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Genetics and Birth Defects

Customers who receive genetic health data not alarmed by results, find information useful

ANN ARBOR—As consumers have been able to learn more about their genetic makeup in recent years through personal genomic testing, one big ...

New mathematical model provides "Disease Causation Index"

MedUni Vienna researchers are able to establish whether a complex disease has a genetic or environmental cause ...

Sex cells evolved to pass on quality mitochondria

Mammals immortalise their genes through eggs and sperm to ensure future generations inherit good quality mitochondria to power the body’s cells, according to new UCL ... Full story

Link found between epilepsy drugs and birth defects

A joint study conducted by researchers from the universities of Liverpool and Manchester has found a link between birth defects and certain types of epilepsy medication. ... Full story

First structural map of the cystic fibrosis protein sheds light on how mutations cause disease

Rockefeller scientists have created the first three-dimensional map of the protein responsible for cystic fibrosis, an inherited disease for which there is no cure. This achievement, described December 1 in Cell, offers the kinds of insights essential to better understanding and treating this often-fatal disease, which clogs the lungs with sticky mucus, leading to breathing problems or respiratory infections. ... Full story

VIB scientists develop diagnostic tool for Familial Mediterranean Fever

Researchers at VIB and Ghent University have developed a tool to diagnose Familial Mediterranean Fever (FMF). Particularly common among Mediterranean populations, this genetic disease is characterized by inflammation, fever and severe pain. Because of its complex diagnosis, patients often remain untreated for many years, which can eventually lead to kidney failure. In collaboration with Ghent University Hospital and Antwerp University Hospital, VIB and Ghent University are now planning clinical trials to further validate immunodiagnosis of FMF. The study is published in the leading scientific journal PNAS. ... Full story

Researchers create synthetic cells to isolate genetic circuits

Encapsulating molecular components in artificial membranes offers more flexibility in designing circuits. ... Full story

Inherited taste perceptions may explain why some people eat too much salt

•People with enhanced bitter taste perception are almost twice as likely to consume too much sodium as people with less acute tasting ability. •Those with gene variations that allow them to taste bitter more intensely may also taste salt more intensely and enjoy it more, leading to increased sodium intake, researchers said. ... Full story

Researchers launch first clinical trial for Wolfram syndrome

Many people with rare genetic disease die prematurely ... Full story

New technique aids search for genetic roots of disease

Researchers can create sets of mutated DNA sequences quickly, cheaply ... Full story

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