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Genetics and Birth Defects

Java gene study links caffeine metabolism to coffee consumption behavior

Genetic variants might also impact nicotine and other drug metabolism ...

Smoking leaves historical ‘footprint’ in DNA

Cigarette smoke not only directly harms the pulmonary function, it also damages the DNA. Until now, researchers have primarily concentrated on changes ...

Global study leads to discovery of genes relevant for development in mice and humans

A third of all genes in the mammalian genome are important for survival, and many of the essential genes found here also play a key role in human diseases. Working with colleagues from the International Mouse Phenotyping Consortium (IMPC) and INFRAFRONTIER, scientists from the Helmholtz Zentrum München (HMGU) describe the large-scale discovery of those genes and how it will impact understanding of mammalian development and human disease. The results were recently published in the Nature magazine. ... Full story

New Safety Data Support Human Testing of Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis I

New Rochelle, NY, —Extensive biosafety studies of hematopoietic stem cell (HSC) gene therapy, intended to replace a protein that patients with the inherited disease mucopolysaccaridosis ... Full story

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Very rare genetic mutations that disrupt the function of genes are common in patients with schizophrenia and are also associated with fewer months of formal education in healthy individuals, report two independent papers published online this week in Nature Neuroscience. However, since many cognitive, personality and psychological factors also influence educational attainment, it is unknown which of these are affected by this collection of mutations ... Full story

Study implicates glial cells in fragile X syndrome

The genetic defect behind a common cause of mental retardation affects not only neurons but also the more numerous glial cells in the brain ... Full story

Reading the rules of gene regulation with CRISPR

We have barely begun to crack open the rulebook for the vast noncoding regions of the genome. Two new methods, building on CRISPR advances, may help reveal some of the pages. ... Full story

Birth weight and adult disease are genetically linked, study finds

Genes can help explain why some babies have a low birth weight, a major international study jointly led by The University of Queensland has found. ... Full story

How our cells use mother’s and father’s genes

Researchers at Karolinska Institutet and Ludwig Institute for Cancer Research have characterized how and to what degree our cells utilize the gene copies inherited from our mother and father differently. At a basic level this helps to explain why identical twins can appear rather different, even though they share identical genetic makeup. With this knowledge we will better understand the variation in outcomes of genetic disorders. ... Full story

New explanation offered for symptoms of fragile X syndrome

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

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