genetic disorders

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Patients Get Answers After 60 New Diseases Discovered

The developmentally disabled are benefiting from new findings in genetic disorders

(Newser) - A study analyzing the genetic code of thousands of children with unexplained genetic disorders and their parents has led to the diagnosis for roughly 40% of them and brought the identification of 60 new diseases. The study, published Wednesday in the New England Journal of Medicine , notes that "finding...

Parents Are Showing 3 Kids the World While They Can See It

Genetic disorder will cause vision loss to accelerate in teenage years

(Newser) - Montreal, Quebec, parents Edith Lemay and Sebastien Pelletier are taking a year to give their four children a trip of a lifetime—and for three of them, it will involve sights that they may never be able to see again. Mia, 12; Colin, 7; and Laurent, 5, were diagnosed years...

2 Women Win Chemistry Nobel for Tool With 'Enormous Power'

Emmanuelle Charpentier, Jennifer A. Doudna claim prize for their genome editing method

(Newser) - French scientist Emmanuelle Charpentier and American Jennifer A. Doudna have won the Nobel Prize in Chemistry for developing a method of genome editing likened to "molecular scissors" that offer the promise of one day curing genetic diseases. The recipients were announced Wednesday in Stockholm by the Royal Swedish Academy...

Sperm Donor Looked Stellar. Then, a 'Horrifying' Find
Sperm Donor Looked Stellar.
Then, a 'Horrifying' Find
IN CASE YOU MISSED IT
Oct 3, 2020 7:00 AM CDT

Sperm Donor Looked Stellar. Then, a 'Horrifying' Find

Families suing after 5 kids from Donor 3116 test positive for degenerative nerve disorder

(Newser) - He seemed like the perfect sperm donor: a well-educated cytogeneticist with a robust genetic makeup, with no signs of even minor health issues. But seven Canadian families say the man known as Donor 3116 wasn't quite what he seemed, and they're now suing the Ontario sperm bank they...

Cops: NY Woman Harassed Toddler With Rare Disorder

Krista Sewell is accused of stalking 2-year-old Anna, who has condition that makes her skin split

(Newser) - "Over the past year, I have fought a battle I never thought I would fight and I felt fear no mother should feel," says Jennie Riley. The battle the upstate New York mom refers to is that of a harassment campaign against her toddler, allegedly carried out by...

Sia Reveals She Has 'Demoralizing' Disease

Singer says she has Ehlers-Danlos syndrome, a genetic illness leaving her in 'chronic pain'

(Newser) - Sia Furler, the reclusive singer known for performing without even her face showing , has just given fans an unusually forthcoming look into some personal news, via what E! News calls a "heartfelt message" online. In a tweet Friday afternoon, the 43-year-old announced she's been living in "chronic...

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
Feb 18, 2018 1:33 PM CST

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...

Mom Fights for Son by Declaring She Would Have Aborted Him

Best chance of paying for toddler's pricey cystic fibrosis care is by filing wrongful-birth suit

(Newser) - Jen Gann was talking with someone earlier this year about her toddler Dudley's cystic fibrosis , a noncurable genetic disorder that afflicts sufferers with thick mucus in the lungs, causing lung infections and, for many, early death. In her piece for the Cut , Gann says that when the woman she...

Scientists 'Toy With Mother Nature' in 'Bold' Genetic First

For first time, scientists attempted gene editing inside a live human to try to cure genetic disease

(Newser) - Scientists for the first time have tried editing a gene inside the body in a bold attempt to permanently change a person's DNA to cure a disease. The experiment was done Monday in California on 44-year-old Brian Madeux, the AP reports. Through an IV, Madeux, who has a metabolic...

Genetic Disease Stole 3 of Utah Couple's Kids in 3 Days
Utah Parents Bury 3 Kids, Lost
to Same Disease, on Same Day
in case you missed it
Sep 30, 2017 5:11 PM CDT

Utah Parents Bury 3 Kids, Lost to Same Disease, on Same Day

Juvenile Batten disease is a cruel disorder, as the Chappells have learned

(Newser) - As far as diseases go, Juvenile Batten disease is a particularly cruel one: Vision issues and seizures typically emerge before a child is 10; blindness, dementia, and an inability to move can follow; death often comes within a decade. Crueler still, while the disorder is highly rare it's also...

Boy Goes Into Cardiac Arrest After Biting Into Hot Dog

Doctors say he has Brugada syndrome

(Newser) - When a 9-year-old boy took a big bite out of a hot dog in Turkey, he didn't choke on it—but he still almost died. That's because, as tests following his resuscitation from cardiac arrest revealed, he has a rare genetic condition known as Brugada syndrome, which impairs...

Her Body Unable to Process Protein Intake, Bodybuilder Dies
Protein 'Overdose' Contributed
to Woman's Untimely Death
in case you missed it
Aug 19, 2017 12:11 PM CDT

Protein 'Overdose' Contributed to Woman's Untimely Death

The bodybuilder was unaware her body couldn't process that much protein

(Newser) - An Australian woman who appeared to be in great shape suddenly died at age 25—and doctors say protein supplements contributed to her death. Meegan Hefford, a bodybuilder, had been complaining since early June about feeling "weird" and lethargic. On June 19, she was found unconscious in her apartment;...

Couple Quit Jobs, Became Scientists to Save Her Life

'You're healthy, and then you're falling off a cliff'

(Newser) - When Sonia Vallabh watched her mother die a horrible death in 2010, caught in limbo between sleep and wakefulness that led to severe dementia, she and her husband, Eric Minikel, wanted answers. The autopsy revealed a harrowing diagnosis: a prion disease called fatal familial insomnia, or FFI, reports the Boston ...

Rare Blood Disorder Now Runs in This Adopted Family

Tracy Antonelli found all 3 of her daughters in China

(Newser) - In 2012, Massachusetts resident Tracy Antonelli flew to China to adopt now-7-year-old Emmie. Antonelli had found her on an adoption advocacy site the year before and was shocked to learn the little girl was suffering from thalassemia, a rare genetic blood disorder that Antonelli herself was diagnosed with at the...

This Toddler Is Fighting 'Childhood Alzheimer's'

Marian, who is 18 months old, suffers from fatal Niemann Pick Type C disorder

(Newser) - One family has just gotten the kind of news every parent dreads, reports the Stir : Their 18-month-old daughter has an extremely rare, incurable, and fatal genetic disorder called Niemann Pick Type C, which is often referred to as childhood Alzheimer's. But there's a new drug currently in clinical...

'Genius' Sperm Donor, Who's Schizophrenic, Turns Self In

Christian Aggeles, who looked good on paper, has fathered more than 36 children worldwide

(Newser) - How often are sperm donors vetted, and how often do they get away with enhancing their positive traits? It's a question at the heart of ongoing lawsuits involving James Christian (Chris) Aggeles, who donated his sperm to Georgia-based Xytex Corp. years ago and fathered 36 children between 2000 and...

Severe Birth Defects Don't Mean Death Sentence
Severe Birth Defects Don't Mean Death Sentence
NEW STUDY
Jul 27, 2016 11:21 AM CDT

Severe Birth Defects Don't Mean Death Sentence

Canadian study suggests birth defects aren't as lethal as doctors previously advised

(Newser) - Parents of newborns with rare genetic conditions used to hear that severe birth defects were "incompatible with life." Support groups and social media showing the exceptions have changed the landscape—and so has mounting research suggesting not all such babies will die, the AP reports. The latest study...

Ray of Hope in Drug to Treat 'Childhood Alzheimer's'

Niemann-Pick Disease Type C prevents the body from processing cholesterol properly

(Newser) - Not long before her 10th birthday, Hayley Koujaian began to have seizures. They weren't the first sign that something was amiss—for three years she was put in a variety of learning environments and programs but her cognition seemed to be slowly declining instead of progressing. Finally, after a...

Family Sues After Boy Is Expelled Over His DNA
Family Sues After Boy Is Expelled Over His DNA
in case you missed it
Feb 6, 2016 5:00 PM CST

Family Sues After Boy Is Expelled Over His DNA

A trial could help establish exactly who can access one's genetic information

(Newser) - When Colman Chadam was born in 2000, he underwent extra medical tests after a congenital heart issue was discovered. Doctors learned that the infant carried genetic markers associated with cystic fibrosis, but he never went on to develop the disease. In fact, that test was the boy's only interaction...

Rare Disorder Requires Toddler to Eat Every Hour

Owen Torti was diagnosed with metabolic disorder LCHAD as a newborn

(Newser) - To all the new parents struggling to feed their newborn every two to three hours, imagine having to do it every hour—for years. Such is reality for the Torti family in Tennessee, whose son, Owen, now 23 months, was diagnosed with the rare metabolic disorder LCHAD (long-chain 3-hydroxyacyl-coenzyme A...

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