genetic mutation

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197 Kids Born From Sperm Donor With a Dangerous Gene

Anonymous European donor passed on mutation that raises cancer risk

(Newser) - A donor whose sperm has been used to conceive at least 197 children throughout Europe carried a cancer-linked genetic mutation that went undetected for years, a cross-border investigation has found. The anonymous man—donor 7069, per Deutsche Welle —began donating to Denmark's European Sperm Bank in 2005, while...

New Therapy Puts the Brakes on Huntington's Disease

Experimental gene therapy slows brain decline by 75% in patients with the inherited fatal disease

(Newser) - Doctors say Huntington's disease has been successfully treated for the first time, offering hope for those affected by the inherited fatal condition. The condition, which typically strikes in a person's 30s or 40s and progresses over about 20 years, causes severe neurological decline, per the BBC . In...

Aspirin Slashes Risk of Colorectal Cancer Comeback
'Wonder Drug' Has
Another Apparent Perk
NEW STUDY

'Wonder Drug' Has Another Apparent Perk

Aspirin slashed risk of colorectal cancer coming back after surgery in new research

(Newser) - A daily low dose of aspirin could sharply cut the risk of colorectal cancer returning after surgery, according to a large Scandinavian trial. Researchers at Stockholm's Karolinska Institute tracked more than 3,500 patients who had surgery to remove colorectal tumors. Genetic screening revealed that roughly 40% of...

The Race to Escape Her Family's Fatal Gene Flaw
The Race to Escape Her
Family's Fatal Gene Flaw
LONGFORM

The Race to Escape Her Family's Fatal Gene Flaw

New York Times tells the story of a woman's fight to resist frontotemporal dementia

(Newser) - When Linde Jacobs' mother was in her 50s, her behavior changed dramatically. In a handful of years, Allison went from a stable matriarch to someone who shoplifted, drove recklessly, and began flouting boundaries and pinching strangers. While doctors blamed everything from menopause to psychiatric issues for the changes, Jacobs recognized...

Think Your Lab Is Too Chunky? There's a Reason
For These Dogs, a 'Double
Whammy' on Chonking Out
NEW STUDY

For These Dogs, a 'Double Whammy' on Chonking Out

Labradors, other flat-coated retrievers have genetic mutation that predisposes them to obesity

(Newser) - Every pet owner has to take care to keep their furry friends happy, healthy, and at a safe weight. For those who have a Labrador or flat-coated retriever in their charge, however, that last task might prove a bit more difficult. That's due to a "double whammy" with...

Sister's Death Helped Her Make a Wrenching Choice

Sasa Woodruff had to choose whether to live with a high risk of cancer or remove stomach

(Newser) - It was just a "hiccup in my genetic code," writes Sasa Woodruff at NPR . But that hiccup left her with a wrenching choice: Should she live with a high risk of cancer or have her entire stomach removed? In the first-person account, Woodruff explains that genetic screening—done...

Humans Are 'Literally Changing the Anatomy' of Elephants

Genetic mutation passes from tuskless females ignored by poachers in Mozambique

(Newser) - Human behavior is "literally changing the anatomy of animals," according to the author of a new study that finds decades of ivory poaching in Mozambique has encouraged the evolution of elephants without tusks . What was once a rare genetic mutation causing tusklessness in female elephants at Mozambique's...

Woman Feels No Pain, Didn't Realize It Until Age 65

Jo Cameron has been through several operations and childbirth without painkillers

(Newser) - It sounds like something out of a superhero movie: There's a woman living in Scotland who feels no pain. In a case report on Jo Cameron in the British Journal of Anaesthesia , scientists say they discovered two genetic mutations at play (one on a previously unidentified gene) and that...

Truth About Mummified 'Alien' Skeleton Revealed

'Ata' was human girl with severe genetic mutations

(Newser) - You can definitely see why the tiny mummified skeleton—found inside a leather pouch behind an abandoned church in Chile's Atacama Desert in 2003—had many claiming an alien had been discovered. The 6-inch skeleton—nearly 2 inches shorter than the shortest baby ever born—had a cone-shaped head,...

Her Disease Is Incredibly Rare. So Is Her Dad's Effort to Cure It
Her Disease Is Incredibly Rare.
So Is Her Dad's Effort to Cure It
IN CASE YOU MISSED IT

Her Disease Is Incredibly Rare. So Is Her Dad's Effort to Cure It

A look at the research into NGLY1 deficiency

(Newser) - Grace Wilsey is Chelsea Clinton's goddaughter. But that's not the only very rare facet of the 8-year-old's life. Four years ago she became one of the first children to be diagnosed with NGLY1 deficiency, a single genetic mutation that causes a host of problems, from muscle weakness...

We've Just Entered the World of Mutant Ants

Scientists for the first time alter their behavior by manipulating genes

(Newser) - Scientists have successfully altered a major behavior of two species of lab ants by deleting a single gene. As the Washington Post reports, the journal Cell has just published two papers chronicling the journeys of the first so-called mutant ants. One team reports on how one mutation removed a key...

Parents Desperately Trying to Raise $750K for Sick Son

Only a few children in the US have Niemann-Pick Type A, and all die young

(Newser) - Just weeks ago, a Boston couple learned their now-13-month-old son has an extremely rare and currently untreatable genetic disease called Niemann-Pick Type A, more colloquially known as "Baby Alzheimer's." In short, the boy suffers from a lethal mutation of a gene that prevents his body from processing...

Why This 2-Faced Calf Has the Perfect Name

Lucky walks in circles a lot, but she's the first two-headed calf to live past 40 days

(Newser) - For 40 days and nights, Noah's ark was said to have housed all variety of creatures—but probably not one like this, who just became the first of its kind to live past a similar 40-day mark, per National Geographic . Lucky the two-faced calf, who lives on a Campbellsville,...

Genes Help Predict When We Lose Our Virginity

Scientists exploring a possible link between onset of puberty and sexual activity

(Newser) - Sure, people become sexually active under countless circumstances for countless reasons and at many different ages, but at least part of the timing appears to come down to our genes, Cambridge University researchers report in the journal Nature . Studying the genes and life histories of nearly 400,000 people, they...

Vegetarian Ancestors Affect Your Cancer Risk

Those with gene mutation could overload on fatty acids

(Newser) - You've probably never given thought to what your ancestors stuffed down their gullets. Now might be the time. In a new study in Molecular Biology and Evolution, Cornell University researchers explain that people who come from a line of mostly plant eaters likely carry a gene mutation used to...

Family Loses Third Child to Inherited Disease
 Family Loses 
 3rd Child to 
 Inherited Disease 
IN CASE YOU MISSED IT

Family Loses 3rd Child to Inherited Disease

10-year-old girl dies from brain cancer

(Newser) - A Florida family has lost a child to cancer triggered by a rare genetic mutation, all the more tragic because it's the third time in six years this has happened to the Madings. Ten-year-old Isabella died this month at Children's Hospital in Pittsburgh of brain cancer that was...

Scientists Find Source of Rare 'Vibration Allergy'

Gene mutation leads body to release inflammatory chemicals: study

(Newser) - There's no such thing as good vibrations for those suffering from "the vibration allergy." Yes, that's a real thing. The rare inherited condition, known formally as vibratory urticarial, causes an allergic reaction in patients during the most mundane exercises—think mowing the lawn, jogging, riding the...

Mystery Disease Strikes Just One Family on the Planet

Joselin, Hilary Linder determined to wipe out strange genetic ailment

(Newser) - In the late 1980s, William Linder, a healthy 40-year-old doctor, came home from a vacation fatigued and with swollen legs. By 1996, he was dead, with the cause officially listed as "unknown." The years in between were full of gruesome symptoms: Swelling squeezed some of his veins so...

Down Syndrome 'Reversed' in Mice
 Down Syndrome 
 'Reversed' in Mice 
new study

Down Syndrome 'Reversed' in Mice

Researchers were able to affect the growth of the cerebellum

(Newser) - We'll start by tempering expectations: The breakthrough you're about to read about has "no direct link" to a human treatment, reports AFP , but it's noteworthy nonetheless. Scientists say they've identified a molecule that "reverses" the effects of Down syndrome in mice. The molecule is...

Doctors: West Nile Virus May Have Dangerously Mutated

But CDC says it hasn't seen evidence of that

(Newser) - The West Nile virus appears to be ramping up attacks on the brain, say two doctors who have been treating sufferers of the virus for years, prompting fears the virus has mutated into a more threatening form. Mississippi doctor Art Leis tells the Washington Post that for the first time,...

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