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Foundation Medicine introduces first pan-cancer genomic profile

Foundation Medicine announced today the commercial launch of FoundationOne, the first pan-cancer, fully informative genomic profile designed to help oncologists expand their patients' treatment options.

31 May 2012

Genetics can predict success of smoking cessation and need for medications

Genetics can help determine whether a person is likely to quit smoking on his or her own or need medication to improve the chances of success, according to research published in today's American Journal of Psychiatry. Researchers say the study moves health care providers a step closer to one day providing more individualized treatment plans to help patients quit smoking.

31 May 2012

Omixon Target, a next generation sequencing analysis software for targeted sequencing, released by Omixon

Today Omixon – a genomic software company - announced the commercial release of Omixon Target, a next generation sequencing analysis software for targeted sequencing. Omixon built its new software Target with the vision of helping diagnostic labs to adopt next generation sequencing to replace and complement traditional capillary Sanger sequencing.

30 May 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

Nature Genetics publishes results from whole genome-wide study of recurrent HBV integration in HCC

The Asian Cancer Research Group (ACRG)—an independent, not-for-profit company established by Eli Lilly and Company, Merck (known as MSD outside the United States and Canada) and Pfizer Inc.—in collaboration with BGI—the world's largest genomics organization—today announced the publication of results from a whole genome-wide study of recurrent hepatitis B virus (HBV) integration in hepatocellular carcinoma (HCC) in Nature Genetics.

30 May 2012

Scientists identify 20 distinct gene mutations in patients with FGD

A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.

30 May 2012

Glia seem to play two opposing roles in protecting nerve cells from damage

A protein produced by the central nervous system's support cells seems to play two opposing roles in protecting nerve cells from damage, an animal study by Johns Hopkins researchers suggests: Decreasing its activity seems to trigger support cells to gear up their protective powers, but increasing its activity appears to be key to actually use those powers to defend cells from harm.

30 May 2012

Neural protein plays two opposing roles

A protein produced by the central nervous system’s support cells seems to play two opposing roles in protecting nerve cells from damage, an animal study by Johns Hopkins researchers suggests: Decreasing its activity seems to trigger support cells to gear up their protective powers, but increasing its activity appears to be key to actually use those powers to defend cells from harm.

29 May 2012

Short hairpin RNAi gene silencing technology receives CSIRO's foundational patents

Australia's leading science agency, the Commonwealth Scientific and Industrial Research Organisation (CSIRO), has been granted foundational patents in the US and Europe for short hairpin RNAi (shRNA) gene silencing technology.

29 May 2012

Researchers develop tentative model for diagnosis of colon cancer

Researchers from the Universidad Politécnica de Madrid's Facultad de Informática, the Universidad del País Vasco, the Gaiker Technology Centre (Biscay) and the Hospital de Cruces in Barakaldo, have developed a tentative model for the diagnosis of colon cancer based on a biomarker panel.

28 May 2012

CDKN1C gene mutation contributes to IMAGe syndrome

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics.

28 May 2012

UCLA geneticists identify mutation responsible for IMAGe syndrome

UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.

28 May 2012

Scientists show how hemizygous deletion can contribute to cancer

Chromosomal deletions in DNA often involve just one of two gene copies inherited from either parent. But scientists haven't known how a deletion in one gene from one parent, called a "hemizygous" deletion, can contribute to cancer.

28 May 2012

X-chromosome involved in development of bowel cancer

Scientists have shown for the first time that one of the sex chromosomes is involved in the development of a cancer that can afflict both genders, according to a Cancer Research UK-funded study in Nature Genetics.

28 May 2012

Special surface allows adult-derived stem cells to thrive and transform into multiple cell types

University of Michigan researchers have proven that a special surface, free of biological contaminants, allows adult-derived stem cells to thrive and transform into multiple cell types. Their success brings stem cell therapies another step closer.

25 May 2012

Immune system involved in removing Alzheimer's-causing substance in the brain

Recent work in mice suggested that the immune system is involved in removing beta-amyloid, the main Alzheimer's-causing substance in the brain. Researchers have now shown for the first time that this may apply in humans.

25 May 2012

Gene therapy can effectively treat ADA-deficient severe combined immunodeficiency

Severe combined immunodeficiency is defect in the immune system that results in a loss of the adaptive immune cells known as B cells and T cells. Mutations in several different genes can lead to the development of severe combined immunodeficiency, including mutation of the adenosine deaminase (ADA) gene. Traditional treatment options, such as enzyme replacement therapy, are of limited efficacy, but bone marrow transplant from a compatible donor leads to a better response.

25 May 2012

RUB researchers gain new insights into mechanisms of cardiovascular disease

Malformed desmin proteins aggregate with intact proteins of the same kind, thereby triggering skeletal and cardiac muscle diseases, the desminopathies. This was discovered by researchers from the RUB Heart and Diabetes Center NRW in Bad Oeynhausen led by PD Dr. Hendrik Milting in an interdisciplinary research project with colleagues from the universities in Karlsruhe, Würzburg and Bielefeld. They report in the Journal of Biological Chemistry.

25 May 2012

Researchers identify single gene that controls aging, inflammation and cancer

Researchers at NYU School of Medicine have, for the first time, identified a single gene that simultaneously controls inflammation, accelerated aging and cancer.

25 May 2012

New method can screen for bacterial genes that are expressed during meningitis

Bacterial meningitis is an infection of the meninges, the protective membrane that covers the spinal cord and brain. Children, elderly patients and immunocompromised patients are at a higher risk for the development of severe bacterial meningitis. Recently, researchers at the University of Adelaide in Australia sought to identify new vaccine targets in Streptococcus pneumoniae, which is the most common cause of bacterial meningitis in the world.

25 May 2012