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Single test developed that detects all known strains of H5N1

The close collaboration between scientists from the Experimental Therapeutics Centre (ETC) under the Agency for Science and Technology Research (A*STAR) and clinicians from Tan Tock Seng Hospital (TTSH) has enabled the successful development of the most comprehensive and rapid H5N1 bird flu test kit available to date.

29 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

UCSD scientists receive new CIRM grants to conduct stem cell-based research

Five scientists from the University of California, San Diego and its School of Medicine have been awarded almost $12 million in new grants from the California Institute for Regenerative Medicine (CIRM) to conduct stem cell-based research into regenerating spinal cord injuries, repairing gene mutations that cause amyotrophic lateral sclerosis and finding new drugs to treat heart failure and Alzheimer's disease.

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

European CHMP issues positive opinion to Vertex's KALYDECO for treatment of CF

Vertex Pharmaceuticals Incorporated announced today that the European Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion by consensus recommending the approval of KALYDECO (ivacaftor) for people with cystic fibrosis (CF) ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

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 two gene mutations that cause neuromuscular disorder

Research into how carbohydrates are converted into energy has led to a surprising discovery with implications for the treatment of a perplexing and potentially fatal neuromuscular disorder and possibly even cancer and heart disease.

25 May 2012

Scientists may be step closer to developing new therapy for AML

Scientists at Virginia Commonwealth University Massey Cancer Center may be one step closer to developing a new therapy for acute myeloid leukemia (AML) after discovering that the targeted agents obatoclax and sorafenib kill leukemia cells much more effectively when combined than when the drugs are administered individually.

23 May 2012

Study shows how chromosomal mutation likely contributes to early development of prostate cancer

Up to half of all prostate cancer cells have a chromosomal rearrangement that results in a new "fusion" gene and formation of its unique protein -- but no one has known how that alteration promotes cancer growth. Now, Weill Cornell Medical College researchers have found that in these cancer cells, the 3-D architecture of DNA, wrapped up in a little ball known as a chromatin, is warped in such a way that a switch has been thrown on thousands of genes, turning them on or off to promote abnormal, unchecked growth. Researchers also found that new chromosomal translocations form, further destabilizing the genome.

23 May 2012

Researchers to initiate Crenezumab clinical trial to treat Alzheimer's

After an announcement by federal officials approving clinical trials for the drug Crenezumab, researchers searching for a way to treat Alzheimer's Disease are gearing up for a rare study that will allow them to test a therapy for a genetically predestined disease -- before its onset.

23 May 2012

Researchers generate neuronal cells from patients with Fragile X syndrome

Researchers at the Hebrew University of Jerusalem have achieved, for the first time, the generation of neuronal cells from stem cells of Fragile X patients. The discovery paves the way for research that will examine restoration of normal gene expression in Fragile X patients.

23 May 2012

New clinical trial to evaluate HSP90 inhibitor plus hormonal therapy for breast cancer

Pushed to the brink of survival, the hyper-driven cells of a cancerous tumor tap into an ancient system that has helped organisms cope with internal stresses and environmental challenges since life began. As an integral part of this system, heat shock protein 90 (HSP90) has been shown to help malignant cells accommodate the genetic changes and profound disturbances in normal biology that occur in cancers.

23 May 2012

Researcher restructures innovative virus-tracking software

A biomedical informatics researcher who tracks dangerous viruses as they spread around the globe has restructured his innovative tracking software to promote even wider use of the program around the world.

23 May 2012

New therapeutic options for management of melanoma brain metastases

In a recent article published in MELANOMA RESEARCH and a subsequent commentary in British medical journal THE LANCET, researchers at Moffitt Cancer Center discussed new therapeutic options for the management of melanoma brain metastases. Patients with advanced melanoma are at high risk for developing brain metastases. Once brain metastases are present, these patients tend to have poor outcomes.

21 May 2012

Study uncovers distinct subtype of prostate cancer

A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical College, the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute.

21 May 2012

Study uncovers mechanism by which Notch pathway could contribute to RA

A new study led by researchers at Hospital for Special Surgery identifies the mechanism by which a cell signaling pathway contributes to the development of rheumatoid arthritis (RA). In addition, the study provides evidence that drugs under development for diseases such as cancer could potentially be used to treat RA.

21 May 2012

Large survey of genetic variation offers insights into human diseases

A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases.

19 May 2012