Type 1 diabetes is a disease in which the pancreas does not produce insulin, resulting in glucose accumulation in the blood instead of being used for energy.

The Challenge

Type 1 Diabetes (T1D) is a complex disease often arising in childhood in which the immune system destroys the insulin producing cells of the pancreas. Insulin is a crucial hormone in sugar and fat metabolism. Despite insulin therapy, T1D greatly increases the probability of heart attack, stroke, blindness and limb amputation, as well as shortened life expectancy.

• Canada has the third largest incidence of T1D in the world, affecting some 200,000 Canadians, including 45,000 – 90,000 Ontarians
• Ontario spends $5 billion a year on diabetes and associated conditions

The Research Solution

T1D is caused by multiple genetic risk factors and currently unknown environmental factors. Now an innovative research project is investigating the interactions of genetic risks and environmental factors underlying T1D.

Dr. Jayne Danska, Senior Scientist at Toronto’s Hospital for Sick Children and Professor in the Faculty of Medicine at the University of Toronto, and Dr. Andrew Macpherson, Canada Research Chair in mucosal immunology at McMaster University, are involved in a project that aims to understand how genetics can be used to control T1D in humans and rodent models. They will also study how exposure to common intestinal bacteria affects the development of the immune system and how such exposures affect the probability that people at genetic risk of T1D will develop the disease.

This project is expected to discover new genetic markers and identify environmental exposures that increase T1D risk, with the long-term aim of reducing disease risks through therapeutic intervention.

Successes to date

Several genes involved in diabetes have been discovered in tests carried out with mice. These tests have identified potential ways to help improve the immune systems in people with diabetes

The tests with mice has led to the building of a unique germ-free mouse facility in Toronto – one of only two in North America – that enables genomic analysis of animals with specific bacterial exposures under controlled conditions. This facility with its state-of-the-art technology will speed up research into diabetes and help discoveries be made quicker

This research is making great leaps towards reaching the ultimate goal of understanding how T1D is affected by environmental conditions, and armed with this understanding, researchers will be able to predict the body’s immune systems reaction to various treatments and environments, and even manipulate environmental factors to block or stop the development of the condition.

Associated Integrated GE³LS Research Project: Attitudes of Adults and Adolescents to Predictive Genetic Testing for Diabetes

Autism is a developmental disorder that appears in the first three years of life, and affects the brain\’s normal development of social and communication skills.

The Challenge

• Autism is one of the world’s most urgent public health challenges
• Around one in 120 newborns is likely to have autism spectrum disorder (ASD), making it more common than type 1 diabetes, childhood cancer and cystic fibroses combined
• The cost of treating autism is some $35 billion annually worldwide
• Genes are the most likely culprit in causing autism, whether directly or indirectly, in upwards of 80-90% of individuals with ASD

The Research Solution

• Drs. Stephen Scherer, Peter Szatmari and their team at The Hospital for Sick Children are using a $9.9 million LSARP award to help discover and characterize all of the genes involved in autism
• This ground-breaking work will mark Canada’s contribution to an ambitious international initiative that aims to sequence and analyze the genomes of 10,000 people with autism spectrum disorder.
• This work will help to facilitate early diagnoses, better medical management and individualize approaches to ASD treatment
• By discovering all the autism rick genes, studies of environmental influences in ASD will be possible

Successes 

• Numerous disease susceptibility genes have already been discovered and other genetic factors underlying autism have been defined
• Recently, Dr. Scherer and his team discovered that a number of autism cases are linked to a gene found on the X chromosome, helping to explain why boys are four times more likely than girls to develop ASD
• Current thinking is that there is over 100 different genes involved in autism, with 15% of those identified to date
• The hope is that this information will help the development of drugs to treat autism

For more information on autism, visit: www.autismspeaks.ca

 

The Challenge

Genetic diseases, while often rare, have, in aggregate, an enormous impact on the well-being of Canadian families, affecting the lives of approximately 500,000 children. The majority of genes causing these conditions are still unknown. These parents go through cycles of treatment and cost the health care system an inordinate amount of money considering the percentage of people affected. There is often no cure or any therapeutic treatment because the causes are unknown.

Genomics solution

Dr. Kym Boycott and collaborators used DNA sequencing to determine the causes of rare diseases that were put forward to the consortium by physicians across the country who deal with patients. The determination of the gene causing the diseases will then lead to a screening test for those particular disorders and also potential therapy options should the gene be identified in a well-known cellular pathway that drugs may have been designed for.

77 disorders were identified and four novel therapies were determined from this work. On a broader scale it showed the utility of these new genomic technologies to the clinical and to providing personalized care. While the economic modelling has not been done, the ability to know what gene causes a particular disorder and whether there is any therapy, will reduce the repeat visits to the clinic for the patients. In terms of quality of life, it is clearly of great benefit to the patients to get this information.

More information

• Project Description
• Care4Rare
• International Rare Diseases Research Consortium