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Genetics and Birth Defects

“Master Regulator” Gene — Long Tied to Autism Disorders — Can Stimulate Other Genes Involved in Early Brain Development

-Finding caps three years of research led by biochemists at NYU Langone Medical Center ...

Genome Sequencing for Newborns: What Do New Parents Think?

A study published this week in Genetics in Medicine is the first to explore new parents' attitudes toward newborn genomic testing. The ...

Genetic Mutation Found to Cause Ovarian Failure

Tel Aviv University researchers discover unique genetic disorder responsible for ovarian insufficiency in women under 40 ... Full story

Genetic Mutation Found to Cause Ovarian Failure

Tel Aviv University researchers discover unique genetic disorder responsible for ovarian insufficiency in women under 40 ... Full story

RNA measurements may yield less insight about gene expression than assumed

Study of more than 4,000 genes suggests that RNA levels often have no effect on protein abundance, points to new gene regulation mechanism ... Full story

Machine learning reveals unexpected genetic roots of cancers, autism and other disorders

University of Toronto researchers from Engineering, Biology and Medicine teach computers to ‘read the human genome’ and rate likelihood of mutations causing disease, opening vast new possibilities for medicine ... Full story

Study finds genetic clue to menopause-like condition in young women

NIH-funded research may also contribute to understanding normal menopause ... Full story

MU Scientist and Inventor Contributes to the Study of Cell Genetics

James A. Birchler elected as a Fellow in the National Academy of Inventors for contributions to cytogenetics ... Full story

New research unlocks a mystery of albinism

A team led by Brown University biologists has discovered the way in which a specific genetic mutation appears to lead to the lack of melanin production underlying a form of albinism. ... Full story

‘Radiogenetics’ seeks to remotely control cells and genes

It’s the most basic of ways to find out what something does, whether it’s an unmarked circuit breaker or an unidentified gene — flip its switch and see what happens. New remote-control technology may offer biologists a powerful way to do this with cells and genes. A team at Rockefeller University and Rensselaer Polytechnic Institute is developing a system that would make it possible to remotely control biological targets in living animals — rapidly, without wires, implants or drugs. ... Full story

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