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Researchers discover how SHP-2 genetic defect may result in heart malformation

UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are unable to form a fully functioning heart.

7 Feb 2012

Researchers describe genetic basis of endometriosis

Researchers at Yale School of Medicine have, for the first time, described the genetic basis of endometriosis, a condition affecting millions of women that is marked by chronic pelvic pain and infertility. The researchers' discovery of a new gene mutation provides hope for new screening methods.

6 Feb 2012

Asian bird flu update for Ferbruary 2012

Health workers in Nepal are to cull thousands of chickens following the discovery of the H5N1 strain of bird flu in the southeastern part of the Himalayan country.

6 Feb 2012

Scientists search gene alterations in three-parent kids

Researchers from Australia want to find out if using the DNA of three parents will prevent children inheriting life-threatening diseases. They add that if the technique proves successful in preventing the transfer of mitochondrial DNA mutations from mothers to babies, then laws on the use of embryos will need to be changed to allow the procedure.

6 Feb 2012

ABC2, Exosome collaborate to explore RNA biofluid-based diagnostic technology in brain cancer

Accelerate Brain Cancer Cure and Exosome Diagnostics are collaborating with leading academic medical centers to accelerate clinical validation of Exosome's blood and cerebrospinal fluid-based molecular diagnostics technology in brain cancer.

6 Feb 2012

Pyromaker can more accurately identify complex genetic mutations

DNA sequencing to detect genetic mutations can aid in the diagnosis and selection of treatment for cancer. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University School of Medicine have developed a free software program, Pyromaker, that can more accurately identify such complex genetic mutations.

6 Feb 2012

Whole exome sequencing provides clues about rare mutations in aneurysms

An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, predisposing them to brain bleeds, according to preliminary late-breaking research presented at the American Stroke Association's International Stroke Conference 2012.

4 Feb 2012

Whole-exome sequencing discovers cause of glycosylation disorders

Sequencing a patient's entire genome to discover the source of his or her disease is not routine - yet. But geneticists are getting close. A case report, published this week in the American Journal of Human Genetics, shows how researchers can combine a simple blood test with an "executive summary" scan of the genome to diagnose a type of severe metabolic disease.

4 Feb 2012

Molecular subtypes of lung cancer manifest as different diseases

Different kinds of lung cancer behave in different ways, suggesting they are fundamentally different diseases. According to a University of Colorado Cancer Center study published in Cancer, the official journal of the American Cancer Society, different subgroups of non-small cell lung cancer (NSCLC) show distinct patterns of spread in the body.

3 Feb 2012

Immune cells from healthy individuals effectively kill cancer cells

Immune cells from healthy individuals can be the new immune cure for cancer. This treatment can kill cancer cells without destroying neighbouring cells. The hope is to eradicate cancer for ever.

3 Feb 2012

Australian bird flu scare spurs widespread poultry bans

After the bird flu outbreak at two Victorian duck farms, other countries like Japan, Vietnam, Singapore and Hong Kong have placed bans on all poultry products from Victoria and across Australia. South Africa is also now asking certification that an Australian poultry import has not come from within 20km of the quarantined sites.

2 Feb 2012

Researchers identify mechanism that leads to ischemia-reperfusion damage

For patients with incurable pulmonary conditions, a lung transplantation is the only available treatment option. However, suitable donor organs are scarce, and even getting them to prospective recipients is not easy. As Professor Alexander Dietrich of the Walther Straub Institute of Pharmacology and Toxicology at LMU explains, "An isolated lung which is no longer perfused with blood can become so severely damaged that it is no longer functional. This so-called ischemia-reperfusion injury is one of the major problems in the field of lung transplantation."

2 Feb 2012

Cancer Genomics now available online

Genome Research publishes online and in print today a special issue entitled, "Cancer Genomics," highlighting insights gained form cutting-edge genomic and epigenomic analyses of cancer.

2 Feb 2012

Natural resistance to flu could hold key to universal vaccine

Researchers have found that on infecting 41 healthy volunteers with different strains of flu virus, those with higher levels of a specific type of white blood cell were less likely to develop severe illness. Now the team of researchers hopes to mimic the natural resistance shown by some of the volunteers, by creating a vaccine that boosts levels of a particular subset of the 'T-cells'.

1 Feb 2012

Cystic fibrosis drug gets FDA approval

A drug – the first of its kind - that treats the root cause of cystic fibrosis won approval Tuesday. This could be a ray of hope for patients with the deadly illness and broader hope for thousands more patients with the inherited disease.

1 Feb 2012

Researchers use liquid laser to diagnose genetic mutations linked with cancer

Using a liquid laser, University of Michigan researchers have developed a better way to detect the slight genetic mutations that might predispose a person to a particular type of cancer or other diseases.

1 Feb 2012

TGen, UA receive NFCR grant to study targeted pancreatic cancer therapies

The Translational Genomics Research Institute (TGen) and the University of Arizona (UA) have received a three-year, $600,000 grant to study targeted cancer therapies from the National Foundation for Cancer Research.

1 Feb 2012

Dana-Farber receives MLSC grant to expand cancer imaging research

The Massachusetts Life Sciences Center has awarded Dana-Farber Cancer Institute a $10 million grant to support the expansion of its pioneering cancer imaging research program.

1 Feb 2012

Specific gene mutation triggers development of NAFLD

A team of scientists from the University of Utah and the University of California at San Francisco has discovered that the mutation of a gene encoding a ketone body transporter triggers accumulation of fat and other lipids in the livers of zebrafish.

1 Feb 2012

Crizotinib can treat ROS1-driven tumors

A report from investigators at the Massachusetts General Hospital (MGH) Cancer Center has defined the role of a recently identified gene abnormality in a deadly form of lung cancer. Tumors driven by rearrangements in the ROS1 gene represent 1 to 2 percent of non-small-cell lung cancers (NSCLC), the leading cause of cancer death in the U.S.

1 Feb 2012