Rare Disease

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 […]

A Husband and Wife’s Race to Cure Her Fatal Genetic Disease

A Husband and Wife's Race to Cure Her Fatal Genetic Disease

Sonia Vallabh and her husband, Eric Minikel, walked into an examining room at Brigham and Women’s Hospital on an unusually warm December morning in 2011, two months of waiting down to final minutes. She was about to learn if she carried a genetic mutation for a rare, fatal genetic disease that kills sufferers by stealing […]

Scientists Move Closer to Understanding the Cause of Schizophrenia

Scientists Move Closer to Understanding the Cause of Schizophrenia

Scientists reported on Wednesday that they had taken a significant step toward understanding the cause of schizophrenia, in a landmark study that provides the first rigorously tested insight into the biology behind any common psychiatric disorder. More than two million Americans have a diagnosis of schizophrenia, which is characterized by delusional thinking and hallucinations. The […]

Stem Cells Help Evaluate Experimental Alzheimer’s Drugs

Researchers evaluate experimental Alzheimer’s drugs by observing effects on neurons derived from stem cells. PHOTO: GETTY IMAGES

Researchers evaluate new treatments by observing their effects on neurons derived from stem cells Some Alzheimer’s disease researchers are using stem cells in a novel way—as a model of the disease outside the human body, enabling more efficient testing of experimental drugs in the lab rather than in clinical trials with people. Finding a drug […]