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University of Utah software successfully identifies diseases with unknown gene mutations in three separate cases

A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics. The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families.

22 Apr 2014

Researcher explores public perceptions related to newborn screening programs

While 94 per cent of Canadians surveyed said they would participate in public health programs that screen newborns for a specific number of genetic conditions, only 80 per cent said they would be willing to participate in screening that would sequence their newborns' genomes.

22 Apr 2014

Research sheds new light on the development of HPV-associated cancer

It's long been known that certain strains of human papillomavirus (HPV) cause cancer. Now, researchers at The Ohio State University have determined a new way that HPV might spark cancer development - by disrupting the human DNA sequence with repeating loops when the virus is inserted into host-cell DNA as it replicates.

17 Apr 2014

New mouse study indicates that mutant protein in muscle cells is responsible for SBMA

Sometimes known as Kennedy's disease, spinal and bulbar muscular atrophy (SBMA) is a rare inherited neuromuscular disorder characterized by slowly progressive muscle weakness and atrophy.

17 Apr 2014

Viewpoints: Obamacare dilemma -- some people dislike the law but embrace its provisions; are health costs falling?

Polls have consistently shown that even though the public opposes Obamacare, people like some of its most significant provisions. That's particularly true of the requirement that insurers ignore preexisting conditions when signing up customers for coverage.

16 Apr 2014

Bio-Rad Laboratories buys GnuBIO

GnuBIO, a privately-held life sciences company that has developed a droplet-based DNA sequencing technology, today announced that it was acquired by Bio-Rad Laboratories, Inc. With this acquisition, Bio-Rad will expand its Digital Biology Center and establish a research and development site in Cambridge, Massachusetts.

11 Apr 2014

DNA modifications in blood are directly related to changes in brain tissues, say researchers

Johns Hopkins researchers say they have confirmed suspicions that DNA modifications found in the blood of mice exposed to high levels of stress hormone — and showing signs of anxiety — are directly related to changes found in their brain tissues.

9 Apr 2014

Researchers demonstrate accurate identification of amino acids

Some three billion base pairs make up the human genome-the floor plan of life. In 2003, the Human Genome Project announced the successful decryption of this code, a tour de force that continues to supply a stream of insights relevant to human health and disease.

7 Apr 2014

A fast, non-invasive method to genotype late-onset Alzheimer's disease

The apolipoprotein E gene ε4 allele is considered a negative factor for neural regeneration in late-onset Alzheimer's disease cases.

27 Mar 2014

Not all doctors offer cancer gene testing to patients, study finds

Many cancer researchers believe that cutting-edge advances in genomics will pave the way for personalized or "precision" cancer medicine for all patients in the near future. A new study by researchers at Dana-Farber Cancer Institute, however, suggest that not all doctors are ready to embrace tests that look for hundreds of DNA changes in patients' tumor samples, while others plan to offer this type of cancer gene testing to most of their patients.

25 Mar 2014

Faster DNA sequencing techniques more likely to improve care for patients with breast cancer

Faster and cheaper DNA sequencing techniques will likely improve care for patients with breast cancer but also create challenges for clinicians as they counsel patients on their treatment options.

25 Mar 2014

Study examines events that lead to sepsis by Streptococcus pneumoniae

An international team of academics, including Professor Marco Oggioni from the University of Leicester's Department of Genetics, has studied how localised infections can turn into the dangerous systematic disease sepsis - and has identified for the first time through genetic evidence that a single bacteria could be the cause.

24 Mar 2014

Scientists unlock one of mysteries of modern genetics

Scientists at Indiana University have unlocked one of the mysteries of modern genetics: how acquired traits can be passed between generations in a process called epigenetic inheritance. The new work finds that cells don't know to silence some genes based on information hardwired into their DNA sequences, but recognize heritable chemical marks that are added to the genes. These chemical tags serve as a form of molecular memory, allowing cells to recognize the genes and remember to silence them again in each new generation.

21 Mar 2014

Researchers identify steps by which cell removes RNA from cytoplasm

RNA encodes the proteins that play a key role in cellular reproduction, but the manner in which cells regulate its removal once these proteins are synthesized remains a mystery. One piece of this mystery has been solved as researchers at the University of North Carolina at Chapel Hill who have identified the steps by which a cell removes RNA from the cytoplasm.

21 Mar 2014

USTAR Center for Genetic Discovery to integrate genome data with patient care

The USTAR Center for Genetic Discovery is partnering with California based Omicia, Inc, to make analyzing a patient's genome as routine as performing a blood test.

19 Mar 2014

Researchers to send 48 microbes to International Space Station

Microbes collected from Northern California and throughout the nation will soon blast into orbit for research and a microgravity growth competition on the International Space Station (ISS).

13 Mar 2014

Researchers explore how genetics affects causes and prevalence of preterm birth

More than 450,000 babies are born too soon each year in the U.S. Preterm birth is a serious health problem that costs the nation more than $26 billion annually, according to the Institute of Medicine, and is the leading cause of newborn death.

12 Mar 2014

Scientists use novel metagenomic approaches to characterize microbial communities that reside in human gut

The gut microbiota contains a vast number of microorganisms from all three domains of life, including bacteria, archaea and fungi, as well as viruses. These interact in a complex way to contribute towards both health and the development of disease - interactions that are only now being elucidated thanks to the application of advanced DNA sequencing technology in this field.

10 Mar 2014

Safeguard Scientifics reports net income of $24 million for fourth quarter 2013

Safeguard Scientifics, Inc. today announced fourth quarter and full-year 2013 financial results. For the three months ended December 31, 2013, Safeguard's net income was $24.0 million, or $1.10 per share, compared to net loss of $10.8 million, or $0.51 per share for the same period in 2012. For the year ended December 31, 2013, Safeguard's net loss was $35.5 million, or $1.66 per share, compared to $39.4 million, or $1.88 per share for the same period in 2012.

6 Mar 2014

Study to understand role of bacterium in heart valve disease

A disease-causing bacterium found in the mouth needs manganese, a trace mineral, in order to cause a serious heart infection, according to a preclinical study led by researchers at Virginia Commonwealth University Philips Institute for Oral Health Research in the School of Dentistry.

6 Mar 2014