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Investigators discover two new genes associated with severe early-onset disorders of heart rhythm

A team led by Vanderbilt University investigators has discovered two new genes - both coding for the signaling protein calmodulin - associated with severe early-onset disorders of heart rhythm.

7 Feb 2013

Hope against dangerous form of acute lymphoblastic leukemia

After an intensive three-year hunt through the genome, medical researchers have pinpointed mutations that leads to drug resistance and relapse in the most common type of childhood cancer-the first time anyone has linked the disease's reemergence to specific genetic anomalies.

4 Feb 2013

Researchers identify cancer-associated mutations

Two new mutations that collectively occur in 71 percent of malignant melanoma tumors have been discovered in what scientists call the "dark matter" of the cancer genome, where cancer-related mutations haven't been previously found.

25 Jan 2013

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of brain tumors known as meningiomas, a finding that could lead to the first effective drug treatments for the tumors, report scientists from Dana-Farber Cancer Institute and the Broad Institute.

23 Jan 2013

Researchers identify clear role for tags in mediating genetic risk for rheumatoid arthritis

In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA), an immune disorder that afflicts an estimated 1.5 million American adults.

21 Jan 2013

New insulin associated genetic variants discovered

Exome array genotyping, which allows focus on the protein coding regions of the genome, has enabled researchers to identify three new genes containing low-frequency variants that influence insulin levels.

7 Jan 2013

Researchers sequence entire gene to identify mutations that cause hyperinsulinism

Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the pancreas.

28 Dec 2012

New genetic study defines biology behind brain developmental disorder in children

This study describes how a combination of sequencing and mouse models were used to identify the gene responsible for a brain developmental disorder seen in four patients.

1 Dec 2012

UBE3B gene linked to brain development disorder in children

Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this gene, UBE3B, has been linked to a disease.

30 Nov 2012

Researchers discover rare genetic mutation that increases risk of Alzheimer's disease

Researchers from Nottingham have played their part in the discovery of a rare genetic mutation that increases the risk of Alzheimer's disease, in a study with major implications for understanding the causes of the disease.

15 Nov 2012

Researchers sequence the DNA of 6,700 exomes of cystic fibrosis patients

A multi-institutional team of researchers has sequenced the DNA of 6,700 exomes, the portion of the genome that contains protein-coding genes, as part of the National Heart, Lung and Blood Institute (NHLBI)-funded Exome Sequencing Project, one of the largest medical sequencing studies ever undertaken.

7 Nov 2012

CSHL scientists discover new way to specifically target and kill cancer cells

Cancer cells grow fast. That's an essential characteristic of what makes them cancer cells. They've crashed through all the cell-cycle checkpoints and are continuously growing and dividing, far outstripping our normal cells. To do this they need to speed up their metabolism.

1 Nov 2012

Researchers use baker's yeast to identify new therapies for Lou Gehrig's disease

Amyotrophic lateral sclerosis, also called Lou Gehrig's disease, is a devastatingly cruel neurodegenerative disorder that robs sufferers of the ability to move, speak and, finally, breathe.

29 Oct 2012

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

BGI Tech achieves whole exome sequencing analysis of total degraded DNA from FFPE samples

BGI Tech Solutions Co., Ltd., a subsidiary company of BGI, announced today that they have achieved whole exome sequencing analysis of total degraded DNA as low as 200 ng from formalin fixed paraffin embedded (FFPE) samples.

19 Sep 2012

Researchers discover small DNA sequence that drives GATA2 protein

The protein GATA2 is known as a "master regulator" of blood cell development. When a mutation occurs in the gene that makes GATA2, serious blood diseases such as acute myeloid leukemia can result.

11 Sep 2012

Sifting through the junk with ENCODE

The first large-scale results from the ENCylopedia Of DNA Elements Consortium have shed light on possible functions of large areas of the genome previously thought of as “junk DNA.”

10 Sep 2012

Researchers identify three genetic regions associated with primary biliary cirrhosis

Researchers have newly identified three genetic regions associated with primary biliary cirrhosis (PBC), the most common autoimmune liver disease, increasing the number of known regions associated with the disorder to 25.

10 Sep 2012

Scientists complete comprehensive map of genetic mutations linked to small cell lung cancers

Scientists have completed a comprehensive map of genetic mutations linked to an aggressive and lethal type of lung cancer.

6 Sep 2012

CSHL publishes genome-wide analysis of transcripts produced within human cells

Most people understand genes to be specific segments of DNA that determine traits or diseases that are inherited. Textbooks suggest that genes are copied into RNA molecules, which are then used as templates for making protein - the highly diverse set of molecules that act as building blocks and engines of our cells. The truth, it now appears, is not so simple.