Genetics

Genetic mutation found in familial chronic diarrhea syndrome

When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic ...

Obstetrics & gynaecology

Blood test detects Down syndrome during pregnancy

(HealthDay) -- A second company reports that it has developed a prenatal blood test to detect Down syndrome, potentially providing yet another option for pregnant women who want to know whether their unborn child has the ...

Cardiology

Studies uncover keys in sudden cardiac death

Researchers in Rhode Island Hospital's Cardiovascular Research Center have published two new studies focusing on the causes of arrhythmia and sudden cardiac death (SCD) when a genetic disorder is present. The studies use ...

Genetics

Gene discovered for Weaver syndrome

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...

Genetics

Worms reveal new role for hormones in Bardet-Biedl syndrome

A new study, conducted by researchers at the University of California, San Francisco, has shed new light on a genetic disease known as Bardet-Biedl syndrome (BBS)—a condition in which patients show mental and developmental ...

Genetics

World's first bedside genetic test proves effective

Tailored anti-platelet therapy, made possible through a novel point-of-care genetic test, optimizes treatment for patients who carry a common genetic variant, researchers at the University of Ottawa Heart Institute (UOHI) ...

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