INNOVATION
Genomics is cutting-edge, innovative science and the Centre for Genomics Enhanced Medicine is the vehicle driving the translation of this science into clinical implementation. CGEM provides the opportunity for new collaborations and enables researchers to work with clinical colleagues on acquired and inherited diseases.
CGEM RESEARCH AREAS
GENETIC DISEASE DIAGNOSIS
Having an accurate diagnosis is often the first step to improving the care for those living with a hereditary or orphan disease therefore CGEM invests heavily in gene discovery. As a result CGEM researchers were the first to discover several genes linked to orphan diseases found in Atlantic Canada’s population and then verified in patients world-wide.
GENETIC DISEASE DRUG DEVELOPMENT & TRIALS
CGEM’s genomics research on FEVR, an inherited childhood blinding disease, has opened the door to a potential new drug for its treatment. This new drug should allow FEVR patients to have life-long normal vision, a substantial improvement over the current laser surgery treatment that prevents further vision loss but does not improve vision in children who develop complications of FEVR.
CGEM clinicians are also recruiting patients for the world’s first gene therapy clinical trial to help people with Fabry disease. Fabry disease is an inherited enzyme deficiency that causes fatty materials to build up in cells and damages the kidneys, heart and brain. Gene therapy involves inserting a corrected functional gene into the patient’s stem cells which are transplanted back into the donor patient. The hope is the inserted gene will make the missing enzyme and be a more permanent and effective treatment for Fabry disease. Currently, Fabry disease is managed by bi-weekly intravenous enzyme replacement therapy (ERT) but this not a cure and costs around $300,000 per patient each year.
MEDICAL MICROBIOME
Trillions of bacteria live on and in our body. With advancements in DNA sequencing, CGEM is able to precisely profile an individual’s microbiome. CGEM geneticists and gastroenterologists are using dietary therapy to change the microbiome to treat Crohn disease. The CGEM team is now working to determine how intentionally altering the medical microbiome can be used to tailor treatments for a range of conditions, including immunological diseases, cardiovascular diseases, diabetes, asthma, mood disorders and inflammatory conditions of all kinds.
CANCER DIAGNOSIS & TREATMENT
Using genomics to discover the genes that drive a tumor’s growth, CGEM medical geneticists have identified, for the first time, a change in a gene that can predispose people to stomach cancer. The hope is to develop a new genetic test to screen at-risk patients to help clinicians diagnose the disease in its earliest stages. Additionally, CGEM clinicians are using expanded genomics to screen for mutations for several cancers so clinicians can choose the best drug combination to treat a person’s cancer. This precision approach is a leap forward over previous methods for cancer treatment.
ETHICS & POLICY
The integration of genomics into not only drug discovery and development, but also clinical care, raises challenging legal, ethical, and policy questions. Through its collaborations with legal scholars, bioethicists, knowledge translation researchers and social scientists, CGEM engages critical issues across the research spectrum, from how to return genomics results to research participants during early stage research, to ensuring the responsible development and implementation of genomics-based interventions in health care systems.
Clinical Trials
Given the research expertise and resources within CGEM, there are several clinical trials being conducted by our member network. These are some current trials:
Autologous Stem Cell Transplantation - Phase 1
A phase 1 clinical trial testing a gene transfer therapy. With funding from the Canadian Institutes of Health Research, scientists have re-engineered a virus to deliver a normal functioning GLA gene into the cells of Fabry patients. This could potentially be a more permanent and effective treatment for Fabry disease. Dr. West is leading Halifax segment of this national trial and currently recruiting patients. “This trial is a first in Canada, a first in the world, and that’s pretty exciting,” he says.
Congenital Sideroblastic (CS) Anemia - Phase 2
CGEM researchers have discovered the gene that causes CS anemia, a disease that requires frequent blood transfusions. The team is now in Phase 2 clinical trials testing pyridoxine, an FDA approved drug, as a more targeted and less costly treatment for CS anemia.
Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome.
Enzyme Replacement Therapy for Fabry Disease: A Model for the Integration of Rare Disease Therapeutics Into the Canadian Health Care System.
Use of a Novel Diet (UC DIET) for Treatment of Mild to Moderate Active Pediatric Ulcerative Colitis.