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Genetics

News, opinions and meeting coverage in genetics.

Eteplirsen Boosts Dystrophin, Function in DMD

Details from 12 patients in Study 201/202 reported at AAN

Older Kids With SMA Still Benefit From Nusinersen

But motor benefits more impressive in infants

SMA Gene Therapy Promising in Early Results

12 children with spinal muscular atrophy hit motor milestones in phase I trial of AVXS-101

Growing Data Linking Autism with Genetic Roots (NBC News)

New study identified genes predisposing some to condition

Former NCI Chief Niederhuber Shifts Gears

At age 78, still active in research and administration

Coffee, Genetics May Block Hepatitis in Heavy Drinkers

Gene variant also shows possible liver-protective effect

HIV Drug Fails in Small MS Trial

Casts doubt on novel theory of MS etiology

301 People Charged With $900 Million in False Medicare Billings

Largest sweep since government fraud team began in 2007

How to Avoid Misdiagnosis

How a patient makes you feel may affect your diagnostic acumen

10 Questions: Ilona J. Frieden, MD

'The structure of the system itself is the biggest barrier'

Here's Why You Can't Compare Healthcare to the Airline Industry

There are big differences between the two, says Suneel Dhand, MD

Opinion Makers: Jury Still Out on Gene-Guided DLBCL Therapy

Rationale for subtyping, but treatment data inconclusive

Medical Schools Boost Pain Management Education

In light of opioid epidemic, more schools focus on thoughtful prescribing

Dedicating a Career to Diversity and Disparities

NMA president Edith Mitchell, MD, laments racial gaps in medicine

'Failure to Communicate' Drives Misdiagnosis

Electronic medical records also need to be improved, says Mark Graber, MD

Teach Patients How to Communicate Symptoms Better

Patients should learn the eight characteristics of a symptom

'Sudden Adult Death' May Have Mitochondrial Origin

Some cases of unexplained sudden death can be traced to a common mitochondrial defect.

Duplication Error May Make Giants

Novel mutation may underlie some cases of gigantism.

Aphrodisiac Aids Genetic Type 2 Diabetes

About 4% of diabetes patients may benefit from yohimbine.

Patients鈥� Eye Color a Clue to Pain Tolerance

TAMPA -- Caucasian women with light-colored eyes -- blue or green -- appear to tolerate pain better than Causcasian women with brown or hazel eyes, researchers reported here.

Gene Therapy Works in SCID With No Risk of Leukemia

NEW ORLEANS -- Genetic therapy appeared to restore the immune system of patients with X-linked severe combined immunodeficiency (SCID), but without leading to leukemia as a side effect, researchers reported here.

Stem Cells Help ALD Kids Live Longer

AUSTIN, Texas -- Survival in children with cerebral adrenocerebral adrenoleukodystrophy (ALD) appeared to be improved with allogeneic hematopoietic cell transplants compared with untreated patients, a researcher said here.

Morning Break: Addictive Oreos and Sperm-Slaying Bacon

Health news and commentary from around the Web, gathered by the 番茄社区 staff.

Children OK with Long-Term Exjade

ATLANTA -- Children with thalassemia and treated with the anti-iron overload drug deferasirox (Exjade) appear to tolerate the treatment for at least as long as 3 years while serum iron levels fell, researchers said here.

Genetic Obesity Risk Heightened by Sugary Drinks

SAN ANTONIO -- The relationship between genetics, body mass index, and obesity risk appears to be magnified in adults who drink the most sugar-sweetened beverages, researchers found.

Shire Quits on Fabry Drug

Shire PLC has withdrawn its U.S. application to market an enzyme replacement therapy for Fabry disease, citing an expected FDA demand for controlled clinical trials.

Food Allergy Common in Joint Disorder

ORLANDO -- Children with the inherited disorder known as Ehlers Danlos type 3 syndrome may be at high risk for severe food allergy, British researchers reported here.

Docs Contradict NCAA on Sickle Cell Trait Tests

The American Society of Hematology is challenging the major college sports organization over its policy on sickle cell trait testing for athletes.

Nurture Tops Nature for Autism Risk

Autism only moderately follows genetic lines, with environmental influences weighing heavily in development of the disorder, researchers found in a twin study.

EMA Calls Halt to Reduced Dosing of Fabry Drug

Europe's equivalent of the FDA has advised that patients with Fabry disease receive the full label-recommended dosage of Genzyme's agalsidase-beta (Fabrazyme) despite the ongoing shortage of the drug, which is one of two enzyme replacement products available to treat the genetic disease.

The Top 10 Medical Advances of the Decade

From genome to hormones, doctors pick the top medical advances of the decade.