optogenetics. The team’s important research from 2015 offered new insights about a key cell type in the eye: amacrine cells. They discovered that these beautiful, star-shaped cells play an important role in transmitting contextual information about the environment (such as direction and size). Through their studies, they learned it is possible to “re-wire” these cells to suit the needs of the eye. With this new knowledge, Dr. Awatramani is ready to focus on using optogenetics to help with this re-wiring to restore vision.
3. RESTORING SIGHT – DISCOVERY RESEARCH
Fixing the Entire Visual Pathway
Dr. David Picketts, University of Ottawa
A significant focus of vision replacement therapy is to restore or replace dying photoreceptors (the light-sensing cells that are lost in many eye diseases). After the photoreceptors die, the surrounding eye cells (called inner retinal neurons) begin to look for new connections to other cells. Dr. Picketts’ critical discoveries about the health of these inner neurons, paves the way for new strategies to prevent vision loss because restoring sight will require fixing photoreceptors in addition to other parts of the visual pathway.
DISCOVERY RESEARCH → PRE-CLINICAL RESEARCH → CLINICAL TRIAL
4. PRESERVING VISION – PRE-CLINICAL RESEARCH
Linking Laboratory Research to Patient Communities
Dr. Robert Gendron and Dr. Hélène Paradis, Memorial University
Drs. Gendron and Paradis are searching for better treatments for age-related macular degeneration (AMD). In both of these diseases, vision loss is associated with leaky blood vessels in the eye. With funding from the Foundation Fighting Blindness, the team discovered a new protein, Tubedown (that is present in the normal eye), which helps to prevent retinal blood vessels from leaking. Importantly, they also discovered that people with wet AMD have a loss of Tubedown expression in the eye. In 2015, the team discovered how Tubedown works with other proteins (the c-Src/Cortactin pathway) to maintain the health of blood vessels in the eye, which points to new therapeutic targets to treat wet AMD.
5. PRESERVING VISION – PRE-CLINICAL RESEARCH
Two New Drug Targets to Slow the Progression of Retinal Diseases
Dr. Uri Saragovi, Lady Davis Institute
Dr. Uri Saragovi discovered two new target proteins that can be used to develop new therapies for retinal degenerative diseases, including retinitis pigmentosa, glaucoma, and diabetic retinopathy. They used small molecules to adjust the activity of these two proteins, which effectively slowed the rate of neurodegeneration and disease progression. Currently, the team is developing these small molecules into sight-saving drugs that function by controlling these proteins.
6. PRESERVING VISION – PRE-CLINICAL RESEARCH
Protecting Photoreceptors to Save Sight
Dr. Philippe Monnier, Toronto General and Western Hospital
Dr. Monnier is developing a new drug to stop photoreceptors from dying. They have had tremendous success studying the drug’s effectiveness in an animal model of retinitis pigmentosa. Their evidence shows that this new drug improves the survival of photoreceptors, and also improves the visual acuity and retinal function of the treated animals. In fact, they are so impressed with their laboratory “pre-clinical” studies that they are developing a strategy to test this drug in humans.
7. RESTORING SIGHT – PRE-CLINICAL RESEARCH
Discovery Uncovers the Mystery of How Stem Cells Become Photoreceptors
Dr. Michel Cayouette, Institute de Recherches Clinique de Montréal
Many different kinds of cells are needed to make an eye, but researchers are particularly interested in photoreceptors because these are the cells that are lost in eye diseases like retinitis pigmentosa and age-related macular degeneration. Making photoreceptors from stem cells is therefore an important first step toward developing effective sight-saving therapies. The team discovered one of the key genes involved in photoreceptor development – Casz1 – which plays a critical role in the timing of the developmental sequence. Dr. Cayouette suspects that the findings could open up new strategies to generate the specific types of photoreceptors that are needed for sight-saving transplantation therapies.
8. RESTORING SIGHT – PRE-CLINICAL RESEARCH
Stem Cell Transplantation for the Treatment of Retinal Degenerative Diseases
Dr. Gilbert Bernier, Hôpital Maisonneuve-Rosemont
Dr. Bernier developed a highly effective technique for producing light sensitive retina cells (cone photoreceptors) from human stem cells. His discovery opens the door to the large-scale tissue engineering that is needed for cell replacement therapies.
9. RESTORING SIGHT – PRE-CLINICAL RESEARCH
Combining Stem Cells and Gene Therapy for a New Sight-Saving Treatment
Dr. Andras Nagy, Lunenfeld Tanenbaum Research Institute, Mt. Sinai Hospital
Anti-VEGF drugs have become the gold standard for treating the wet form of age-related macular degeneration (AMD), but there is always room for improvement. Dr. Andras Nagy’s team recently developed a new anti-VEGF drug which they call “VEGF Sticky-trap.” They have engineered stem cells to create eye cells with the ability to secrete VEGF Sticky-trap. They are testing if transplanting these cells will work as a one-time treatment for wet-AMD. Combining cell and gene therapy to deliver drugs stands to transform our approach to medicine.
DISCOVERY RESEARCH → PRE-CLINICAL RESEARCH → CLINICAL TRIAL
10. PRESERVING and RESTORING SIGHT – CLINICAL TRIAL
Canada’s First Gene Therapy for a Blinding Eye Disease
Dr. Ian MacDonald, University of Alberta
This trial gives us hope and proof that laboratory science has the potential to transform into clinical research. With the long-time support of Foundation donors, Dr. MacDonald has identified the gene for choroideremia, developed the first predictive genetic test, and is now embarking on the first Canadian clinical trial. The therapy is a potential model for the treatment of many retinal diseases.
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