Fabry disease is a rare genetic disease caused by a deficiency in the enzyme alpha-galactosidase A (a-Gal A) that causes a buildup of a specific type of fat in the body. Galafold™ (migalastat), a new oral drug to treat some patients with Fabry disease, has just received a positive recommendation by the CADTH Common Drug Review for reimbursement and listing with provincial drug formularies.
A new nanopore technology for direct sequencing of long strands of DNA has resulted in the most complete human genome ever assembled with a single technology, scientists have revealed. The research, published today in Nature Biotechnology, included scientists from the University of British Columbia and the Ontario Institute for Cancer Research (Jared Simpson, pictured above). Using an emerging technology – a pocket sized, portable DNA sequencer – the scientists sequenced a complete human genome, in fragments hundreds of times larger than usual, enabling new biological insights.
It’s not just diet and physical activity; your genes also determine how easily you lose or gain weight. Researchers at the Icahn School of Medicine at Mount Sinai and other institutions of the Genetic Investigation of Anthropometric Traits (GIANT) consortium found 13 genes that carry variations associated with body mass index (BMI). Some genes were linked to people who weighed above the average, and some below, and 8 of the 13 were newly implicated in obesity.
The use and recommendation of chemotherapy for women with both node-negative and node-positive early-stage breast cancer has declined in recent years, according to a recent survey. One of the survey authors, Dr. Allison Kurian, said in a press release “This likely reflects a change in the culture of how physicians are practicing, and a move toward using tumor biology to guide treatment choices rather than solely relying on clinical measures.” Lead author Dr. Steven Katz adds “Our study shows how breast cancer is a model for how doctors have driven advances in personalized medicine into the exam room to reduce overtreatment.”
Canada is one of the most ethnically diverse nations in the world. However, this diversity is largely missing from our growing collections of genomic data. Because genomic information is increasingly used in health care, what does this mean for our ethnic minorities, including Indigenous Canadians?
Scientists have tried editing a gene inside the body for the first time, in a bold attempt to tackle an incurable a disease by permanently changing a patient’s DNA.
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.