medical genetics

Improving whole-genome sequencing as a clinical test for intellectual disability

Intellectual disability (ID) is a life-long affliction that impairs the cognitive functioning and adaptive behavior of affected individuals. About two to three percent of people worldwide suffer from ID. ID is mostly caused by irregularities in the DNA of an individual and is the most common reason for genetic testing. There are thousands of different mutations that we now know can cause ID. Diagnosis is necessary for accurate and effective genetic counselling, however deciphering the underlying genetic component remains a challenge.

Primary Investigator: 
Award Type: 
Year: 
2017

Unraveling the genetics of severe reactions to chemotherapy: Moving towards maximum benefit with minimal harm

Drug treatments are essential for the survival of cancer patients. Unfortunately, medications needed for treatment can also cause permanent disabling side effects, severely impacting on the quality of life of patients already suffering the devastating consequences of cancer.

Although platinum-based drugs such as cisplatin are highly effective and are the most frequently used class of cancer medications, they are also accompanied by severe side effects. In fact, up to 80% of patients treated with cisplatin lose some ability to hear and/or experience kidney injury.

Primary Investigator: 
Award Type: 
Year: 
2017

Genetic etiology of progressive multiple sclerosis

Multiple sclerosis (MS) is the most common cause of neurological disability in young adults, other than trauma, with over two million people affected worldwide. Approximately 100,000 Canadians have MS, a rate that is nine times higher than the global average. MS symptoms vary widely and may affect vision, hearing, cognition, balance, and movement; negatively affecting many aspects of quality of life. To date, there is no cure or prevention for MS.

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Award Type: 
Year: 
2017

Molecular detection of known and novel cancer predisposition genes

Diagnosis of inherited cancer susceptibility has implications for both the patient and their family, as certain drugs may be more effective in cancers caused by a patient’s inherited cancer risk. Carrier testing can also determine whether family members are at risk of cancer. Both the patient and at-risk family members may benefit from increased screening, surveillance and/or prophylactic cancer prevention measures. However, current gene-by-gene testing strategies are costly and time consuming.

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Year: 
2014

Genomic neighborhoods and inherited disease: the case for SIOD

While completing medical training in clinical genetics, Dr. Cornelius Boerkoel was consulted on two patients with a rare disease called Schimke immuno-osseous dysplasia (SIOD). At the time, there was little known about the disease, other than that it involved kidney failure and abnormal bone growth causing short height. Dr. Boerkoel’s early research in this area highlighted several previously unknown features of this disease, including the cause of SIOD: mutations (alterations) in both copies of a gene named SMARCAL1.

Primary Investigator: 
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Year: 
2008

The exploration of genetic conditions affecting the health of aboriginal people

Canadian aboriginal people have shorter life spans and an increased burden of disease compared to their non-native Canadian counterparts. As in all populations, complex disease—both genetically and environmentally determined—plays a significant role. For example, among the Inuit of Baffin Island, the prevalence of one type of congenital heart defect is four times as high as in other populations.

Primary Investigator: 
Award Type: 
Year: 
2006
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