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New set of genes can indicate improved survival after surgery for pancreatic cancer patients

A study by the Translational Genomics Research Institute and other major research institutes, found a new set of genes that can indicate improved survival after surgery for patients with pancreatic cancer. The study also showed that detection of circulating tumor DNA in the blood could provide an early indication of tumor recurrence.

21 Aug 2015

Researchers uncover genetic circuit involved in obesity

Like many other conditions, obesity is caused by an interplay between genetic and environmental factors. While efforts to combat the obesity epidemic will need to include changes in diet and exercise, insights into the genes involved may also help with prevention and treatment.

20 Aug 2015

Research: Critical aspects of human genome's regulatory program encoded by genomic sequence elements

Since the classical studies of Jacob and Monod in the early 1960s, it has been evident that genome sequences contain not only blueprints for genes and the proteins that they encode, but also the instructions for a coordinated regulatory program that governs when, where and to what extent these genes and proteins are expressed.

4 Aug 2015

GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease.

8 May 2015

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced the availability of Neurome, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations.

From Quest Diagnostics 10 Mar 2015

Researchers develop quality assurance tool for genome editing

A research team at Boston Children's Hospital's Program in Cellular and Molecular Medicine has developed a quality assurance tool for scientists using genome-editing technologies like the increasingly popular CRISPR. The assay, called high throughput genome translocation sequencing (HTGTS), rapidly gauges—for any given gene—these technologies' accuracy and their risk for causing potentially dangerous genomic collateral damage.

9 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

Study: Mutated ATRX gene may serve as much-needed biomarker for rare neuroendocrine tumors

A somatic mutation in the ATRX gene has recently been shown as a potential molecular marker for aggressive brain tumors, such as gliomas, neuroblastomas and pancreatic neuroendocrine tumors. Now, for the first time, researchers at Penn's Abramson Cancer Center have found that the same mutated gene may serve as a much-needed biomarker for the pheochromocytomas and paragangliomas (PCC/PGL) that become malignant.

21 Jan 2015

New computational technique reveals genetic roots of autism, cancers

In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?

22 Dec 2014

Baylor-led researchers identify gene linked to familial glioma

An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumors that appear in two or more members of the same family) providing new support that certain people may be genetically predisposed to the disease.

8 Dec 2014

Study provides insights into genetic underpinnings of childhood epilepsies

Technological advances in genetic analysis have uncovered changes in single genes that account for a surprising number of infantile and early-childhood epilepsies. Though some of the affected genes have been identified, the physical manifestations of these alterations remain largely uncharacterized.

7 Dec 2014

Researchers discover mitochondrial and nuclear tRNA-lookalikes in human genome

Transfer RNAs (tRNAs) are ancient workhorse molecules and part of the cellular process that creates the proteins, critical building blocks of life that keep a cell running smoothly.

9 Oct 2014

Deep sequencing technique opens up new possibilities for finding genetic causes for brain disorder

Not every cell in the body is the same genetically, and disease-causing mutations don't necessarily affect every cell—making these mutations easy to miss even with next-generation genomic sequencing.

21 Aug 2014

CNIOA researchers update number of human genes to 19,000

How nutrients are metabolised and how neurons communicate in the brain are just some of the messages coded by the 3 billion letters that make up the human genome.

4 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

Gene variant that increases risk of type 2 diabetes identified in Latino individuals

A genetic analysis of DNA samples of approximately 3,700 Mexican and U.S. Latino individuals identified a gene variant that was associated with a 5-fold increase in the prevalence of type 2 diabetes, findings that may have implications for screening in this population, according to a study in the June 11 issue of JAMA, a diabetes theme issue.

11 Jun 2014

Leica and Affymetrix launch fully automated RNA in situ hybridization assays

Affymetrix, Inc. (NASDAQ:AFFX) and Leica Biosystems announce the launch of Affymetrix' fully automated RNA in situ hybridization assays ViewRNATM eZ Assays on the Leica BOND RX staining platform.

8 May 2014

Researchers demonstrate accurate identification of amino acids

Some three billion base pairs make up the human genome-the floor plan of life. In 2003, the Human Genome Project announced the successful decryption of this code, a tour de force that continues to supply a stream of insights relevant to human health and disease.

7 Apr 2014

Restless legs syndrome alters expression of critical gene during fetal development of brain

In a study published online in Genome Research, researchers of the Helmholtz Zentrum München und the Technische Universität München have demonstrated that a common genetic variant associated with Restless Legs Syndrome (RLS) alters the expression of a critical gene during fetal development of the brain.

19 Mar 2014

Neurexin proteins play key role in formation of synaptic connections

Neuroscientists and bioengineers at Stanford are working together to solve a mystery: how does nature construct the different types of synapses that connect neurons -- the brain cells that monitor nerve impulses, control muscles and form thoughts.