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Researchers unlock secret behind the activation of Ras proteins

A breakthrough discovery into how living cells process and respond to chemical information could help advance the development of treatments for a large number of cancers and other cellular disorders that have been resistant to therapy.

4 Jul 2014

Thyroxine may overcome mutated thyroid hormone receptor effects

Patients with a mutation in the thyroid hormone receptor α gene that affects both the thyroid hormone receptor α1 and α2 protein variants have similar characteristics to patients with mutations affecting only the α1 variant, report researchers.

3 Jul 2014

Researchers break new ground in understanding what causes autism

In a collaboration involving 13 institutions around the world, researchers have broken new ground in understanding what causes autism. The results are being published in Cell magazine July 3, 2014: "Disruptive CHD8 Mutations Define a Subtype of Autism in Early Development."

3 Jul 2014

genOway to provide EUCOMM conditional knockout mouse models to study human diseases

genOway, the biotechnology company dedicated to the development of genetically modified animal models, the Wellcome Trust Sanger Institute (UK) and Helmholtz Zentrum München (Germany), members of the EUCOMM Program (European Conditional Mouse Mutagenesis Program) and its successor program EUCOMMTOOLS (EUCOMM: Tools for functional annotation of the mouse genome) announce today the signing of a license enabling genOway to provide industry scientists with conditional knockout (KO) models developed by EUCOMM.

3 Jul 2014

Highmark, Horizon issued positive coverage policies for Afirma Gene Expression Classifier

Veracyte, Inc., a molecular diagnostics company pioneering the field of molecular cytology, today announced that two Blue Cross Blue Shield–affiliated organizations, Highmark Inc. and Horizon Blue Cross Blue Shield of New Jersey, have issued positive coverage policies for the company's Afirma Gene Expression Classifier (GEC).

3 Jul 2014

Persons with reduced levels of TREM2 protein at greater risk for neurodegenerative diseases

Persons with reduced levels of the TREM2 protein could be at greater risk of developing neurodegenerative diseases such as Alzheimer's disease or frontotemporal dementia, according to an international study which included the participation of the Universitat Autònoma de Barcelona and the Sant Pau Biomedical Research Institute.

3 Jul 2014

Researchers identify genetic mutation that may cause parkinsonism in young people

Researchers at the University of Copenhagen and the Copenhagen University Hospital have identified a particular genetic mutation that may cause parkinsonism in young people. The mutation interferes with the brain's transport of the important signal substance dopamine and may also plays a role in mental diseases, e.g. ADHD.

3 Jul 2014

Lung cancer patients could benefit from new 'QTA' technique

Lung cancer patients could receive more precise treatment, and their progress could be better tracked, using a new high-tech method of non-invasive medical imaging analysis, according to a study published today by the journal PLOS ONE.

3 Jul 2014

Exome sequencing improves diagnosis of mitochondrial disease

Use of exome sequencing improved the ability to identify the underlying gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes (enzymes that are involved in basic energy production), according to a study in the July 2 issue of JAMA.

2 Jul 2014

UCLA receives $7.2 million grant to develop ways to diagnose rare genetic disorders

The David Geffen School of Medicine at UCLA is one of six institutions nationwide chosen by the National Institutes of Health to join their effort in tackling the most difficult-to-solve medical cases and develop ways to diagnose rare genetic disorders.

1 Jul 2014

Prophage autologous cancer vaccine extends survival in patients with newly diagnosed GBM

Agenus Inc., announced final results from a single-arm, multi-institutional, open-label, Phase 2 study showing that patients with newly diagnosed glioblastoma multiforme (GBM) who received Agenus' Prophage autologous cancer vaccine added to the standard of care treatment, lived nearly twice as long as expected.

1 Jul 2014

New approach may help develop more effective immunotherapy for metastatic melanoma

A new approach demonstrated that the recognition of unique cancer mutations appeared to be responsible for complete cancer regressions in two metastatic melanoma patients treated with a type of immunotherapy called adoptive T-cell therapy.

1 Jul 2014

Bacteria can survive under antibiotic exposure by developing a biological timer

Hebrew University of Jerusalem researchers showed that when exposed to repeated cycles of antibiotics, bacteria evolved a new adaptation by remaining dormant for the treatment period. The results show for the first time that bacteria can develop a biological timer to survive under antibiotic exposure.

30 Jun 2014

Amyotrophic lateral sclerosis in veterans: an interview with Milan Michael Karol, The Robert Packard Center for ALS Research at Johns Hopkins

ALS stands for Amyotrophic Lateral Sclerosis, better known as “Lou Gehrig’s Disease”. It is a progressive neurodegenerative disease characterized by the death of motor neurons in the brain and spinal cord.

30 Jun 2014

UK's TSB provides £347,000 for project to optimise gene library assembly technology

Today, Monday 30th June, 2014, Isogenica, Cambridge UK and Imperial College London secure funding from the Technology Strategy Board (TSB), the UK's innovation agency, for a £347,000 project to optimise a gene library assembly technology for potential use in synthetic biology.

30 Jun 2014

Age of sperm donor does not affect outcome in terms of live birth

Despite emerging evidence of a decline in sperm quality with increasing age, an analysis of every first fertility treatment cycle performed in the UK using sperm donation shows that outcome in terms of live birth is not affected by the age of the sperm donor.

30 Jun 2014

Study of mutations in cell's DNA help trace its life history

Researchers have developed new methods to trace the life history of individual cells back to their origins in the fertilised egg. By looking at the copy of the human genome present in healthy cells, they were able to build a picture of each cell's development from the early embryo on its journey to become part of an adult organ.

30 Jun 2014

patients with KRAS wild-type MCRC can benefit from Cetuximab Or Bevacizumab With Combi Chemo Equivalent For patients with KRAS wild-type MCRC

For patients with KRAS wild-type untreated colorectal cancer, adding cetuximab or bevacizumab to combination chemotherapy offers equivalent survival, researchers said at the ESMO 16th World Congress on Gastrointestinal Cancer in Barcelona.

30 Jun 2014

Single gene defines difference between aggressive and non-aggressive forms of thymoma

For a rare form of cancer called thymoma, researchers have discovered a single gene defining the difference between a fast-growing tumor requiring aggressive treatment and a slow-growing tumor that doesn't require extensive therapy.

30 Jun 2014

Viewpoints: Abortion rights buffer; coming 'freakout' on health law; repercussions of malaria prevention

A Unanimous Supreme Court: Abortion Rights Lose A Buffer Yet on Thursday the Supreme Court, in McCullen v. Coakley, struck down that law for violating the First Amendment.

28 Jun 2014

Mutation News and Research

Researchers unlock secret behind the activation of Ras proteins

Thyroxine may overcome mutated thyroid hormone receptor effects

Researchers break new ground in understanding what causes autism

genOway to provide EUCOMM conditional knockout mouse models to study human diseases

Highmark, Horizon issued positive coverage policies for Afirma Gene Expression Classifier

Persons with reduced levels of TREM2 protein at greater risk for neurodegenerative diseases

Researchers identify genetic mutation that may cause parkinsonism in young people

Lung cancer patients could benefit from new 'QTA' technique

Exome sequencing improves diagnosis of mitochondrial disease

UCLA receives $7.2 million grant to develop ways to diagnose rare genetic disorders

Prophage autologous cancer vaccine extends survival in patients with newly diagnosed GBM

New approach may help develop more effective immunotherapy for metastatic melanoma

Bacteria can survive under antibiotic exposure by developing a biological timer

Amyotrophic lateral sclerosis in veterans: an interview with Milan Michael Karol, The Robert Packard Center for ALS Research at Johns Hopkins

UK's TSB provides £347,000 for project to optimise gene library assembly technology

Age of sperm donor does not affect outcome in terms of live birth

Study of mutations in cell's DNA help trace its life history

patients with KRAS wild-type MCRC can benefit from Cetuximab Or Bevacizumab With Combi Chemo Equivalent For patients with KRAS wild-type MCRC

Single gene defines difference between aggressive and non-aggressive forms of thymoma

Viewpoints: Abortion rights buffer; coming 'freakout' on health law; repercussions of malaria prevention

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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