genetic disorders

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Rare Disease Could Turn Boy Into 'Mannequin'

Jarvis Budd is one of 13 Australians to suffer from the rare disease

(Newser) - Three-year-old Jarvis Budd is one of just 13 people in Australia to suffer from a rare disease called fibrodysplasia ossificans progressiva, or "human mannequin disease." This means that with every minor fall or injury, he runs the risk of his joints seizing and triggering "abnormal bone growth,...

Why This Family Is 150 Days Into Quarantine
 Why This Family Is 
 150 Days Into Quarantine 
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Why This Family Is 150 Days Into Quarantine

Daughter has a rare disorder exacerbated by even minor illnesses

(Newser) - Talk these days of quarantines revolves around Ebola, but one South Carolina family has voluntarily blocked themselves off from the outside world—not to protect others, but to protect their 4-year-old daughter, Eliza, who suffers from the most severe form of a rare genetic disorder called Sanfilippo syndrome . The metabolic...

Man With Disorder Sues Shaq for Mocking His Selfie

Jahmel Binion: NBA star made fun of me on social media

(Newser) - A Michigan man with a rare genetic disorder is seeking more than $25,000 in damages from Shaquille O'Neal, NBA player Trey Burke, and rapper Waka Flocka for making fun of his pic on social media, reports the Detroit Free Press . Jahmel Binion has ectodermal dysplasia, a condition that...

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...

Woman With Rare Condition Is First in US to Give Birth

Stephanie Turner, 21, has Harlequin Ichthyosis

(Newser) - Stephanie Turner was not expected to live past infancy. But she did, and at 21, she's the second oldest US citizen with Harlequin Ichthyosis, a rare genetic condition that left her without a top layer of skin, any hair, or the ability to sweat. Three months ago, the Arkansas...

&#39;Bucket List&#39; Baby Dies
 'Bucket List' Baby Dies 

'Bucket List' Baby Dies

5-month old Avery Canahuati had genetic disease

(Newser) - A baby whose "bucket list" blog was read by millions of people around the world has died at the age of just 5 months. Avery Canahuati's parents created the blog after learning their daughter had the incurable genetic disease spinal muscular atrophy and was not expected to survive...

Santorum Daughter Hospitalized

Candidate cancels campaign events to be with disabled daughter Isabella

(Newser) - Rick Santorum's 3-year-old daughter, Isabella, who suffers from the genetic condition Trisomy 18 , was hospitalized yesterday, causing Santorum to cancel his campaign events this morning to travel to Philadelphia and be by her side, reports the Philadelphia Inquirer . Half of babies with Trisomy 18, a chromosomal defect, are stillborn,...

New DNA Test Reveals Children Born of Incest

...and it does so without needing mom or dad's DNA

(Newser) - Suspect your parents may have been related? Well, now you can find out behind their back, thanks to new advances in DNA testing, USA Today reports. In a study published yesterday, doctors revealed that they can now determine if a child is born of incest without testing the DNA of...

Glass Half-Full, or Half-Empty? Ask Your Genes

New link made between genes, risk of depression

(Newser) - Bad—or, potentially, good—news for pessimists: Some people's negative outlook on life appears to be caused by a genetic condition, according to a new study. Researchers found that people with low levels of the brain chemical NPY are likelier to be pessimistic, to deal poorly with stress, and to...

New Idea for Healthy Babies: Three Parents

It could be possible in 3 years

(Newser) - UK researchers have grown embryos that combine the DNA of one man and two women, a development that could help babies avoid genetic defects. In broad strokes, it works like this: Parents at risk of passing on a genetic disorder fertilize an egg, and the healthy material is extracted and...

Untested Stem-Cell Treatments Lure Americans Abroad

FDA says they're untested, unsafe

(Newser) - Dozens, perhaps hundreds, of Americans have defied federal warnings against seeking untested—and often expensive—stem-cell therapy abroad, CNN reports. Though they lack scientific backing, such treatments for terminal diseases are popular in China, where the parents of one 8-year-old seek to treat her spinal muscular atrophy. “We are...

Who's Your Daddy? DNA Tests May Shock You

DNA tests can lead to unpleasant discoveries

(Newser) - A simple DNA test is enough to rend a family apart, the Los Angeles Times reports. As more people take genetic tests to uncover medical data or trace family roots, more are discovering that their biological father is someone else. It's an old issue in medicine—blood types, after all,...

Many Duck DNA Tests Over Fears of Bias

Bosses and insurers will dis them over disorders, some say

(Newser) - Some Americans are ducking genetic tests for fear that bosses and insurers may single out those with disorders, the New York Times reports. Others, tested privately, hide problems from doctors to dodge financial pain—leading, in some cases, to health problems that could have been avoided. But insurance reps and...

New Tech Identifies Rare DNA Disorders

Services link families whose kids were once labeled autistic

(Newser) - New procedures that scan all 46 human chromosomes are helping doctors classify disorders once lumped together as "developmentally delayed" or "autistic"—and helping parents connect to families whose children also have uncommon conditions. The New York Times looks at the lives of parents isolated by their experience...

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