gene mutation

19 Stories

Lung Cancer Patients Benefit From 'Golden Age' of Research
On Lung Cancer Front,
an 'Amazing' Development
NEW STUDY

On Lung Cancer Front, an 'Amazing' Development

Drug combination found to bring longer control to patients with EGFR mutation

(Newser) - Lung cancer kills 1.8 million people every year, making it the leading cause of cancer death worldwide. With advances in precision medicine, however, doctors are helping prevent even more deaths, including with a drug combination just approved by the FDA in August. The results of a phase 3 trial...

On the Alzheimer's Front, 'New Avenues' Have Opened

Research suggests rare gene mutation helps delay onset of disease's symptoms in some individuals

(Newser) - Researchers have hit upon a genetic quirk that seems to delay onset of the symptoms of Alzheimer's disease—sometimes for years, or even decades. "It opens new avenues," says neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, a lead author of the new study published Wednesday in the...

Man's Brain Mutation Suggests a Way to Treat Alzheimer's
Alzheimer's Study 'Made
the Hair on My Arms Stand Up'
in case you missed it

Alzheimer's Study 'Made the Hair on My Arms Stand Up'

Man's genetic mutation staved off onset for decades, suggesting a future treatment

(Newser) - In one sense, the study subject's case is grim: He began showing signs of cognitive impairment at 67, developed full-blown dementia at 72, and died two years later, per STAT News . In another sense, his case is remarkable: He should have developed Alzheimer's in his early 40s because...

Urban Lizards Show 'Evolution as It's Unfolding'
Urban Lizards
Show 'Evolution
as It's Unfolding'
NEW STUDY

Urban Lizards Show 'Evolution as It's Unfolding'

'Anolis cristatellus' evolved to cling to windows and walls over 30 to 80 generations: study

(Newser) - Lizards that once dwelled in forests but now slink around urban areas have genetically morphed to survive life in the city, researchers have found, per the AP . The Puerto Rican crested anole, a brown lizard with a bright orange throat fan, has sprouted special scales to better cling to smooth...

This Is a 'Wake-Up Call' on Danger of Air Pollution
This Is a 'Wake-Up Call'
on Danger of Air Pollution
NEW STUDY

This Is a 'Wake-Up Call' on Danger of Air Pollution

Researchers discover how fine particulate matter triggers gene mutations to form lung cancer

(Newser) - For some of us, cells in our lungs mutate with age. These mutations seem perfectly healthy—until they come up against air pollution. The result is rapid changes in the cells that turn them cancerous, which could explain why people who've never smoked still develop lung cancer, according to...

Think Fish Don't Stink? You May Have This Mutation
Why Some People Think
Rotten Fish Smells Great
NEW STUDY

Why Some People Think Rotten Fish Smells Great

They aren't crazy but may have a rare gene mutation

(Newser) - If you don't mind the smell of rotting fish, you might be one of the rare people to possess a just-discovered gene mutation that hints at just how different people's smell and taste senses can be. Researchers in Iceland set out to learn more about the variants that...

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...

Deadly Insomnia a Devastating 'Family Curse'

One woman with FFI gene mutation hopes to find a cure

(Newser) - In 2010, Sonia Vallabh noticed her mother acting oddly. "She was fitful and couldn't really tell you if she'd been awake or asleep," Vallabh tells CNN . Soon, the 52-year-old couldn't recognize her daughter and would spasm and speak in tongues. Upon her death months later,...

An Answer for Cancer Patients Who Wonder 'Why Me?'
An Answer for
Cancer Patients
Who Wonder
'Why Me?'
new study

An Answer for Cancer Patients Who Wonder 'Why Me?'

Unavoidable typos in DNA help fuel cancer

(Newser) - Cancer patients often wonder "why me?" Does their tumor run in the family? Did they try hard enough to avoid risks like smoking, too much sun, or a bad diet? Lifestyle and heredity get the most blame, but new research suggests random chance plays a bigger role than people...

Her Doctors Couldn't Solve Her Health Mystery. Facebook Did

Tess Bigelow has incredibly rare USP7 mutation

(Newser) - Social media has helped solve the mystery of a young girl's health problems when her doctors couldn't. Bo Bigelow says his 6-year-old daughter, Tess, is non-verbal, has the mental capacity of an 18-month-old, and suffers gastrointestinal issues, periodic seizures, vision problems, and hip dysplasia—yet multiple tests failed...

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...

Why Some Smokers Don't Get Lung Disease
Why Some Smokers
Don't Get Lung Disease
NEW STUDY

Why Some Smokers Don't Get Lung Disease

They may carry genes that boost lung function: study

(Newser) - Smokers could soon benefit from new drugs that improve the function of their lungs, owing to the lucky few who smoke for years with little consequence. UK researchers scanned 50,000 smokers and non-smokers, including some who suffer from chronic obstructive pulmonary disease, and identified gene mutations that enhance lung...

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...

Study Raises Hopes for Alzheimer's Drugs

New gene mutation found that protects against disease

(Newser) - A new study in Nature offers what looks to be a genuine advance in the fight against Alzheimer's, one that raises hopes for a preventative drug in the future. Researchers discovered that a particular gene mutation prevalent in Icelanders slows the production of a substance called beta amyloid in...

Autism Tied to Gene Mutations for First Time

'It's a turning point,' says one scientist

(Newser) - Big autism news: A number of gene mutations linked to the disease have been uncovered for the first time, announced a number of scientists in three papers published yesterday. The sobering detail: These particular mutations are super rare, and are responsible for only a very small number of autism cases....

'Zombie' DNA Can Wake Up, Cause Disease

Long-inactive gene triggers form of muscular dystrophy

(Newser) - Geneticists have found the culprit causing a common form of muscular dystrophy—zombie DNA. Sort of. They've discovered that long-inactive genes—so-called junk DNA lying dormant in the human genome for thousands of years—"can rise from the dead like zombies" and cause trouble, explains Gina Kolata in the...

Monkeys Pass Altered Traits to Offspring

Genetic breakthrough will aid disease study, but troubles some

(Newser) - Japanese scientists have produced the first genetically modified monkeys that can pass on their new traits to offspring, a research breakthrough mired in ethical quandaries. The technique is meant to be used to infect monkeys with diseases like Parkinson’s and then test treatments on them, but could eventually be...

Heart and Gum Disease Linked by Gene: Study

Periodontitis patients should cut out risk factors, scientists say

(Newser) - Scientists have identified a link between gum disease and heart disease, the BBC reports, finding the same genetic variation in a group of patients with heart disease and a group with severe periodontitis. “Now we know for sure that there is a strong genetic link, patients with periodontitis should...

Heart 'Time Bomb' Ticking for 60M

1 in 100 have mutant gene that increases risk sevenfold

(Newser) - Scientists have discovered a mutant gene carried by 1% of the population which almost guarantees heart disease in later life, reports the BBC. Some 60 million people have the genetic time bomb, including 4% of the total population of India. The gene increases the risk of heart disease sevenfold, according...

19 Stories