Investigative Diseases

Investigative Diseases

Scientists at the Centre for Molecular Medicine and Therapeutics work together and build partnerships locally, nationally, and internationally to understand disease and find ways to help children, families, and communities lead healthier lives.


The following diseases receive substantial time and attention from our investigators.

Adverse Drug Reactions (ADRs)
We aim to identify genetic markers that can predict severe ADRs and implement them in cost-effective diagnostic screening programs.

Amyotrophic Lateral Sclerosis
We are at the forefront of ALS research. Recently, we led an international team of researchers which discovered a gene that causes juvenile ALS.

Aniridia is a rare congenital eye disorder in which individuals are typically born with low vision, and because there is no effective treatment, subsequently lose all vision.

We aim to uncover the underlying genetic causes of asthma by focusing on how changes in chromatin structure can influence its onset, progression, and severity.

Following our discovery a gene critical in preventing atherosclerosis, we are working to develop genetics-based therapeutic options to treat this disease.

We investigate the role of epigenetic factors in the onset and progression of various forms of cancer.

Congenital Blindness
Newborns that are visually impaired at birth. Causes can be genetic, or infection to the developing fetus.

Developmental Disorders
We study both single gene and more complex developmental disorders using an integrated experimental model system.

Frontotemporal Dementia
With the help of transgenic mice, we are working to discover the underlying genetic causes of frontotemporal dementia and similar neurodegenerative diseases.

Huntington's Disease
We are a leader in Huntington's disease research in Canada. We were the first to develop a mouse model for Huntington's disease, and the first to develop an intervention to arrest its progress in mice.

Hyperlipidemia (Tangier Disease)
By studying ABCA1, a gene critical for the production of HDL, we aim to find ways to increase the body's production of HDL and reduce the effects of hyperlipidemia.


In addition to the aforementioned focus diseases, we also directly and indirectly study other important diseases.

  • Alzheimer's Disease
  • Ataxia-Telangiectasia
  • Autism
  • Cerebral palsy
  • Chorea-Acanthocytosis
  • Chronic Obstructive Pulmonary Disease (COPD)
  • Cohen's Syndrome
  • Congenital Cataracts Facial Dysmorphism Neuropathy
  • Coronary Artery Disease
  • Corticobasal Degeneration
  • Dementia
  • Diabetes
  • Dystonia
  • Epilepsy
  • Essential Tremor
  • Fetal Alcohol Spectrum Disorder (FAS, FASD)
  • Fragile X Tremor Ataxia Syndrome (FXTAS)
  • Hermansky-Pudlak Syndrome
  • Lew Body Dementia
  • Metabolic Syndrome
  • Multiple System Atrophy
  • Parkinson’s Disease
  • Progressive Supranuclear Palsy
  • Schizophrenia
  • Seckel Syndrome
  • Strabismus
  • Stroke