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TAU researchers identify novel genetic mutation as source of specific rare disease

Rare diseases -- those that affect fewer than one in 200,000 people -- are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the U.S. Orphan Drug Act of 1983 was written into law to promote research on the topic, the cost of identifying the source and progression of these diseases remains prohibitive for many families.

10 Feb 2015

Researchers identify axitinib as promising candidate to treat drug-resistant leukaemia

A study led by researchers at the Institute for Molecular Medicine Finland FIMM and Faculty of Medicine, University of Helsinki and the Helsinki University Central Hospital Comprehensive Cancer Center, in close collaboration with researchers at Pfizer, has identified a previously unrecognized action of Pfizer's axitinib as a potent inhibitor of the dominant mutation that confers drug resistance to all well tolerated treatments in patients with certain types of leukemia.

10 Feb 2015

Japanese researchers explore use of bone marrow transplants to treat hypophosphatasia

Recent research carried out by a team of researchers in Japan has investigated the use of bone marrow transplants (BMTs) to treat hypophosphatasia (HPP). In this study, the researchers carried out BMT for two infants with HPP in combination with allogenic (other-donated) mesenchymal stem cell transplants (MSCTs). The allogenic MSC donors were a parent of the infant.

10 Feb 2015

Quest Diagnostics, Myriad Genetics reach agreement to end BRCA gene-patent litigation

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced that it and Myriad Genetics Inc. have reached an agreement that ends their BRCA gene-patent litigation.

From Quest Diagnostics 10 Feb 2015

Mice genetically deficient in serotonin are more vulnerable to social stressors

Mice genetically deficient in serotonin -- a crucial brain chemical implicated in clinical depression -- are more vulnerable than their normal littermates to social stressors, according to a Duke study appearing this week in the Proceedings of the National Academy of Sciences.

10 Feb 2015

Study links previously unknown genetic anomalies to breast cancer in African American family members

The "Jewels in our Genes" study, led by University at Buffalo researcher Heather Ochs-Balcom, has uncovered previously unknown segments of DNA shared by African American family members who have breast cancer. "The discovery of these regions supports our hypothesis that there are still undiscovered breast cancer genes that may be unique to African Americans," says Ochs-Balcom, PhD, a genetic epidemiologist in the UB Department of Epidemiology and Environmental Health.

10 Feb 2015

Cancer researchers find important clues to why tumor cells become 'good' or 'bad'

For the first time, Keck Medicine of the University of Southern California cancer researchers have traced the origins of colorectal cancer cells, finding important clues to why tumor cells become "good" or "bad," with the potential of stopping them before they start.

10 Feb 2015

Combination therapies may overcome resistance to targeted cancer drugs

A protein called YAP, which drives the growth of organs during development and regulates their size in adulthood, plays a key role in the emergence of resistance to targeted cancer therapies, according to a new study led by UC San Francisco researchers.

10 Feb 2015

DNA strands predict life expectancy

BYU biologist Jonathan Alder has a startling secret he doesn't freely share: he knows when most of us are going to die.

9 Feb 2015

Abiraterone drug improves survival in prostate cancer patients when given before chemotherapy

Pioneering prostate cancer drug abiraterone significantly extends the lives of men with advanced prostate cancer if given before chemotherapy, the results of a major phase III clinical trial have shown.

9 Feb 2015

Personalized prevention, treatments of cancer now accessible through Stanford University's new genetics course

Instrumental research that aims to enhance how we predict, diagnose and design personalized prevention and treatments of cancer is now accessible through Stanford University's latest professional education course, Understanding Cancer at the Genetic Level.

9 Feb 2015

CLL aggressiveness linked to genetic variability

The genetic variability of a tumour could be a predictor for its aggressiveness: the greater the variability in gene expression, the more aggressive the tumour is likely to be. This is the hypothesis that the CNIO Structural Biology and Biocomputing Programme, led by Alfonso Valencia, is testing, after their findings on chronic lymphocytic leukaemia (CLL), now published in the journal Genome Medicine.

6 Feb 2015

New study provides better understanding of how stem cells give rise to tumors

Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have discovered a precise stem cell signaling process that can lead to intestinal tumors if disrupted. The findings add to our understanding of how stem cells give rise to tumors and identify specific stem cell molecules that may be targeted to prevent the onset, progression, and recurrence of intestinal cancers.

6 Feb 2015

Vanderbilt researchers find link between the biological clock and Angelman syndrome

Monitoring participants' biological clocks may be the quickest way to determine the effectiveness of experimental drugs currently under development to treat Angelman syndrome: a debilitating genetic disorder that occurs in more than one in every 15,000 live births.

6 Feb 2015

Newly found protein in naked mole rat helps ward off cancer

A protein newly found in the naked mole rat may help explain its unique ability to ward off cancer.

5 Feb 2015

Johns Hopkins researchers successfully deliver new nanoparticle gene therapy to treat glioma in rats

Despite improvements in the past few decades with surgery, chemotherapy and radiation therapy, a predictably curative treatment for glioma does not yet exist. New insights into specific gene mutations that arise in this often deadly form of brain cancer have pointed to the potential of gene therapy, but it's very difficult to effectively deliver toxic or missing genes to cancer cells in the brain.

5 Feb 2015

Three Keck Medicine scientists of USC receive $4.3 million from CIRM for stem cell research

Three scientists from Keck Medicine of the University of Southern California have won grants exceeding $4.3 million from the California Institute for Regenerative Medicine for research that includes creating a temporary liver for transplant patients, finding novel ways to treat immune disorders and blood diseases and developing a new animal model for exploring diseases like heart failure, diabetes and neurodegenerative diseases.

5 Feb 2015

Genomics of papillary thyroid carcinoma (PTC): an interview with Professor Thomas J. Giordano

There are two types of thyroid cells and therefore there are two broad types of thyroid cancer. Medullary carcinoma is derived from parafollicular or C cells, whereas follicular cells give rise to several types of thyroid cancers.

4 Feb 2015

Epidemiologist urges people to get vaccinated against measles

Americans may be victims of their own success when it comes to the eradication of infectious diseases and take their disease-free lives for granted, says Jorge Parada, MD, hospital epidemiologist and medical director of the Infection Prevention and Control program at Loyola University Health System.

4 Feb 2015

Study demonstrates therapeutic potential of new class of synthetic oligonucleotides for DMD treatment

Research efforts associating scientists from the CNRS, UVSQ and INSERM within the Laboratoire END-ICAP, working in collaboration with a team from the University of Bern, has demonstrated the therapeutic potential of a new class of synthetic oligonucleotides in the treatment of Duchenne muscular dystrophy (DMD) using RNA "surgery".

4 Feb 2015

Mutation News and Research

TAU researchers identify novel genetic mutation as source of specific rare disease

Researchers identify axitinib as promising candidate to treat drug-resistant leukaemia

Japanese researchers explore use of bone marrow transplants to treat hypophosphatasia

Quest Diagnostics, Myriad Genetics reach agreement to end BRCA gene-patent litigation

Mice genetically deficient in serotonin are more vulnerable to social stressors

Study links previously unknown genetic anomalies to breast cancer in African American family members

Cancer researchers find important clues to why tumor cells become 'good' or 'bad'

Combination therapies may overcome resistance to targeted cancer drugs

DNA strands predict life expectancy

Abiraterone drug improves survival in prostate cancer patients when given before chemotherapy

Personalized prevention, treatments of cancer now accessible through Stanford University's new genetics course

CLL aggressiveness linked to genetic variability

New study provides better understanding of how stem cells give rise to tumors

Vanderbilt researchers find link between the biological clock and Angelman syndrome

Newly found protein in naked mole rat helps ward off cancer

Johns Hopkins researchers successfully deliver new nanoparticle gene therapy to treat glioma in rats

Three Keck Medicine scientists of USC receive $4.3 million from CIRM for stem cell research

Genomics of papillary thyroid carcinoma (PTC): an interview with Professor Thomas J. Giordano

Epidemiologist urges people to get vaccinated against measles

Study demonstrates therapeutic potential of new class of synthetic oligonucleotides for DMD treatment

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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