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CSHL researchers describe new pathway that controls fear memories in the mouse brain

Some people have no fear, like that 17-year-old kid who drives like a maniac. But for the nearly 40 million adults who suffer from anxiety disorders, an overabundance of fear rules their lives. Debilitating anxiety prevents them from participating in life's most mundane moments, from driving a car to riding in an elevator.

20 Jan 2015

Study leads to discovery of rare genetic disorder

Recently, a grassroots effort initiated by families and clinicians led to the discovery of a human genetic disorder with severe consequences that is linked to a mutation in the human NGLY1 gene. In a big step towards understanding the effects of this mutation, research by scientists at the RIKEN-Max Planck Joint Research Center in Japan implicates the enzyme ENGase as the factor responsible for deficient protein degradation that occurs in the absence of mouse Ngly1 gene expression.

19 Jan 2015

Researchers gain new insight into fragile X syndrome

Scientists have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms.

17 Jan 2015

Researchers reveal how melanoma becomes resistant to promising new drug combo therapy

In a new study led by UCLA Jonsson Comprehensive Cancer Center member Dr. Roger Lo, researchers have uncovered how melanoma becomes resistant to a promising new drug combo therapy utilizing BRAF+MEK inhibitors in patients after an initial period of tumor shrinkage.

16 Jan 2015

Researchers uncover new gene tied to incurable eye disorder

An exhaustive hereditary analysis of a large Louisiana family with vision issues has uncovered a new gene tied to an incurable eye disorder called retinitis pigmentosa, according to an examination led by scientists at The University of Texas Health Science Center at Houston.

16 Jan 2015

Study: Century-old drug may help treat autism

Autism spectrum disorders (ASD) affect 1 to 2 percent of children in the United States. Hundreds of genetic and environmental factors have been shown to increase the risk of ASD. Researchers at UC San Diego School of Medicine previously reported that a drug used for almost a century to treat trypanosomiasis, or sleeping sickness, reversed environmental autism-like symptoms in mice.

16 Jan 2015

John H. Postlethwait selected to receive GSA's George W. Beadle Award

The Genetics Society of America is pleased to announce that John H. Postlethwait, PhD (University of Oregon) has been selected to receive the Society's George W. Beadle Award for outstanding contributions to the community of genetics researchers.

16 Jan 2015

New research sheds light on the role of Sox10 protein in Hirschsprung's disease patients

Defects in the protein Sox10, a transcription factor that regulates gene expression, may play a role in the development of post-operative GI dysfunction in Hirschsprung's disease patients, according to new research published in Cellular and Molecular Gastroenterology and Hepatology, the new basic science journal of the American Gastroenterological Association.

16 Jan 2015

Lung cancer rates are lower in higher-elevation counties, new study finds

Here's another potential reason to live up in the mountains. Lung cancer rates in both smokers and non-smokers are lower in higher-elevation counties in the western part of the United States, suggesting that oxygen may promote the incidence of lung cancer, according to a new study co-authored by a student at the Perelman School of Medicine at the University of Pennsylvania.

15 Jan 2015

TERT mutations may make smokers more susceptible to emphysema

Mutations in a gene that helps repair damaged chromosome ends may make smokers — especially female smokers — more susceptible to emphysema, according to results of a new study led by Johns Hopkins Kimmel Cancer Center researchers.

14 Jan 2015

Sophia Genetics obtains CE-IVD marking for BRCA1/2 testing solution

Sophia Genetics, the European leader in Data Driven Medicine, has today obtained CE-IVD marking for its solution to detect BRCA1/2 associated genetic variants in live tumours.

14 Jan 2015

Research findings may lead to new treatment for hypothyroidism

An international research team led by physician-scientists at Rush University Medical Center have gained new insights into hypothyroidism - a condition affecting about 10 million people in the U.S. - that may lead to new treatment protocols for the disease, particularly among the approximately 15 percent of patients for whom standard treatments are less effective.

14 Jan 2015

Atmospheric oxygen may play role in lung carcinogenesis, new study suggests

The ancient physician/alchemist, Paracelsus, said: "The dose makes the poison." According to a new study published in PeerJ, even oxygen may fall prey to the above adage. While essential to human life, aspects of oxygen metabolism may promote cancer. Capitalizing on the inverse relationship of oxygen concentration with elevation, researchers found lower rates of lung cancer at higher elevations, a trend that did not extend to non-respiratory cancers, suggesting that carcinogen exposure occurs via inhalation.

14 Jan 2015

Genetic finding could lead to new treatments for people living with blindness, vision loss

Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular level, helps predict the future visual prognosis, suggests therapies, and allows some patients to join clinical trials. While more than 200 genes for retinal degenerations have been identified, approximately 40-50% of cases remain a mystery.

13 Jan 2015

TSRI researchers identify enzyme that produces inflammatory lipid molecules in the brain

A team led by scientists at The Scripps Research Institute has identified an enzyme that produces a class of inflammatory lipid molecules in the brain. Abnormally high levels of these molecules appear to cause a rare inherited neurodegenerative disorder, and that disorder now may be treatable if researchers can develop suitable drug candidates that inhibit this enzyme.

13 Jan 2015

EGFR mutations, ALK translocations not mutually exclusive in NSCLC

Researchers from the Republic of Korea have found that epidermal growth factor receptor mutations and anaplastic lymphoma kinase translocations can occur concomitantly in a proportion of patients with non-small-cell lung cancer.

12 Jan 2015

PF-114 shows promise in therapy-resistant CML, Ph-positive ALL

PF-114, a selective tyrosine kinase inhibitor, is active against native and mutated forms of the BCR–ABL oncogene in Philadelphia chromosome-positive leukaemias, according to preclinical cellular and in vivo results published in Leukemia.

12 Jan 2015

HLI gains access to PGDx's cancer genomics solutions to expand cancer genome analysis

Personal Genome Diagnostics, Inc., a provider of advanced cancer genome analysis and testing services, and Human Longevity, Inc., the human health information technology and health care company, today announced that HLI will have access to PGDx's cancer genomics solutions to expand its analysis of cancer genomes, including CancerSelect, PlasmaSelect, CancerXome, METDetect and CancerComplete.

12 Jan 2015

QIAGEN's circulating tumor DNA test CE-IVD marked to assess genomic mutation NSCLC patients

QIAGEN announced today the CE-IVD marking of its novel liquid biopsy-based companion diagnostic that analyzes circulating nucleic acids obtained from blood samples to assess an important genomic mutation in patients with non-small cell lung cancer (NSCLC), the most common form of this cancer.

From QIAGEN Manchester Limited 12 Jan 2015

Family history could help physicians identify prostate cancer risk

A discovery by researchers at Huntsman Cancer Institute shows that looking at whether a man's uncles and great-grandparents, among other second- and third-degree relatives, had prostate cancer could be as important as looking at whether his father had prostate cancer. A more complete family history would give physicians a new tool to decide whether or not a PSA test was appropriate.

12 Jan 2015