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Genetics and Birth Defects

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 ...

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 ...

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

Will Unanticipated Genetic Mutations Lead to Subsequent Disease?

A study published Nov. 9 in the journal Science Translational Medicine is the first to show that mutations in certain cancer and cardiovascular genes put individuals ... Full story

Do Genes Decide When We Have Children?

When we have our first child and how many children we ultimately have depend on many factors. A study, published in the journal Nature Genetics, has identified specific areas of the DNA sequence that also play a role. More than 250 sociologists, biologists and geneticists from institutions worldwide – including Helmholtz Zentrum München – were involved in the research. ... Full story

Gatekeeping Proteins to Aberrant RNA: You Shall Not Pass

Berkeley Lab scientists shed light on how cells keep aberrant RNA contained in nucleus ... Full story

New iPS-cell model system helps develop treatments for spinocerebellar ataxia

Researchers at the RIKEN Center for Developmental Biology have succeeded in creating a new model system that can be used to develop drug therapies for genetic disorders like spinocerebellar ataxia type 6 (SCA6). Published in Cell Reports, the study shows how stem cells from patients with SCA6 can be transformed into mature Purkinje cells — the same type of neuron that starts dying when people develop SCA6 later in life. With this setup, the team discovered that mature Purkinje cells with the SCA6 mutation became vulnerable when deprived of thyroid hormone. ... Full story

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