Genetics

Trial aims to advance prenatal diagnosis of genetic defects

Reproductive genetics researchers at Columbia University Medical Center (CUMC) are leading a multicenter prospective clinical study investigating the effects of chromosomal abnormalities (duplicative or missing material) ...

Genetics

Finding a genetic cause for severe childhood epilepsies

(Medical Xpress)—A large scientific study has discovered new genes causing severe seizure disorders that begin in babies and early childhood. The finding will lead to new tests to diagnose these conditions and promises ...

Other

ACMG releases statement on noninvasive prenatal screening

The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section ...

Oncology & Cancer

USPSTF: BRCA testing for women with family history

(HealthDay)—The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRCA mutations.

Genetics

Australia-led study in epilepsy breakthrough

An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.

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