Mutation News and Research

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Gene mutation offers clues to development of diverse neurological disorders

A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer's, Parkinson's and Huntington's diseases.

10 Oct 2013

Team Ritter to raise funds for John Ritter Foundation for Aortic Health at ING NYC Marathon

Friends and family members of people with thoracic aortic disease and fans of the late legendary comedic actor John Ritter will come together as Team Ritter to raise funds for the John Ritter Foundation for Aortic Health at the ING New York City Marathon on Nov. 3, 2013.

10 Oct 2013

Researcher receives grant to explore HER2-positive breast tumor susceptibility to PARP inhibitors

Shih-Hsin (Eddy) Yang, M.D., Ph.D., the ROAR Southeast Cancer Foundation Endowed Chair in the University of Alabama at Birmingham Department of Radiation Oncology, has received a $450,000 grant from Susan G. Komen for the Cure to further investigate HER2-positive breast tumor susceptibility to PARP inhibitors.

10 Oct 2013

New MERS coronavirus emerged from bats to humans: Research

The newly emerged Middle East respiratory syndrome coronavirus has circulated in bats for a substantial time, before making the species leap to humans, according to research published in BioMed Central's open access publication Virology Journal.

10 Oct 2013

Research points to causes, potential treatment approaches for systemic sclerosis

Using mice, lab-grown cells and clues from a related disorder, Johns Hopkins researchers have greatly increased understanding of the causes of systemic sclerosis, showing that a critical culprit is a defect in the way certain cells communicate with their structural scaffolding

10 Oct 2013

Key findings may have broad implications for future scleroderma therapy

The Scleroderma Research Foundation today said that researchers at The Johns Hopkins University working in a novel mouse model of Stiff Skin Syndrome have made key discoveries that may have broad implications for future scleroderma therapy.

10 Oct 2013

HIV infection heralds worse outcomes in NSCLC

Infection with HIV is an indicator of poor prognosis in patients with non-small-cell lung cancer, analysis of epidemiologic data indicates.

9 Oct 2013

Research: Differences between primate brains are the result of the same genetic program

In a breakthrough for understanding brain evolution, neuroscientists have shown that differences between primate brains - from the tiny marmoset to human - can be largely explained as consequences of the same genetic program.

9 Oct 2013

New mathematical model predicts biological process that creates antibody diversity

Scientists at USC have created a mathematical model that explains and predicts the biological process that creates antibody diversity - the phenomenon that keeps us healthy by generating robust immune systems through hypermutation.

9 Oct 2013

Next-generation sequencing technology effective for detecting BRCA1 and BRCA2 mutations

The recognition of a causal link between mutations in BRCA1 and BRCA2 genes and increased risk of developing breast and ovarian cancer has intensified the demand for genetic testing. Identifying mutations in these large genes by conventional methods can be time consuming and costly.

9 Oct 2013

Study: Distinct behavior of proteins reflects common biochemical principles

Researchers from Case Western Reserve University School of Medicine have found unexpected similarities between proteins that were thought to be fundamentally different.

9 Oct 2013

Retinitis pigmentosa test identifies mutation found in Ashkenazi Jewish population

You might not think to look to a urine test to diagnose an eye disease. But a new Duke University study says it can link what is in a patient's urine to gene mutations that cause retinitis pigmentosa, or RP, an inherited, degenerative disease that results in severe vision impairment and often blindness. The findings appear online in the Journal of Lipid Research.

9 Oct 2013

Two gene mutations associated with increased risk of developing eating disorders

Eating disorders like anorexia nervosa and bulimia often run in families, but identifying specific genes that increase a person's risk for these complex disorders has proved difficult.

9 Oct 2013

Alnylam advances Development Candidate for ALN-AS1 for treatment of hepatic porphyrias

Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), a leading RNAi therapeutics company, announced today that it is advancing its Development Candidate for ALN-AS1, an RNAi therapeutic targeting aminolevulinate synthase-1 (ALAS-1) for the treatment of hepatic porphyrias including acute intermittent porphyria (AIP).

9 Oct 2013

MRFBC launches clinical trial to assess impact of bevacizumab and vemurafenib in melanoma patients

The Melanoma Research Foundation Breakthrough Consortium has launched a new clinical trial to assess the impact of concomitant administration of bevacizumab (Avastin) with vemurafenib (Zelboraf) in patients with BRAFV600 mutation positive metastatic melanoma.

8 Oct 2013

Boehringer Ingelheim’s interim data from Phase II HCV clinical collaboration with Presidio Pharmaceuticals accepted for presentation at AASLD

Boehringer Ingelheim today announced that interim data from its Phase II hepatitis C (HCV) clinical collaboration with Presidio Pharmaceuticals have been accepted for presentation as a late breaker poster at the 64th Annual Meeting of the American Association for the Study of Liver Diseases (AASLD), taking place 1-5 November in Washington, D.C. (1) The poster presentation will be on Monday 4 November.

8 Oct 2013

Scientists to highlight Bio-Rad's Droplet Digital PCR applications at CHI Digital PCR Conference

Since its introduction in 2011, Bio-Rad Laboratory's Droplet Digital PCR (ddPCR-) technology has demonstrated the potential to be a transformative technology, particularly in clinical applications.

8 Oct 2013

Two gene alterations pair up to promote growth of leukemia cells

Two gene alterations pair up to promote the growth of leukemia cells and their escape from anti-cancer drugs, according to a study in The Journal of Experimental Medicine.

8 Oct 2013

Researchers re-invented class of popular antimicrobial drugs by altering their chemical structures

By tinkering with their chemical structures, researchers at the University of California, San Diego School of Medicine have essentially re-invented a class of popular antimicrobial drugs, restoring and in some cases, expanding or improving, their effectiveness against drug-resistant pathogens in animal models.

8 Oct 2013

Two researchers receive $2.5M grant to continue their research on cancer cell growth

A pair of researchers at Rutgers Cancer Institute of New Jersey has been awarded nearly $2.5 million dollars to further study in their respective laboratories.

8 Oct 2013

Mutation News and Research

Gene mutation offers clues to development of diverse neurological disorders

Team Ritter to raise funds for John Ritter Foundation for Aortic Health at ING NYC Marathon

Researcher receives grant to explore HER2-positive breast tumor susceptibility to PARP inhibitors

New MERS coronavirus emerged from bats to humans: Research

Research points to causes, potential treatment approaches for systemic sclerosis

Key findings may have broad implications for future scleroderma therapy

HIV infection heralds worse outcomes in NSCLC

Research: Differences between primate brains are the result of the same genetic program

New mathematical model predicts biological process that creates antibody diversity

Next-generation sequencing technology effective for detecting BRCA1 and BRCA2 mutations

Study: Distinct behavior of proteins reflects common biochemical principles

Retinitis pigmentosa test identifies mutation found in Ashkenazi Jewish population

Two gene mutations associated with increased risk of developing eating disorders

Alnylam advances Development Candidate for ALN-AS1 for treatment of hepatic porphyrias

MRFBC launches clinical trial to assess impact of bevacizumab and vemurafenib in melanoma patients

Boehringer Ingelheim’s interim data from Phase II HCV clinical collaboration with Presidio Pharmaceuticals accepted for presentation at AASLD

Scientists to highlight Bio-Rad's Droplet Digital PCR applications at CHI Digital PCR Conference

Two gene alterations pair up to promote growth of leukemia cells

Researchers re-invented class of popular antimicrobial drugs by altering their chemical structures

Two researchers receive $2.5M grant to continue their research on cancer cell growth

Industry Focus eBook - Cell & Gene Therapy (1st Edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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