Larger studies are under way to test whether the promising early data holds up. – By Erika Check Hayden A drug called aducanumab might remove the toxic proteins thought to trigger Alzheimer’s disease from the brain, suggests findings from a small clinical trial. The results, reported on 31 August in Nature1, showed that aducanumab broke up […]
By DENISE GRADY Genetic tests for an inherited heart disorder are more likely to have incorrect results in black Americans than in whites, according to a new study that is likely to have implications for other minorities and other diseases, including cancer. Mistakes have been made because earlier research linking genetic traits to illness did […]
When doctors in Ottawa saw a child with an unusual developmental disorder last year, they were stumped. Their patient had an abnormally small head and face and had been slow to develop. They sequenced the child’s genome hoping to find a genetic explanation, but came up with too many possible candidate genes to pinpoint a […]
An international team involving University of Queensland researchers has used advanced genome sequencing to diagnose 30 patients with unresolved rare diseases. The patients were among 70 people with disorders of the brain’s white matterand were examined using whole exome sequencing (WES)—a method that looks at all the genes in a person’s genetic code at once. […]
In one of the largest studies involving people who stay healthy into old age, researchers found some interesting clues behind how they get that way — and it has little to do with genes for longevity. Read More Here
The death of her son led Dardie Robinson to look for a genetic mutation that may be behind mysterious fatalities in her family. By RON WINSLOW | April 25, 2016 5:04 p.m. ET Read More Here
In the first six years of his life, Nic Volker, a Wisconsin boy born in 2004, beat the odds twice, in radically different ways. Read More Here
In the fierce debate about CRISPR gene editing, it’s time to give patients a voice. A couple of parents from the opposing team even stopped by to congratulate Ruthie, who had scored all of her team’s 13 points: “Wow, she’s unbelievable!” they told her mum and dad. What makes Ruthie’s performance even more extraordinary is her […]
Researchers take a closer look at the paternal age effect that increases older fathers’ chances of having a child with a rare disease Oxford scientists have for the first time been able to identify the origins of some severe disease-causing mutations within the testicles of healthy men. This discovery will help our understanding of […]
Humanity’s ability to alter nature, a characteristic of our species for thousands of years, has taken a big step forward. The ability to change the genetics of life to our liking was previously confined to domesticated creatures such as livestock and crops. It now extends throughout much of the biosphere, including ourselves. Genetic engineering on […]
From the moment the boy was born on a muggy Texas afternoon in May 2012, his parents, doctors, and nurses knew something wasn’t quite right. Read more here.
What if you carried a genetic mutation that left you nearly impervious to heart disease? What if scientists could bottle that miracle and use it to treat everyone else? Read more here.
They said it was their family curse: a rare congenital deformity called syndactyly, in which the thumb and index finger are fused together on one or both hands. Read more here.
Hundreds of families with inherited conditions who have been waiting up to two years for an appointment at the State’s main genetics centre are being deprived of their entitlement to treatment abroad. Two UK clinics have offered to help clear the huge backlog at the clinical genetics service in Our Lady’s Hospital in Crumlin, Dublin, […]
More than one million people have now had their genome sequenced, or its protein-coding regions (the exome). The hope is that this information can be shared and linked to phenotype — specifically, disease — and improve medical care. An obstacle is that only a small fraction of these data are publicly available. In an important […]
New medical cures may mean changes in drugmakers’ business models WHEN families leave the genetic institute at the San Raffaele Hospital in Milan, they are still anxious. Later, many will come to see the day their children received gene therapy as a blessed new start. Youngsters who had been sentenced to short lives, full of […]
Alzheimer’s disease can seem frightening, mysterious and daunting. There are still a lot of unknowns about the disease, which afflicts more than five million Americans. Here are answers to some common questions: Sometimes I forget what day it is or where I put my glasses. Is this normal aging, or am I developing Alzheimer’s? Read […]
The genomic era arrives. And this time it’s probably real WHEN the DNA sequence of the human genome was revealed in 2000, many people expected it to start a revolution. Researchers would be able to discover the genes that caused or influenced diseases. And drug companies would be able to use that knowledge to […]
Sovaldi, a drug that can cure hepatitis C, has a list price of $1,000 per daily pill, or $84,000 for a 12-week WASHINGTON — Deaths from hepatitis C in the United States continued climbing in 2014, the Centers for Disease Control and Prevention reported on Wednesday, but experts hope the trend will reverse over the […]
(CNN) Each year, millions are at risk of outbreaks of meningitis that sweep across 26 countries, known as the ‘meningitis belt.’ The bacterial disease infected a record 250,000 people — and caused 25,000 deaths — during an outbreak in 1996 and numbers have since come in annual waves, with rates of new infections as high 1 in […]