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Scientists study organ development in mice to unravel how breast cancers develop in people

Reviving a theory first proposed in the late 1800s that the development of organs in the normal embryo and the development of cancers are related, scientists at the Salk Institute for Biological Studies have studied organ development in mice to unravel how breast cancers, and perhaps other cancers, develop in people. Their findings provide new ways to predict and personalize the diagnosis and treatment of cancer.

8 Feb 2012

Tailoring TB treatment based on a patient's genetic sequence

A gene that influences the inflammatory response to infection may also predict the effectiveness of drug treatment for a deadly form of tuberculosis.

8 Feb 2012

Link between inflammation-related genes and risk of ovarian cancer

In a study conducted by researchers at Moffitt Cancer Center and colleagues from 11 other institutions in the Unites States and the United Kingdom, genes that are known to be involved in inflammation were found to be related to risk of ovarian cancer.

7 Feb 2012

Alexion acquires Enobia Pharma

Alexion Pharmaceuticals, Inc. today announced that the Company has completed its previously announced acquisition of 100% of the capital stock of Enobia Pharma Corp., a private biopharmaceutical company focused on the development of therapies to treat patients with ultra-rare and life-threatening genetic metabolic disorders.

7 Feb 2012

TGen to host Pediatric Cancer Translational Genomics in Scottsdale

The Translational Genomics Research Institute (TGen) will host Pediatric Cancer Translational Genomics Feb. 6-8 at the Hotel Valley Ho in Scottsdale, bringing together more than 150 leading pediatric cancer researchers, clinicians and foundations to promote the exchange of information and ideas for advancing pediatric cancer research and treatment.

7 Feb 2012

Cyclin D1 oncogene may promote chromosomal instability

A team of researchers at Jefferson's Kimmel Cancer Center (KCC) led by Richard G. Pestell, M.D., PhD., FACP, Director of the KCC and Chair of the Department of Cancer Biology, have shown in a study published online Feb. 6 in the Journal of Clinical Investigation that the oncogene cyclin D1 may promote a genetic breakdown known as chromosomal instability (CIN). CIN is a known, yet poorly understood culprit in tumor progression.

7 Feb 2012

First European CPGs for diagnosis and management of Wilson's disease

The first European Clinical Practice Guidelines (CPGs) for the diagnosis and management of Wilson's disease are published today by the European Association for the Study of the Liver (EASL) on the EASL website.

7 Feb 2012

Researchers reveal how molecular imaging can solve breast cancer mysteries

In two new studies featured in the February issue of the Journal of Nuclear Medicine, researchers are revealing how molecular imaging can be used to solve mysteries about difficult cases of breast cancer.

7 Feb 2012

Genomic Health plans to establish wholly owned subsidiary

Genomic Health, Inc. today announced plans to establish a wholly owned subsidiary with the goal of improving the quality of diagnosis, communication and support for millions of patients and their families faced with common and rare genetic conditions.

7 Feb 2012

Researchers derive vessel-forming stem cells from amniotic fluid

Researchers at Rice University and Texas Children's Hospital have turned stem cells from amniotic fluid into cells that form blood vessels. Their success offers hope that such stem cells may be used to grow tissue patches to repair infant hearts.

7 Feb 2012

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

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

Environmental aspects rather than genes play a major role in MCI in non-demented elderly

Both subjective and objective cognitive impairment are highly common among non-demented elderly Swedes, with an overall prevalence of 39 percent and 25 percent respectively, according to a nationwide twin study by researchers at the Aging Research Center of Karolinska Institutet, Sweden.

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

Tennessee Gov. declares February as 'St. Jude Month'

In 1962, St. Jude Children's Research Hospital opened its doors amid an emotionally charged debate regarding how to treat childhood cancer. At that time, few children with the most common form of childhood cancer survived, and many physicians believed treatment was futile. St. Jude physicians and researchers took a radically different approach, and these efforts proved pivotal in changing the way the world treats childhood cancer.

6 Feb 2012

Scientists identify genetic variant that increases risk of ischemic stroke

A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics today. This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new possibilities for treatment.

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