Doctors in Europe used gene therapy to grow sheets of health skin that saved the life of a boy with a rare genetic disease that had destroyed most of his skin.
New research from Australia has shown that the combined affected pregnancy rate of cystic fibrosis, fragile X syndrome and spinal muscular atrophy is comparable to the population risk for Down syndrome. This highlights the need to offer carrier screening routinely, not just to those individuals with a family history.
The Autism Speaks MSSNG team announced the upload of an additional 2,030 fully sequenced genomes to the project’s cloud-based databank – making it the world’s largest whole genome resource for autism research. The MSSNG team includes Dr. Stephen Scherer and the Hospital for Sick Children (SickKids) in Toronto, Autism Speaks and Verily (formerly Google Life Sciences).
A genetic test that more accurately predicts the risk of developing breast cancer could soon be used on high-risk groups. Researchers behind the test, available in England only at this time, say it could reduce the number of women choosing pre-emptive mastectomy surgery. The blood test looks at 18 genetic variations, or single-nucleotide polymorphisms (SNPs), known to affect the chances of getting breast cancer.
Advances in precision medicine depend on the ability to share genomic information voluntarily, securely and responsibly. To achieve this, The Global Alliance for Genomics and Health (GA4GH) has struck formal collaborations with 15 international genomic data initiatives. Ontario and Canada lead or help drive at least three of these, CanDIG, ICGC-ARGO and Matchmaker Exchange. Genome Canada has also announced new operational funding for the GA4GH.
Alnylam Pharmaceuticals Inc. unveiled positive results from a late-stage clinical trial of the drug patisiran for the treatment of familial amyloidotic polyneuropathy. Patisiran works by interrupting the production of a specific disease-causing protein through a process called RNA interference (RNAi), which eliminates unwanted proteins. Because RNAi can be easily tuned (in theory) to any disease, this may herald a new class of medicines.
The founding principle of Toronto-based Deep Genomics is “that the future of medicine will rely on artificial intelligence (AI), because biology is too complex for humans to understand.” After success at the startup assistance program run by University of Toronto’s Creative Destruction Lab, Deep Genomics has now closed a Series A financing deal that will allow it apply AI to search across 69 billion molecules to identify 1000 potential drugs.
Understanding a cancer’s genetics is key to selecting targeted therapies that are likely to be of the most benefit to a patient. The Ontario Institute for Cancer Research (OICR) announced the “OCTANE” study that will use next-generation genome sequencing to select the best treatment option for participants.
Doctors at Sick Kids have developed tests to analyze the molecular makeup of individual brain tumours, leading to the possibility of personalized treatment. Hospitals from around the world are sending their patient’s tumour samples to Sick Kids for this molecular analysis.
Sun Life Financial will be offering plan members on short- and long-term disability leave for depression or anxiety the chance to take part in a study on the impact of pharmacogenetic testing. The insurer is participating in a study that examines the effectiveness of the technology in partnership with the Centre for Addiction and Mental Health and personalized medicine provider Assurex Health Inc.