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Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai.

30 Jan 2017

Lund researchers map entire methylome in insulin-producing pancreatic islets

Throughout our lives, our genes are affected by the way we live. Diet, exercise, age and diseases create imprints that are stored in something called methylome.

30 Jan 2017

Johns Hopkins scientists reveal extra centrosomes can promote tumor formation in mice

When a cell is dividing, two identical structures, called centrosomes, move to opposite sides of the cell to help separate its chromosomes into the new cells.

28 Jan 2017

Single-molecule compounds may become basis for new antioxidant therapies

Treated particles of graphene derived from carbon nanotubes have demonstrated remarkable potential as life-saving antioxidants, but as small as they are, something even smaller had to be created to figure out why they work so well.

28 Jan 2017

New computer program helps discover 1000 new mutations in blood group genes

1000 new mutations in the blood group genes: that is what physician and former programmer Mattias Möller found in his research study in which he developed new software and investigated blood group genes in 2504 people.

28 Jan 2017

Scientists identify key 'survival gene' that reduces mutation rates in mycobacteria

Scientists have discovered a key 'survival gene' that prevents strains of tuberculosis (TB) from mutating into drug-resistant 'superbugs'.

28 Jan 2017

Johns Hopkins researchers create mature cardiomyocytes in the laboratory from stem cells

Generating mature and viable heart muscle cells from human or other animal stem cells has proven difficult for biologists.

26 Jan 2017

Cancer cells proliferate by stealing energy from neighbouring cells, study finds

Researchers at the University of Oslo and Oslo University Hospital have discovered that cancer cells grow by stealing energy from neighbouring cells.

26 Jan 2017

Study suggests best sequence of therapies for brain metastases in EGFR mutant lung cancer patients

About 10 percent of lung cancers in the United States and as many as 40 percent in Asia are driven by mutations in the EGFR gene.

25 Jan 2017

Combination of broadly neutralizing antibodies can suppress virus in HIV-infected mice, study shows

Without antiretroviral drug treatment, the majority of people infected with HIV ultimately develop AIDS, as the virus changes and evolves beyond the body's ability to control it.

25 Jan 2017

BRCA1 gene required for survival of blood forming stem cells, UT Southwestern study finds

Researchers at from the Harold C. Simmons Comprehensive Cancer Center have found that the BRCA1 gene is required for the survival of blood forming stem cells, which could explain why patients with BRCA1 mutations do not have an elevated risk for leukemia.

25 Jan 2017

Scientists discover new way to inhibit growth of glioblastoma

Scientists have found a way to inhibit the growth of glioblastoma, a type of brain cancer with low survival rates, by targeting a protein that drives growth of brain tumors, according to research from the Peter O'Donnell Jr. Brain Institute and Harold C. Simmons Comprehensive Cancer Center.

25 Jan 2017

Scientists develop new method to accurately determine gene expression in single cells

At Baylor College of Medicine, scientists have developed a method that allows them to accurately determine the genes expressed in single cells.

25 Jan 2017

New drugs that target neighbour proteins may help halt cancer progression

Cancer is caused by an accumulation of genetic changes in a cell, that overcome the normal checks and balances leading to uncontrolled growth. A complex, interacting network of proteins controls all of a cell's processes, from metabolism to growth and division.

24 Jan 2017

Nicotine normalizes genetically-induced brain impairments linked to schizophrenia

A steady stream of nicotine normalizes genetically-induced impairments in brain activity associated with schizophrenia, according to new research involving the University of Colorado Boulder.

24 Jan 2017

Researchers investigate influence of surrounding tissue on formation and growth of tumor cells

Malignant melanoma is the fastest-growing type of cancer and the most fatal skin disease.

23 Jan 2017

Researchers discover mutation hotspots that act like backseat drivers for breast cancer development

Researchers at the Wellcome Trust Sanger Institute have discovered 'hotspots' of mutations in breast cancer genomes, where mutations thought to be inactive 'passengers' in the genome have now been shown to possibly drive further cancerous changes.

23 Jan 2017

Sapientia genome analysis software by Congenica could cut costs and save lives

Whole genome analysis (WGA) enables rapid diagnosis of rare disease, ensuring that an appropriate course of management and treatment can be administered, possibly within days for acute neonatal cases, cutting the cost of intensive care and potentially saving lives. Rapid diagnosis is one of the many benefits of using the Sapientia™ genome analysis and interpretation platform that Dr Nick Lench, Chief Operating Officer of Congenica, will be discussing at Precision Medicine World Conference (PMWC) 2017 on January 23rd at 3.15pm.

23 Jan 2017

Study provides scientific insight into metastatic patterns of EGFR mutated NSCLCs

The discovery of several different subtypes of Non Small Cell Lung Cancer (NSCLC), the most frequent form of lung cancer, has been a major breakthrough in the fight against the leading cause of cancer-related death worldwide.

20 Jan 2017

Study reveals mechanism for illness-induced sleepiness in humans and animals

It's well known that humans and other animals are fatigued and sleepy when sick, but it's a microscopic roundworm that's providing an explanation of how that occurs, according to a study from researchers at the Perelman School of Medicine at the University of Pennsylvania.

19 Jan 2017

Mutation News and Research

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

Lund researchers map entire methylome in insulin-producing pancreatic islets

Johns Hopkins scientists reveal extra centrosomes can promote tumor formation in mice

Single-molecule compounds may become basis for new antioxidant therapies

New computer program helps discover 1000 new mutations in blood group genes

Scientists identify key 'survival gene' that reduces mutation rates in mycobacteria

Johns Hopkins researchers create mature cardiomyocytes in the laboratory from stem cells

Cancer cells proliferate by stealing energy from neighbouring cells, study finds

Study suggests best sequence of therapies for brain metastases in EGFR mutant lung cancer patients

Combination of broadly neutralizing antibodies can suppress virus in HIV-infected mice, study shows

BRCA1 gene required for survival of blood forming stem cells, UT Southwestern study finds

Scientists discover new way to inhibit growth of glioblastoma

Scientists develop new method to accurately determine gene expression in single cells

New drugs that target neighbour proteins may help halt cancer progression

Nicotine normalizes genetically-induced brain impairments linked to schizophrenia

Researchers investigate influence of surrounding tissue on formation and growth of tumor cells

Researchers discover mutation hotspots that act like backseat drivers for breast cancer development

Sapientia genome analysis software by Congenica could cut costs and save lives

Study provides scientific insight into metastatic patterns of EGFR mutated NSCLCs

Study reveals mechanism for illness-induced sleepiness in humans and animals

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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