ARCHIVED - Research About – Genetics

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For the past 10 years, the Canadian Institutes of Health Research (CIHR) has supported better health and health care for Canadians. As the Government of Canada’s health research investment agency, CIHR enables the creation of evidence-based knowledge and its transformation into improved treatments, prevention and diagnoses, new products and services, and a stronger, patient-oriented health-care system. Composed of 13 internationally recognized Institutes, CIHR supports more than 13,600 health researchers and trainees across Canada. Through CIHR, the Government of Canada invested approximately $241.1 million in 2009–10 in genetics-related research.

The Facts

• In Canada, all stem cell treatments must be approved by Health Canada before use in a clinical trial or therapy. Some therapies – such as bone marrow transplants and skin grafting – have been proven safe and are in use. Others are still being studied¹
• One in every 3,600 children born in Canada has cystic fibrosis, the most common fatal genetic disease affecting Canadian children and young adults²
• A small percentage of people with Alzheimer’s disease (5–7%) have familial Alzheimer’s disease – formerly known as “early onset Alzheimer's disease.” At some point in their family history, certain genes mutated and developed the abnormal characteristics that cause the condition³
• The late Dr. Michael Smith, 1993 Nobel laureate for “contributions to the developments of methods within DNA-based chemistry,” came to the University of British Columbia after the posting he assumed he had at the University of Colorado fell through⁴

Sources:

1. Stem Cell Network: For the Public, FAQs
2. Cystic Fibrosis Canada: About Cystic Fibrosis, CF Statistics
3. Alzheimer’s Society: Alzheimer's Disease and Genetics: The role of genes in Alzheimer's disease
4. Canadian Medical Association Journal, Dr. Michael Smith and the path to the Nobel Prize, April 15, 1994

Finding Solutions

Mount Sinai team scores world first for regenerative medicine

Canadian researchers, working with colleagues in Scotland, are the first to find a way to safely grow stem cells from skin. Dr. Andras Nagy of Toronto’s Mount Sinai Hospital’s Samuel Lunenfeld Research Institute led a team of researchers who worked with the University of Edinburgh’s Dr. Keisuke Kaji, to successfully grow human stem cells without using viruses. The breakthrough builds on the 2007 discovery that “induced pluripotent stem cells” could be created from a patient’s own skin. The technique, however, meant using viruses to insert reprogramming genes into the genome of mature skin cells – which can increase the risk of cancer and developmental disabilities. Dr. Nagy found a non-viral way to reprogram the cells using a “jumping gene” – a tiny piece of DNA found in moths. The development marks a major advance for regenerative medicine.

‘Master switch’ protein holds key to cheaper drugs, shutting down E. coli

New knowledge about a protein that enables bacteria to survive could have important applications in cleaning up contaminated water supplies and finding cheaper ways to produce pharmaceuticals. Queen’s University researchers Drs. Zongchao Jia and Jimin Zheng reported in the journal Nature that they have created a three-dimensional model of a protein called AceK that helps bacteria cope with feast and famine. When the glucose supply gets scarce, the AceK protein triggers a shift to a low-energy production mode and the use of another substance, such as acetate, for survival. The discovery provides researchers with a target to prevent E. coli bacteria from surviving in low-nutrient environments such as the water supply. As well, the findings could be used to persuade bacteria used to produce medications such as insulin to switch to acetate instead of the more expensive glucose.

Discovery of dementia gene sparks international investigations

Dr. Ian Mackenzie of the University of British Columbia and the Vancouver Coastal Health Network is living proof of how scientific research has gone global. Since leading the 2006 discovery of a mutation in a gene called progranulin that triggers an inherited form of dementia, he has participated in international studies and collaborated with American colleagues at the Mayo Clinic and Yale University to successfully identify its receptor. Understanding how the gene’s receptor works could lead to new approaches to compensate for decreased progranulin production, which puts a person at risk of developing frontotemporal dementia. The condition, for which there is no cure and limited treatment options, can strike people in their 40s and 50s. “We and a number of groups have identified that looking at levels of progranulin in the blood allows you to predict who has the mutation,” says Dr. Mackenzie.

Researchers make surprising discovery about gene linked to MS, CMT

Serendipity played a large part in the discovery by a University of Alberta research team that a misfiring gene appears to contribute to myelin diseases such as multiple sclerosis (MS) and a related disorder called Charcot-Marie-Tooth disease (CMT). “If you had asked me my prediction before we did this work, the neuropathy would not even be on the list,” says Dr. Marek Michalak. “This is a good example of the importance of doing curiosity-driven research.” Allison Kraus, a PhD student working in Dr. Michalak’s lab, discovered that mice started showing symptoms common to MS and CMT when she disabled a gene called calnexin. Examination of the mice showed deformities in the myelin – the sheath that protects nerves – that are typical of both conditions. The next step will be to investigate whether MS and CMT patients show the same kind of signs of myelin damage as those found in the mice. “At the same time, in the background, we’re trying to find a way to correct that problem with drugs or molecules,” says Dr. Michalak.

For More Information

CIHR Institute of Genetics (CIHR-IG) supports research on the human and other genomes and on all aspects of genetics, basic biochemistry and cell biology. New advances in genetics and genomics, and in the understanding of how cells work, pose challenges to our health-care system and often raise complex ethical, legal and social issues. The Institute is addressing these challenges to develop solutions that benefit Canadians. To learn more about these priorities and other CIHR-IG activities, please visit the Institute’s website.