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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.

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 & Treatments

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:

Clinical Trials

Autologous Stem Cell Transplantation - Phase 1

Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease.


Gene Transfer Therapy (Fabry disease) - Phase 1

A new 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.


Partial Enteral Nutrition With a Unique Diet vs. Exclusive Enteral Nutrition for the Treatment of Pediatric Crohn's Disease. Interventional Study.


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The timing for CGEM to become Canada’s scientific and clinical hub for inherited and acquired genetic diseases is ideal. The Centre is able to leverage today’s advancements in genomic sequencing technologies and has local access to experts in drug-screening models and bioinformatics.


As discoveries are made, CGEM will foster an entrepreneurial ecosystem, working with commercial partners and Dalhousie University’s Industry Liaison and Innovation Office to create start-up companies to move new treatments to market. CGEM is also fostering talent to build a pool of new scientists and clinicians with expertise in translational medicine. ​

  1. Foster an entrepreneurial environment

  2. Initiate strategic partnerships to commercialize research discoveries

  3. Engage in responsible IP licensing to ensure meaningful patient access to developed technologies


CGEM works with families to develop tailored treatments for each patient. We are pleased to share our success stories that shine a spotlight on how innovative treatments are leading to best practices in genomic medicine.



Here is an overview of some ongoing projects within the CGEM network:


1. Familial Exudative Vitreoretinopathy (FEVR, or childhood blinding):

CGEM researchers are using zebrafish and mouse models to confirm a novel drug target and identify a therapeutic molecule (drug).


2.Congenital Sideroblastic (CS) Anemia:

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.

3. Parkinson's disease:

CGEM researchers are working on identifying a potential new treatment for the inherited form of Parkinson's disease by using zebrafish as a drug-screening tool.


4. Muscular Dystrophies:

CGEM's scientific team is using zebrafish as a drug-screening tool to generate drug leads for limb girdle muscular dystrophies (LGMD). 


5. Zebrafish Core Facility Project

To create a Contract Research Organization (CRO) that uses zebrafish to parse drug leads for a variety of inherited diseases from a client list to be provided by AGADA Bioscience. This partnership accelerates accurate decision making when determining orphan drug candidates.

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