Rare Disease

Alzheimer’s treatment appears to alleviate memory loss in small trial

Alzheimer’s treatment appears to alleviate memory loss in small trial

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 […]

Genetic Tests for a Heart Disorder Mistakenly Find Blacks at Risk

Genetic Tests for a Heart Disorder Mistakenly Find Blacks at Risk

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 […]

The ups and downs of data sharing in science

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 […]

Genome study offers new hope for children with rare diseases


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. […]

These Are the Genes Behind Healthy Aging

Senior woman exercising with weights by beach

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

Clues to a Family’s Heart Disease


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

Should you edit your children’s genes?

Should you edit your children's genes?

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 […]

Paternal Age: Risk of Offspring with Rare Disease

Paternal Age Risk of Offspring with Rare Disease

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 […]

Genetic Engineering’s New Frontier

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 […]

Rare Gene Mutations Inspire New Heart Drugs


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.

Hundreds with genetic conditions denied treatment abroad

Hundreds with genetic conditions denied treatment abroad

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, […]

ExAC project pins down rare gene variants


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 […]

Fixing fate

Fixing Fate

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 […]

What Is Alzheimer’s Disease?


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 […]

Encore une fois


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 […]

Hepatitis C Deaths in U.S. Rose in 2014, but New Drugs Hold Promise


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 […]

Is the end in sight for meningitis?


(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 […]