genetic defects

10 Stories

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... More »

'3-Parent Babies' Could Soon Be Legal in UK

Health secretary investigating risks, benefits

(Newser) - As the US continues to grapple with gay marriage, the British may be a step closer to legalizing three-parent babies. It's part of a scientific strategy to help eliminate debilitating genetic problems. The three-parent technique would involve using some healthy DNA from a third party who's not the... More »

Sperm Donor With Deadly Defect Fathers 24 Kids

Anonymity rules need to change, advocates say

(Newser) - A teenager inherited a "ticking time bomb in his chest" from a sperm donor father who failed to inform sperm banks that he had a rare and often fatal genetic heart defect as well as the inherited condition Marfan's syndrome. The man fathered at least 24 children through... More »

Down Syndrome on Decline as Moms Abort

Trend bucks statistics, raises fears that funding will dry up

(Newser) - With women waiting longer to have children, the number of Down syndrome cases in the US ought to be on the rise—advanced maternal age increases Down syndrome risk. But instead it fell 15% from 1989 to 2005, ABC News reports. The reason: prenatal screenings. Roughly 92% of women who... More »

Genetic Link Between Anorexia, Autism: Study

(Newser) - Anorexia might not be a social or psychological malady but rather an inherited genetic problem, Time reports. Furthermore, researchers see commonalities between that condition and autism. “Both autism-spectrum conditions and anorexia share a narrow focus of attention, a resistance to change and excellent attention to detail,” one doctor... More »

Birth Defects, IVF Linked, but How Linked?

Study finds increased genetic issues among test tube babies

(Newser) - Though the octuplets have pushed in vitro fertilization into the spotlight, there's still one question that's going largely unasked, reports the New York Times: "What is the chance that an IVF baby will have a birth defect?" Though a November study provided preliminary evidence—of 9,584 babies with... More »

New Prenatal Gene Test Proves Safer

Checks mom's blood for defects without miscarriage risk

(Newser) - Scientists have developed a prenatal test for genetic defects much safer than the ones currently in use, reports the San Jose Mercury News. Methods like amniocentesis can spot chromosomal disorders like Down Syndrome, but involve inserting a needle into the uterus, which carries close to a 1-in-200 risk of miscarriage.... More »

Study Yields More Clues About Autism

Scientists find genes needed for learning stuck in the off position

(Newser) - Scientists have found six new genes linked to autism, inching closer to a fuller understanding of the disorder and how to treat it, the AP reports. The genes in question are necessary for learning but are essentially stuck in the "off" position. The finding lends credence to the philosophy... More »

Stem Cells Are Beating Boy's Deadly Disease

Doctors believe treatment may cure skin disorder

(Newser) - A stem cell treatment has apparently cured a 2-year-old boy's rare genetic disease, the Los Angeles Times reports. Nate Liao suffered a disorder that made his skin so fragile, it had to be wrapped in bandages at all times. Now the fatal disease is retreating, and Nate is eating, dressing,... More »

US Settlers Spread Rare Cancer Gene

Scientists trace 1630s couple to NY and Utah families

(Newser) - Two American settlers braved cross-Atlantic travel in the 1630s with unusual baggage: a genetic mutation that increases the risk of colon cancer 17-fold, the Los Angeles Times reports. Researcher Deborah Neklason traced two cancer-ridden families, one in Utah and one in New York, back to colonists George Frye and his... More »

10 Stories