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Genetics and Birth Defects

New explanation offered for symptoms of fragile X syndrome

In wake of clinical trial failure, new treatment targets identified ...

Smoking leaves historical “footprint” in DNA

•Smoking has a very broad, long-lasting impact on the human genome. •Study provides new knowledge about genes affected by smoking that could lead ...

Research note: Two mood drugs combat virus implicated in birth defects

By Bill Hathaway Cells (green) infected by cytomegalovirus. Two mood-stabilizing drugs provide protection against a potentially dangerous virus implicated in birth defects as well as disease in ... Full story

Genes Essential to Life Found in Mouse Mutants are Related to Many Human Disease Genes

Penn team and international collaborators' identification of essential genes provides a window into human disease ... Full story

Why some developing hearts can’t tell left from right

By Bill Hathaway When a developing heart can’t tell left from right, it can take a team of scientists from a host of disciplines to explain ... Full story

Sertraline, brand named Zoloft, improves functioning in young children with fragile X

(SACRAMENTO, Calif.) — Treatment with sertraline may provide nominal but important improvements in cognition and social participation in very young children with fragile X syndrome, the most common genetic cause of intellectual disability and the leading single-gene cause of autism, a study by researchers with the UC Davis MIND Institute has found. ... Full story

New Discovery in Genetic Research Could Lead to Treatments for Mitochondrial Diseases

COLUMBIA, Mo. – A new study published in the Proceedings of the National Academy of Sciences (PNAS) from the University of Missouri has succeeded in creating embryos with “heteroplasmy,” or the presence of both maternal and paternal mitochondrial DNA. This new innovation will allow scientists to study treatments for mitochondrial diseases in humans as well as the significance of mitochondrial inheritance for livestock. ... Full story

Automating genetic analysis helps keep up with rapid discovery of new diseases

Stanford researchers are devising ways to have computers help perform some of the intensive genetic analysis now performed manually when scientists study a patient's genome to diagnose a disease. ... Full story

Scientists identify Down's Syndrome gene

GENETICISTS have identified an enzyme which regulates the production of sperm and egg cells in human reproduction. ... Full story

Neurodevelopmental Model of Williams Syndrome Offers Insight into Human Social Brain

Rare genetic condition produces individuals with extremely sociable personalities but research may also shed light on biology and behavior of persons with autism and other social disorders ... Full story

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