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Trovagene adds Duke University Health System to worldwide licensees of NPM1 marker for AML

Trovagene, Inc., a developer of transrenal molecular diagnostics, announced it has granted Duke University and Duke University Health Systems a non-exclusive license to incorporate nucleophosmin protein (NPM1) into research and clinical testing services for acute myelogenous leukemia (AML).

27 Dec 2012

Researchers reveal critical role of BRCA1 gene in maintenance of hair follicle stem cells

Our DNA, which stores our genetic information, is constantly submitted to damage. If not properly repaired, DNA damage can lead to cell death, which may in turn lead to tissue exhaustion and ageing, or induce mutations resulting in uncontrolled cell proliferation and cancer. Brca1 is a key gene that mediates DNA repair. Mutations in Brca1 lead to familial and sporadic breast and ovarian cancer in humans.

27 Dec 2012

Cancer-associated inflammation boosts ADAR1 enzyme activity

An international team, headed by researchers at the University of California, San Diego School of Medicine, has identified a key enzyme in the reprogramming process that promotes malignant stem cell cloning and the growth of chronic myeloid leukemia (CML), a cancer of the blood and marrow that experts say is increasing in prevalence.

25 Dec 2012

BRCA testing impact on ovarian cancer prevention revealed

Research shows that women without a confirmed BRCA mutation are choosing to undergo screening or surgery to prevent ovarian cancer, despite little evidence to support their use in this population.

24 Dec 2012

Autism genome not shy about tinkering with important genes

An international team, led by researchers from the University of California, San Diego School of Medicine, has discovered that "random" mutations in the genome are not quite so random after all. Their study, to be published in the journal Cell on December 21, shows that the DNA sequence in some regions of the human genome is quite volatile and can mutate ten times more frequently than the rest of the genome. Genes that are linked to autism and a variety of other disorders have a particularly strong tendency to mutate.

21 Dec 2012

Novel virus-based gene therapy holds promise for Canavan disease

Research led by Paola Leone, PhD, of the University of Medicine and Dentistry of New Jersey-School of Osteopathic Medicine (UMDNJ-SOM), demonstrates the long term safety and benefit of a virus-based gene therapy that has been applied for the first time in a clinical setting.

21 Dec 2012

New technique may prevent inheritance of mitochondrial diseases in children

A joint team of scientists from The New York Stem Cell Foundation (NYSCF) Laboratory and Columbia University Medical Center (CUMC) has developed a technique that may prevent the inheritance of mitochondrial diseases in children.

21 Dec 2012

Two recent experimental treatments improve visual function in mouse models of retinitis pigmentosa

Two recent experimental treatments - one involving skin-derived induced pluripotent stem (iPS) cell grafts, the other gene therapy - have been shown to produce long-term improvement in visual function in mouse models of retinitis pigmentosa (RP), according to the Columbia University Medical Center (CUMC) scientists who led the studies. At present, there is no cure for RP, the most common form of inherited blindness.

20 Dec 2012

FUS RNA binding ability essential for development of Amyotrophic Lateral Sclerosis

Research led by Dr. Udai Pandey, Assistant Professor of Genetics at LSU Health Sciences Center New Orleans, has found that the ability of a protein made by a gene called FUS to bind to RNA is essential to the development of Amyotrophic Lateral Sclerosis (ALS). This discovery identifies a possible therapeutic target for the fatal neurological disease.

20 Dec 2012

Link made between muscular dystrophy and defective nerve wiring

Working with mice, Johns Hopkins scientists have discovered that a particular protein helps nerve cells extend themselves along the spinal cord during mammalian development. Their results shed light on the subset of muscular dystrophies that result from mutations in the gene that holds the code for the protein, called dystroglycan, and also show how the nerve and muscle failings of the degenerative diseases are related.

20 Dec 2012

AAV-based gene therapy cocktail may help extend lives of children with Canavan disease

Results of a clinical trial that began in 2001 show that a gene therapy cocktail conveyed into the brain by a molecular special delivery vehicle may help extend the lives of children with Canavan disease, a rare and fatal neurodegenerative disorder.

20 Dec 2012

Genomic technology revolutionizes gene discovery and disease understanding in autism

Genomic technology has revolutionized gene discovery and disease understanding in autism, according to an article published in the December 20 issue of the journal Neuron.

20 Dec 2012

Personalized rectal cancer therapy shows promise

Personalized chemotherapy for rectal cancer results in high rates of pathologic response, indicate the results of a pilot study.

19 Dec 2012

Metallic probe can detect fibrils from misfolded proteins in real time

Rice University scientists have discovered a new way to look inside living cells and see the insoluble fibrillar deposits associated with Parkinson's disease.

19 Dec 2012

Exercise clue to long QT syndrome prognosis

The size of reduction in heart rate immediately after exercise is associated with the presence of arrhythmias in patients with long QT syndrome type 1, report researchers.

18 Dec 2012

CNIO creates 2 new databases to study the human genome

Scientists from the Structural Computational Biology Group at the Spanish National Cancer Research Centre (CNIO), led by Alfonso Valencia, together with French and American researchers, have published recently two articles in the journal Nucleic Acid Research (NAR) that introduce two new databases for studying the human genome.

18 Dec 2012

Researchers identify possible heredity mechanism that predisposes children to ALL

Researchers at the Sainte-Justine University Hospital Center and the University of Montreal have found a possible heredity mechanism that predisposes children to acute lymphoblastic leukemia (ALL), the most common type of blood cancer in children. According to their findings published in Genome Research, the presence of a genetic defect in the egg or sperm from which children having ALL arise may be a prerequisite for the disease to develop.

17 Dec 2012

Maryland researchers launch groundbreaking study into spread of drug-resistant malaria in Burma

University of Maryland School of Medicine researchers have launched groundbreaking research into the spread of potentially deadly drug-resistant malaria in the developing Southeast Asian nation of Myanmar, also known as Burma.

17 Dec 2012

Human nociception genes mapped out

Researchers have uncovered a “network map” of genes that are involved in pain perception, which they say may help identify new analgesic drugs.

17 Dec 2012

Loading up on snack foods may increase cancer risk in individuals with Lynch syndrome

A new analysis has found that loading up on snack foods may increase cancer risk in individuals with an inborn susceptibility to colorectal and other cancers. Published early online in CANCER, a peer-reviewed journal of the American Cancer Society, the study suggests that an eating pattern low in snack foods could help these individuals-who have a condition called Lynch syndrome-lower their risk.

17 Dec 2012

Mutation News and Research

Trovagene adds Duke University Health System to worldwide licensees of NPM1 marker for AML

Researchers reveal critical role of BRCA1 gene in maintenance of hair follicle stem cells

Cancer-associated inflammation boosts ADAR1 enzyme activity

BRCA testing impact on ovarian cancer prevention revealed

Autism genome not shy about tinkering with important genes

Novel virus-based gene therapy holds promise for Canavan disease

New technique may prevent inheritance of mitochondrial diseases in children

Two recent experimental treatments improve visual function in mouse models of retinitis pigmentosa

FUS RNA binding ability essential for development of Amyotrophic Lateral Sclerosis

Link made between muscular dystrophy and defective nerve wiring

AAV-based gene therapy cocktail may help extend lives of children with Canavan disease

Genomic technology revolutionizes gene discovery and disease understanding in autism

Personalized rectal cancer therapy shows promise

Metallic probe can detect fibrils from misfolded proteins in real time

Exercise clue to long QT syndrome prognosis

CNIO creates 2 new databases to study the human genome

Researchers identify possible heredity mechanism that predisposes children to ALL

Maryland researchers launch groundbreaking study into spread of drug-resistant malaria in Burma

Human nociception genes mapped out

Loading up on snack foods may increase cancer risk in individuals with Lynch syndrome

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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