Coding Region News and Research

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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.

19 Mar 2014

Patient with advanced bladder cancer shows complete response to everolimus and pazopanib drugs

A patient with advanced bladder cancer experienced a complete response for 14 months to the drug combination everolimus and pazopanib in a phase I trial, and genomic profiling of his tumor revealed two alterations that may have caused this exceptional response, according to a study published in Cancer Discovery, a journal of the American Association for Cancer Research.

13 Mar 2014

Supercomputer dramatically accelerates genome analysis

Although the time and cost of sequencing an entire human genome has plummeted, analyzing the resulting three billion base pairs of genetic information from a single genome can take many months.

20 Feb 2014

Study explores the role of DNA in predisposing individuals to diseases

A group of international researchers, led by a research fellow in the Harvard Medical School-affiliated Institute for Aging Research at Hebrew SeniorLife, published a paper today in Cell describing a study aimed at better understanding how inherited genetic differences, or variants, predispose certain individuals to develop diseases such as type 2 diabetes.

16 Jan 2014

Finland researchers identify mechanism that enhances prostate cancer proliferation, metastasis

A research group at Biocenter Oulu in Finland has identified a mechanism related to a transcription factor that binds much more strongly onto a particular SNP variant, thereby initiating a genetic programme which enhances prostate cancer proliferation and metastasis.

13 Jan 2014

Researchers complete genomic analysis of cervical cancer in two patient populations

Researchers from the Boston area, Mexico, and Norway have completed a comprehensive genomic analysis of cervical cancer in two patient populations. The study identified recurrent genetic mutations not previously found in cervical cancer, including at least one for which targeted treatments have been approved for other forms of cancer.

25 Dec 2013

Fluidigm announces universal sample prep workflow for single-cell DNA sequencing

Fluidigm Corporation today announced a universal sample prep workflow for single-cell DNA sequencing that runs on its C1TM Single-Cell Auto Prep System. This workflow streamlines targeted, whole exome and whole genome sequencing in heterogeneous cell populations and enables researchers to discover and screen somatic mutations, such as SNP, small indels, and translocations.

24 Dec 2013

Researchers uncover second rare genetic mutation linked to higher risk of Alzheimer's disease

A research team from The University of Nottingham has helped uncover a second rare genetic mutation which strongly increases the risk of Alzheimer's disease in later life.

13 Dec 2013

DNA tells the story of how ancient humans first came to the Americas

University of Illinois anthropology professor Ripan Malhi looks to DNA to tell the story of how ancient humans first came to the Americas and what happened to them once they were here.

18 Nov 2013

Close to 100 novel human gene regions that code for proteins may be linked to cancer

By using a new analysis method, researchers at Karolinska Institutet and Science for Life Laboratory (SciLifeLab) in Sweden have found close to one hundred novel human gene regions that code for proteins. A number of these regions are so-called pseudogenes, which may be linked to cancer.