Nature Genetics
For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder.
In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), an international research team has identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.
The loss of a gene through deletion of genetic material on chromosome 15 is associated with significant abnormalities in learning and behavior, said a consortium of researchers led by Baylor College o
For thousands of years an undesirable and persistent companion has been travelling with man wherever he goes.
An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia.
A rare form of testicular tumour has provided scientists with new insights into how genetic changes (mutations) arise in our children. The research, funded by the Wellcome Trust and the Danish Cancer Society, could explain why certain diseases are more common in the children of older fathers.
Researchers identified a new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that appears to work in concert with another mutation to give rise to cancer. This latest anomaly is particularly common in children with Down syndrome.
PHILADELPHIA - A study published in the October issue of Nature Genetics demonstrates that loss of the tumor-suppressor protein p53, coupled with elimination of the DNA-maintenance protein ATR, severely disrupts tissue maintenance in mice. As a result, tissues deteriorate rapidly, which is generally fatal in these animals.
A gene with a significant effect on regulating hemoglobin in the body has been identified as part of a genome-wide association study, which looked at the link between genes and hemoglobin level in 16,000 people. The research was carried out by scientists from Imperial College London and published in Nature Genetics today.
DURHAM, N.C. -- Duke University Medical Center and National Cancer Institute scientists have discovered that a novel genetic alteration -- a second copy of an entire gene -- is a cause of familial chordoma, an uncommon form of cancer arising in bones and frequently affecting the nervous system.
Scientists have identified a genetic variation in people with type 2 diabetes that affects how the body's muscle cells respond to the hormone insulin, in a new study published today in Nature Genetics. The researchers, from Imperial College London and other international institutions, say the findings highlight a new target for scientists developing treatments for diabetes.
St. Louis, Sept. 6, 2009 -- An international team of scientists has identified two more genetic risk factors for Alzheimer's disease. The findings are reported in the online edition of the journal Nature Genetics.
A new genetic marker associated with ovarian cancer risk was recently discovered by an international research group, led by scientists from the Cancer Research Genetic Epidemiology Unit in the United Kingdom. Drs.
Drawing on the power of DNA sequencing, National Institutes of Health researchers have identified a new group of genetic mutations involved in the deadliest form of skin cancer, melanoma.
In the chilling science fiction movie Gattaca, Ethan Hawke stars as a man with "inferior genes" who assumes another's genetic identity to escape a dead-end future. The 1997 film illustrates the very real fear swirling around today's genome research -- fear that private genetic information could be used negatively against us.
