Mutation News and Research

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Penn researchers develop new mathematical model to estimate mutation rates in the human genome

It turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania in an advanced online study published this week in Nature Genetics.

22 Feb 2016

New article describes recent efforts made by researchers to classify bladder cancers

The ability to map the human genome has transformed how scientists and researchers classify various cancers. In the past, cancer cells were examined through a microscope and their appearance, often enhanced with dyes or other agents, was used to categorize the type of cancer.

22 Feb 2016

New study focuses on safety of using induced pluripotent stem cells in patients

A new study led by scientists at The Scripps Research Institute and the J. Craig Venter Institute shows that the act of creating pluripotent stem cells for clinical use is unlikely to pass on cancer-causing mutations to patients.

22 Feb 2016

Novartis receives FDA Breakthrough Therapy designation for PKC412 (midostaurin)

Novartis announced today that the United States Food and Drug Administration has granted Breakthrough Therapy designation to PKC412 (midostaurin). PKC412 (midostaurin) is an investigational treatment for adults with newly-diagnosed AML who are FLT3 mutation-positive, as detected by an FDA-approved test, and who are eligible to receive standard induction and consolidation chemotherapy.

19 Feb 2016

Researchers examine molecular profile of HPV-positive oropharyngeal squamous cell carcinoma

Throat cancer patients exposed to both human papillomavirus (HPV) and tobacco smoke demonstrate a pattern of mutations along several key cancer genes, according to research presented today at the 2016 Multidisciplinary Head and Neck Cancer Symposium.

19 Feb 2016

Study provides new insights into Retigabine drug

A study published ahead of print in the The Journal of General Physiology has revealed new insights into Retigabine, a known pharmacological treatment for epilepsy.

19 Feb 2016

Stem cell research reveals how Parkinson’s spreads from cell to cell

Stem cell research published today offers up new clues as to how Parkinson’s spreads from cell to cell, a process which has evaded researchers for decades.

19 Feb 2016

CHLA, Thermo Fisher Scientific agree to develop NGS-based panel for pediatric cancer research

Children's Hospital Los Angeles and Thermo Fisher Scientific have agreed to develop a next-generation sequencing (NGS)-based panel designed specifically for pediatric cancer research. The assay would be CHLA's first NGS panel designed to target biomarkers associated with childhood cancers.

19 Feb 2016

Neuroscientists identify specific enzyme that plays critical role in spinal muscular atrophy

Neuroscientists have discovered a specific enzyme that plays a critical role in spinal muscular atrophy, and that suppressing this enzyme's activity, could markedly reduce the disease's severity and improve patients' lifestyles.

19 Feb 2016

New method could help scientists better predict disease-causing mutations in people's genes

Two researchers at the University of Tennessee, Knoxville, have developed a method that could help clinicians and scientists better predict which mutations in people's genes could cause a disease and which would remain dormant.

18 Feb 2016

Revealing dynamic protein complexes with NMR: an interview with Elisar Barbar

Most proteins are involved in interactions with one or a few functional ligands, but some proteins, like light chain 8 (LC8), have numerous binding partners. LC8 interacts with more than 100 functionally different proteins, from viral proteins to motor proteins to proteins involved in cell division.

From Bruker BioSpin Division 18 Feb 2016

Genetic test use rises in young US breast cancer patients

BRCA testing is becoming more common in women diagnosed with breast cancer by the age of 40 years in the USA, research shows, with concerns about genetic risk influencing surgical decisions.

18 Feb 2016

African Americans with common genetic variants at increased risk for blood clots

New research published online today in Blood, the Journal of the American Society of Hematology (ASH), identifies common genetic variants predominantly found in African Americans that double their risk for blood clots.

18 Feb 2016

Caltech researchers identify gene that causes severe insomnia when overactivated

Caltech biologists have performed the first large-scale screening in a vertebrate animal for genes that regulate sleep, and have identified a gene that when overactivated causes severe insomnia. Expression of the gene, neuromedin U (Nmu), also seems to serve as nature's stimulant--fish lacking the gene take longer to wake up in the morning and are less active during the day.

18 Feb 2016

Vascular Occlusion Risk Reviewed For CML New-Generation TKIs

A meta-analysis highlights the significantly increased risk of vascular occlusive events in patients with chronic myeloid leukaemia using some new-generation BCR-ABL tyrosine kinase inhibitors compared with use of imatinib.

17 Feb 2016

Mtss1 'tumour suppressor' for CML

The metastasis suppressor 1 protein acts a tumour suppressor in chronic myeloid leukaemia stem cells, reveals research published in Leukemia.

17 Feb 2016

Researchers reveal how brain-specific microRNA plays key role in causing abnormal brain development

Autism Spectrum Disorders (ASDs) are a group of highly inheritable behavioural disorders that pose major personal and public health concerns. Patients with ASDs have mild to severe communication difficulties, repetitive behaviour and social challenges. Such disorders significantly challenge an individual's ability to conduct daily activities and function normally in society. Currently there are very few medication options that effectively treat ASDs.

17 Feb 2016

Mutation News and Research

Penn researchers develop new mathematical model to estimate mutation rates in the human genome

New article describes recent efforts made by researchers to classify bladder cancers

New study focuses on safety of using induced pluripotent stem cells in patients

Novartis receives FDA Breakthrough Therapy designation for PKC412 (midostaurin)

Researchers examine molecular profile of HPV-positive oropharyngeal squamous cell carcinoma

Study provides new insights into Retigabine drug

Stem cell research reveals how Parkinson’s spreads from cell to cell

CHLA, Thermo Fisher Scientific agree to develop NGS-based panel for pediatric cancer research

Neuroscientists identify specific enzyme that plays critical role in spinal muscular atrophy

New method could help scientists better predict disease-causing mutations in people's genes

Revealing dynamic protein complexes with NMR: an interview with Elisar Barbar

Genetic test use rises in young US breast cancer patients

African Americans with common genetic variants at increased risk for blood clots

Caltech researchers identify gene that causes severe insomnia when overactivated

Vascular Occlusion Risk Reviewed For CML New-Generation TKIs

Mtss1 'tumour suppressor' for CML

Researchers reveal how brain-specific microRNA plays key role in causing abnormal brain development

Cleaver Scientific to Showcase Electrophoresis Portfolio at Arablab 2016

Small chemical change to existing antibacterial drug may result in better treatment for TB

Synthetic RNA and DNA could reverse protein deficiency that causes Friedreich's ataxia

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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