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CIB2 gene responsible for progression and severity of Usher syndrome

Usher syndrome is a hereditary disease in which affected individuals lose both hearing and vision. The impact of Usher syndrome can be devastating. In the United States, approximately six in every 100,000 babies born have Usher syndrome.

2 Oct 2012

Novel target identified for fragile X-linked autism

Researchers have elucidated a novel mechanism through which fragile X syndrome may contribute to behavioural symptoms of autism and identified a potential therapeutic target.

1 Oct 2012

Addition of ficlatuzumab to gefitinib may be effective in select subsets of patients with NSCLC

AVEO Oncology today announced that detailed results from an exploratory, randomized Phase 2 study evaluating the combination of ficlatuzumab, the company's HGF inhibitory antibody, and gefitinib compared to gefitinib monotherapy in previously untreated Asian subjects with non-small cell lung cancer (NSCLC) were presented at the 2012 Congress of the European Society for Medical Oncology (ESMO).

1 Oct 2012

Study opens new door to more personalized treatment of advanced breast cancer

For the first time, researchers have conducted a large trial in which they tested the entire genome of individual breast cancers to help personalize treatment. They released their findings at the ESMO 2012 Congress of the European Society for Medical Oncology in Vienna.

1 Oct 2012

Combination of dabrafenib and trametinib delays development of treatment resistance in MM patients

Combined treatment with two drugs targeting different points in the same growth-factor pathway delayed the development of treatment resistance in patients with BRAF-positive metastatic malignant melanoma.

1 Oct 2012

Crizotinib effectively treats patients with ALK-positive lung cancer

The results of a new phase III trial show that crizotinib, a targeted therapy, is a more effective treatment than standard chemotherapy for patients with advanced, ALK-positive lung cancer, researchers said at the ESMO 2012 Congress of the European Society for Medical Oncology in Vienna.

1 Oct 2012

Exelix reports preliminary data from cabozantinib phase 1 study on solid tumors

Exelixis, Inc. today reported preliminary data from an ongoing phase 1 dose escalation study of cabozantinib in Japan.

1 Oct 2012

CIB2 genetic mutation responsible for deafness associated with Usher syndrome type 1

Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.

1 Oct 2012

Sorafenib does not improve overall survival among patients with NSCLC

Treatment with the drug sorafenib as a third or fourth line therapy does not result in improved overall survival among patients with advanced non-small cell lung cancer (NSCLC), according to findings released at the ESMO 2012 Congress of the European Society for Medical Oncology in Vienna. However, a post-hoc biomarker analysis of the trial data that was also presented suggests that patients with EGFR-mutant tumors may benefit.

29 Sep 2012

ARIAD announces initial results from AP26113 Phase 1/2 trial on non-small cell lung cancer

ARIAD Pharmaceuticals, Inc. today announced the initial clinical results on its investigational, tyrosine-kinase inhibitor, AP26113, in patients with advanced non-small cell lung cancer (NSCLC) from an ongoing Phase 1/2 trial.

29 Sep 2012

First report to study clonal population of maxillary sinus carcinoma

Knowing how tumors evolve can lead to new treatments that could help prevent cancer from recurring, according to a study published today by the Translational Genomics Research Institute (TGen) and Scottsdale Healthcare.

29 Sep 2012

Drug combinations show promise against metastatic melanoma

Promising new data on drug combinations to treat metastatic melanoma are presented at the ESMO 2012 Congress of the European Society for Medical Oncology in Vienna.

29 Sep 2012

Exelixis announces preliminary results from BRIM7 Phase Ib trial on BRAFV600 mutated MM

Exelixis, Inc. today announced preliminary results from BRIM7, an ongoing Phase Ib trial conducted by Roche and Genentech, Exelixis' collaborator and a member of the Roche Group, of the BRAF inhibitor (BRAFi) vemurafenib in combination with the MEK inhibitor GDC-0973 in patients with locally advanced/unresectable or metastatic melanoma carrying a BRAFV600 mutation.

29 Sep 2012

New trial data shows improvements in treatment of esophageal and gastrointestinal cancers

New trial data showing improvements in the treatment of esophageal and gastrointestinal cancers were released today at the ESMO 2012 Congress of the European Society for Medical Oncology in Vienna.

29 Sep 2012

Molecular link between spinal muscular atrophy and amyotrophic lateral sclerosis

Researchers of motor neuron diseases have long had a hunch that two fatal diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), might somehow be linked. A new study confirms that this link exists.

28 Sep 2012

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

Inhibiting TRPV4 protects against diet-induced obesity, inflammation and insulin resistance

Ember Therapeutics, Inc., a company harnessing breakthroughs in brown fat biology and insulin sensitization to revolutionize the treatment of metabolic disease, today announced the publication of key preclinical data demonstrating that inhibition of the Transient Receptor Potential Vanilloid (TRPV) family of ion channels - specifically TRPV4 - resulted in activation of brown/beige fat and protection from diet-induced obesity, inflammation and insulin resistance. Ember holds an exclusive option to license these TRPV4 findings and technology.

28 Sep 2012

UNMCC researcher to investigate possible mechanism for cancer tumor development

Most of us think of DNA mutations as the culprits that cause cancer. Scott Ness, PhD, University of New Mexico Professor of Molecular Genetics and Microbiology and Associate Director at the UNM Cancer Center, thinks there may be another, more elusive culprit. If Dr. Ness is right his research, funded as part of the National Cancer Institute's Provocative Questions Project, might open a whole new arena in which to target anticancer drugs.

28 Sep 2012

UCSD receives NCI grant to continue research into chronic lymphocytic leukemia

An international consortium of scientists studying chronic lymphocytic leukemia (CLL), based at the University of California, San Diego School of Medicine, has been awarded a 5-year, $20 million grant by the National Cancer Institute, part of the National Institutes of Health.

28 Sep 2012

Combination of two neuroprotective therapies shows promise against Alzheimer's

The combination of two neuroprotective therapies, voluntary physical exercise, and the daily intake of melatonin has been shown to have a synergistic effect against brain deterioration in rodents with three different mutations of Alzheimer's disease.

27 Sep 2012

Mutation News and Research

CIB2 gene responsible for progression and severity of Usher syndrome

Novel target identified for fragile X-linked autism

Addition of ficlatuzumab to gefitinib may be effective in select subsets of patients with NSCLC

Study opens new door to more personalized treatment of advanced breast cancer

Combination of dabrafenib and trametinib delays development of treatment resistance in MM patients

Crizotinib effectively treats patients with ALK-positive lung cancer

Exelix reports preliminary data from cabozantinib phase 1 study on solid tumors

CIB2 genetic mutation responsible for deafness associated with Usher syndrome type 1

Sorafenib does not improve overall survival among patients with NSCLC

ARIAD announces initial results from AP26113 Phase 1/2 trial on non-small cell lung cancer

First report to study clonal population of maxillary sinus carcinoma

Drug combinations show promise against metastatic melanoma

Exelixis announces preliminary results from BRIM7 Phase Ib trial on BRAFV600 mutated MM

New trial data shows improvements in treatment of esophageal and gastrointestinal cancers

Molecular link between spinal muscular atrophy and amyotrophic lateral sclerosis

Intellectual disability often results from genetic causes that are not inherited

Inhibiting TRPV4 protects against diet-induced obesity, inflammation and insulin resistance

UNMCC researcher to investigate possible mechanism for cancer tumor development

UCSD receives NCI grant to continue research into chronic lymphocytic leukemia

Combination of two neuroprotective therapies shows promise against Alzheimer's

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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