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Loss of IGSF1 gene function causes central hypothyroidism

Loss of function in the X-linked immunoglobulin superfamily member 1 (IGSF1) gene causes central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to data presented at the 82nd Annual Meeting of the American Thyroid Association in Québec City, Québec, Canada.

21 Sep 2012

First extensive analysis of Allen Human Brain Atlas

Scientists at the Allen Institute for Brain Science reported in the latest issue of the journal Nature that human brains share a consistent genetic blueprint and possess enormous biochemical complexity. The findings stem from the first deep and large-scale analysis of the vast data set publicly available in the Allen Human Brain Atlas.

21 Sep 2012

NIH announces multiple awards to UCLA Center for Autism Research and Treatment

The National Institutes of Health, recognizing UCLA's preeminence in both research and clinical care for children with autism, has announced multiple awards to the university as part of the agency's Autism Centers of Excellence (ACE) research program.

20 Sep 2012

Molecular disruptions in granule cells cause epileptic seizures in mice

Scientists have discovered the first direct evidence that a biological mechanism long suspected in epilepsy is capable of triggering brain seizures – opening the door for studies to seek improved treatments or even preventative therapies.

20 Sep 2012

Boehringer Ingelheim files MAA with EMA for afatinib approval

Today, Boehringer Ingelheim has announced the submission of a Marketing Authorisation Application to the European Medicines Agency (EMA) for approval of afatinib, the first irreversible ErbB Family Blocker, as a treatment for patients with EGFR (ErbB1) mutation positive non-small cell lung cancer (NSCLC). Afatinib has demonstrated unprecedented efficacy versus chemotherapy in the Phase III LUX-Lung 3 registration trial, which provides pivotal support for this submission.

20 Sep 2012

Complete story behind connection between XMRV virus and prostate cancer

A once-promising discovery linking prostate cancer to an obscure retrovirus derived from mice was the result of an inadvertent laboratory contamination, a forensic analysis of tissue samples and lab experiments - some dating back nearly a decade - has confirmed.

20 Sep 2012

UC San Diego’s bold plan aims to personalize cancer treatment

UC San Diego Moores Cancer Center launched a bold plan today aimed at personalizing cancer treatment. The "My Answer to Cancer" team of oncologists, bioinformaticians, pathologists and geneticists pledges to "sequence" or analyze the DNA of large numbers of patients with cancer in order to match each patient to the best available drug for his or her particular tumor.

19 Sep 2012

Study finds major reason why melanoma is largely resistant to chemotherapy

Researchers with UC Irvine's Chao Family Comprehensive Cancer Center have identified a major reason why melanoma is largely resistant to chemotherapy.

18 Sep 2012

Biologists elucidate how muscle stem cells colonize special niches

Muscles have a pool of stem cells which provides a source for muscle growth and for regeneration of injured muscles. The stem cells must reside in special niches of the muscle for efficient growth and repair.

18 Sep 2012

New light-based technique demonstrates that toxic proteins build up gradually in blood cells

A new light-based technique for measuring levels of the toxic protein that causes Huntington's disease (HD) has been used to demonstrate that the protein builds up gradually in blood cells. Published today (17th) in the Journal of Clinical Investigation, the findings shed light on how the protein causes damage in the brain, and could be useful for monitoring the progression of HD, or testing new drugs aimed at suppressing production of the harmful protein.

18 Sep 2012

Vitamin E may prevent cancer in patients with Cowden Syndrome

Cleveland Clinic researchers have discovered that vitamin E may prevent cancer in patients with an under-recognized genetic disorder.

18 Sep 2012

Ionizing radiation imaging raises breast cancer risk in BRCA1/2 carriers

Exposure to ionizing radiation at an early age increases the risk for breast cancer among women with BRCA1/2 mutations, reveals research published in the BMJ.

17 Sep 2012

MediSapiens launches unified cloud computing application for personalized genomics

MediSapiens launches first-in-kind fully integrated and unified cloud computing application that harnesses the power of Big Data and enables knowledge-based drug discovery and repositioning for personalized genomics.

17 Sep 2012

Researchers identify gene mutations in Wolfram syndrome that affects insulin-secreting beta cells

The rare disorder Wolfram syndrome is caused by mutations in a single gene, but its effects on the body are far reaching. The disease leads to diabetes, hearing and vision loss, nerve cell damage that causes motor difficulties, and early death.

17 Sep 2012

NIH announces multiple awards to UCLA Center for Autism Research and Treatment

The National Institutes of Health, recognizing UCLA's preeminence in both research and clinical care of children with autism, has announced multiple awards to the university as part of its Autism Centers of Excellence (ACE) research program.

17 Sep 2012

Limited positive effect of Tafamidis in neurological disorders

Tafamidis meglumine was approved in November 2011 for the treatment of transthyretin amyloidosis in adults.

17 Sep 2012

Novel drug combination for patients with NRAS-mutant melanoma

A new study published online in Nature Medicine, led by scientists at The University of Texas MD Anderson Cancer Center, describes the discovery of a novel drug combination aimed at a subset of melanoma patients who currently have no effective therapeutic options.

17 Sep 2012

Drug-resistant tuberculosis: an interview with Sven Hoffner

In contrast to drug-susceptible tuberculosis, which can be cured with available drug therapies, drug-resistant, and especially multi-drug resistant, tuberculosis is much more difficult to cure and it takes a much longer time for patients to become non-infectious.

17 Sep 2012

PARP inhibitors may be novel treatment strategy in women with HER2-positive breast cancers

Poly (ADP-Ribose) polymerase (PARP) inhibitors, shown to have clinical activity when used alone in women with familial breast and ovarian cancers linked to BRCA mutations, may be a novel treatment strategy in women with HER2-positive breast cancers, according to the results of a study published in Cancer Research, a journal of the American Association for Cancer Research.

17 Sep 2012

MVK mutations linked to disseminated superficial actinic porokeratosis

A Chinese research team, led by Anhui Medical University and BGI, has found the strong genetic evidences of mevalonate kinase gene (MVK) mutations link to disseminated superficial actinic porokeratosis (DSAP).

17 Sep 2012