Scientific Summary



Genetic/Genomics Activity

Ethical, Economic, Environmental, Legal and Social Aspects of Genomics (GE3LS) Activity

Ascertainment (Identification and Recruitment of Appropriate Research Subjects)


Individuals and families with orphan diseases caused by single gene mutations will be identified, recruited, phenotyped and undergo biomedical sampling.

There is a shortage of comprehensive information on the implications of orphan diseases. This phase will examine the burden that orphan diseases place on patients and their families, including comprehensive description of the conditions that will provide a baseline for measuring effects of newly identified treatments.

Gene Discovery

Identify genes responsible for the orphan diseases using genomics-based technologies, including genome sequencing, single nucleotide polymorphism scanning, homozygosity mapping and bioinformatics analysis.

There are many issues around the delivery of genetic information to research participants. This phase will explore the respectful disclosure of genetic/genomic information regarding orphan diseases with patients and their families.

Therapeutic Target Screens

Some orphan diseases are caused by single gene mutations that impact a cellular pathway. With drug intervention, some of those pathways can be modified to slow down the progression of the disease. This phase of the project will look for potential drug targets via yeast and human cell models by screening well-suited drugs and small molecules.


This is the most extensive phase of the project, and much more detail about the process can be found on our website.

For many reasons, some patients choose not to pursue testing or treatment for genetic disorders. But early detection and intervention is often key to reducing the impacts of the diseases. This phase of the study will seek to better understand patient understanding and attitudes toward genetic testing and treatments.

Drug and Small Molecule Identification

As drug targets are established in the previous stage, they will need to be tested for efficacy in a variety of ways, including human cell culture, zebrafish and mice. Key questions will relate to desired impact on the cellular pathway, appropriate dosage and adverse effects.

The development of new drug treatments for orphan diseases in Canada will depend in part on Canada’s policies relating to orphan diseases. This phase of the research will examine other countries’ orphan disease policies, and Canada’s place within that spectrum.