Main Menu
Main Menu
Menu

Autism: Genomes to outcomes

by Leave a Comment

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

 

Finding the cause of rare diseases

by Leave a Comment

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

First ever use of pharmacogenomics in primary care

by Leave a Comment

Challenge:

Mental illnesses are the result of a complex interaction between genetic and environmental factors. The recovery of people experiencing mental illness is a critical consideration for the Canadian healthcare system:

  • During lifetime about 20% of Canadians will experience some type of mental illness
  • Major depression (8%) and anxiety disorder (12%) are the most prevalent
  • At any time approx 10.4% of Canadians are suffering from acute or chronic mental illness
  • 79% of all short term disabilities and 82% of long term disabilities are related to mental illness, costing Canada $20.7 billion in 2012. (Conference Board of Canada estimate, July 2012).

However, many prescribed drugs are only effective about half the time, so finding the right medication is often the result of an ineffective trial and error approach, exposing patients to the risk of serious side effects and sustained suffering.

Genetic testing identifies patients who will not respond to specific medications or will experience side effects, thereby helping physicians prescribe the most appropriate drugs to each patient: maximizing the health benefits and decreasing the risk of side effects.

Genomics solution

Assurex Health is partnering with scientists at Toronto’s Centre for Addiction and Mental Health (CAMH) to develop the Enhanced GeneSight genomic test to better match patients with mental illness to antidepressant and antipsychotic medication based on their genes.

This project, funded through Genome Canada\’s GAPP program, will deliver genetic testing in the primary care setting to determine the best medication for each patient based on their unique genetic profile. Patients are asked for a sample of saliva or a cheek swab, from which DNA is extracted. This DNA is tested for a number of genes that control how drugs are metabolized, how drugs interact with their targets in the body and their side effects. A report is delivered to the patient’s physician within a day or two. This report, using Assurex Health’s GeneSight panel, helps guide the physician as to which of antidepressant or antipsychotic drugs are best suited to that patient – enabling them to thereby avoid ineffective medication and reduce unnecessary side effects.

The GAPP project will validate new genomic markers that scientists at CAMH have identified for their ability to predict efficacy and side effects of psychiatric medications, including those that predict which individuals are likely to experience weight gain after taking anti-psychotic medications. The most predictive markers will be integrated into E-GeneSight. This is anticipated to reduce the need for “trial-and-error” approaches to prescribing and increase the likelihood that people will respond optimally to the medications prescribed for them, while reducing side effects.

Impact

Giving patients the right medication earlier can reduce the burden of mental illness for patients and their families, decrease the risk of detrimental side effects, and improve the quality of life of those affected by mental illness. Furthermore, reducing ineffective treatments will save the health care system money: decreasing physician visits, and reducing rates and length of hospitalization. Patients who recover faster need fewer healthcare dollars, are able to return to work (contributing to the tax base) sooner, and assume their role in their family and community.

Collaborators

Assurex Health, a global leader in personalized medicine, has signed an agreement for a joint venture with the Centre for Addiction and Mental Health (CAMH).  AssureRx Canada has been established as a subsidiary of the U.S. company, and will have an office and laboratory at CAMH.

 

Read the project description.

Three OG seeded companies get additional funding

by Leave a Comment

InDanio Bioscience, Encycle Therapeautics made new research partnerships for research and drug development and RNA Diagnostics received angel investment.

Two SMEs, InDanio Bioscience and Encycle Therapeautics will partner with Toronto researchers and provide in-kind contributions to the $1.5M funding by CQDM and CIHR, through its institutes of Cancer Research, Genetics and Infection and Immunity medicine, for two translational projects in personalized medicine to accelerate drug discovery and drug development. In addition, RNA Diagnostics, a Sudbury-based medical diagnostic company, has successfully closed an additional round of angel investment with support of the NORCAT Innovation Mill Angel group. The Ontario Genomics Institute\’s Pre-commercialization Business Development Fund (PBDF) funded RNA Diagnostics in 2012, InDanio Bioscience in 2010.