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Common genetic mutation that increases the risk of inheriting Hirschsprung disease

Gene hunters at Johns Hopkins have discovered a common genetic mutation that increases the risk of inheriting a particular birth defect not by the usual route of disrupting the gene's protein-making instructions, but by altering a regulatory region of the gene. Although the condition, called Hirschsprung disease, is rare, its complex genetics mimics that of more common diseases, such as diabetes and heart disease.

13 Apr 2005

Largest "gene deserts" yet discovered in the human genome sequence

A detailed analysis of chromosomes 2 and 4 has detected the largest "gene deserts" known in the human genome and uncovered more evidence that human chromosome 2 arose from the fusion of two ancestral ape chromosomes, researchers supported by the National Human Genome Research Institute (NHGRI).

6 Apr 2005

Scientists discover that microRNAs regulate thousands of human genes

For many years, DNA and proteins have been viewed as the real movers and shakers in genomic studies, with RNA seen as little more than a messenger that shuttles information between the two.

16 Jan 2005

New theory driving evolutionary changes

Researchers at UT Southwestern Medical Center at Dallas have used canine DNA to identify a genetic mutation mechanism they believe is responsible for rapid evolutionary changes in the physical appearance of many species.

14 Dec 2004

Sequencing of human genetic code promises to usher in a new era of genetic medicine

The ability of molecular biologists to sequence the human genetic code promises to usher in a new era of genetic medicine, but that doesn’t mean science can accurately read personal genetic codes.

16 Nov 2004

High school student makes significant contribution to breast cancer research

A high school student from Albany, New York, has made a significant contribution toward understanding how mutations to a gene called BRCA-1 contributes to hereditary breast cancer.

5 Jun 2004

Research uncovers critical pieces of human genome

Researchers have found precisely the same sequences in the genomes of humans, rats, and mice; sequences that are 95 to 99 percent identical to these can be found in the chicken and dog genomes, as well.

6 May 2004

Gene Responsible for The Most Common Form of Diabetes

International research teams studying two distinct populations have found variants in a gene that may predispose people to type 2 diabetes, the most common form of the disease. The researchers, who collaborated extensively in their work, report their findings in companion articles in the April issue of Diabetes.

22 Mar 2004