Sequencing of the exome – the protein-encoding parts of all the genes – is beginning to dominate the genetics journals as well as headlines, thanks to its ability to diagnose the formerly undiagnosable. The 2011 Pulitzer Prize in Explanatory Reporting honored the Milwaukee-Wisconsin Journal Sentinel’s coverage of a 4-year-old whose intestinal disorder was finally diagnosed […]Read more "10 Things Exome Sequencing Can t Do-but Why It s Still Powerful"
Every time a cell divides, there is a chance for a mutation (mistake) to occur in the DNA – the substance that carries genetic information in all living organisms. These mutations can lead to cancer. If all cells have a similar chance of developing cancer-causing mutations, then very large and long-lived animals with more cells […]Read more "Can the evolution of elephants show us how to treat, prevent cancer?"
New research suggests that salivary molecules hold potential as realistic diagnostic biomarkers in a bid to tackle Alzheimer’s disease.The study carried out by investigators at the Beaumont Research Institute and published in the Journal of Alzheimer’s Disease, reveals that spit could potentially provide clues to the future of brain health. Currently, Alzheimer’s has no cure, […]Read more "Spit Could Provide Clues to Brain Health"
Dr. Colby’s vision can be summarized in three words – PREDICT, PREVENT, PREVAIL. If science can predict the diseases for which you and your loved ones are at increased risk, we can take action to try to prevent them even before they arise. And if we can prevent disease, we prevail. Genetic technology now makes […]Read more "Outsmart your genes"
23andMe, a genetic testing startup that captured the national imagination a decade ago, appears to have fully emerged from the wilderness. The Food and Drug Administration has cleared the startup to market $199 genetic tests that will tell consumers not whether they have a condition like Parkinson’s or Alzheimer’s, but how likely they might be to […]Read more "23andMe Rides Again: FDA Clears Genetic Tests To Predict Disease Risk"
We’ve entered a new phase in the history of whole genome sequencing (WGS). Consider that researchers at University of Toronto just launched a massive project to sequence the whole genomes of 10,000 people per year. This is truly astounding when you recall that it took 13 years and $3 billion to sequence the first human […]Read more "The genomics intelligence revolution"
It was when my future wife came to visit me in America for the first time that I learned she detested whiskey, or more specifically Scotch whisky, the most popular spiritous liquor of her native Portugal. After some questioning, I suggested she try some Kentucky bourbon. Liking it, she declared, “But this isn’t whisky!” Some […]Read more "Do you Like Whiskey? Maybe It’s Your Genes"
There was no shortage of excitement (some might call it hype) about genomics and personalised healthcare in 2016, but for the vast majority of patients, the benefits of genomics remained tantalizingly out of reach. I have been wondering whether there are reasons to be more optimistic for 2017? Could this be the year that ‘patient […]Read more "Will 2017 be the year when genomic medicine becomes business as usual?"
Next generation sequencing (NGS), often referred to as massively parallel sequencing or deep sequencing, refers to a DNA sequencing technology that enables sequencing of millions of small DNA fragments in unison. This generates a massive pool of data and NGS has revolutionized genomic research studies. The data created can reach gigabytes in size (the equivalent […]Read more "History of Next Generation Sequencing"
Personalised medicine has become the “holy grail” of modern medical research and has been embraced by policy makers and healthcare providers as a route to more satisfied patients, more effective and efficient health services, potentially even reducing demand through more effective prediction and prevention of disease. But what do today’s health professionals make of this, […]Read more "Hilary Burton: Get on board with genomics—a call to all clinicians"