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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.

18 Nov 2013

Study uncovers novel mechanism that helps govern regulated gene expression

A study led by researchers at the University of California, San Diego School of Medicine shines a new light on molecular tools our cells use to govern regulated gene expression. The study was published on line in advance of print November 10 in the journal Nature Structural and Molecular Biology.

13 Nov 2013

Scientists use new technology to study whole genome to find the cause of genetic disease

For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as "junk DNA".

11 Nov 2013

Scientists uncover new mechanism through which gene expression is regulated

A new study by Weill Cornell Medical College scientists reveals a mechanism through which the expression of genes is controlled -- a finding that highlights genetic mutations that can impair the timing of gene expression.

31 Oct 2013

New approach could help identify specific gene mutations linked to increased disease risk

Researchers at the University of California, San Diego School of Medicine have developed a new way to parse and understand how special proteins called "master regulators" read the genome, and consequently turn genes on and off.

13 Oct 2013

Study indicates that RNA translation is dictated by translational hotspots

Protein synthesis in the extensions of nerve cells, called dendrites, underlies long-term memory formation in the brain, among other functions. "Thousands of messenger RNAs reside in dendrites, yet the dynamics of how multiple dendrite messenger RNAs translate into their final proteins remain elusive," says James Eberwine, PhD, professor of Pharmacology, Perelman School of Medicine at the University of Pennsylvania, and co-director of the Penn Genome Frontiers Institute.

27 Sep 2013

Three research groups awarded NIH grants to develop framework for evaluating genetic variants

Three grants totaling more than $25 million over four years will help three research groups to develop authoritative information on the millions of genomic variants relevant to human disease and the hundreds that are expected to be useful for clinical practice. The awards are from the National Institutes of Health.

26 Sep 2013

Researchers discover inherited gene mutation linked to childhood leukemia

Researchers have discovered the first inherited gene mutation linked exclusively to acute lymphoblastic leukemia occurring in multiple relatives in individual families. The discovery of the PAX5 gene mutation was led by St. Jude Children's Research Hospital and others. The work appears in the current advance online edition of the scientific journal Nature Genetics.

11 Sep 2013

NIH awards nearly $14M grants to research on how genetic factors influence susceptibility to disease

Five research teams have received new four-year awards to study the genomics of disease susceptibility in ethnically diverse populations. The projects aim to unravel the subtle variations in genetic makeup among groups - including African-Americans, Asian-Americans, Hispanics and more - that may account for differences in risks for conditions such as high blood pressure and high blood lipids, in addition to common diseases such as cancer and heart disease.

7 Sep 2013

NIH Funds Minority Disease Susceptibility Studies

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6 Sep 2013

BTNL2 gene mutation that impacts immune function increases risk of prostate cancer

A team of researchers led by Janet Stanford, Ph.D., of Fred Hutchinson Cancer Research Center has discovered that mutations in the gene BTNL2, which encodes a protein involved in regulating T-cell proliferation and cytokine production - both of which impact immune function - increase the risk of developing prostate cancer.

30 Aug 2013

Researchers identify mutation in CNGB1 gene causing PRA in Phalene and Papillon

Professor Hannes Lohi's research group at the University of Helsinki and Folkh-lsan Research Center, Finland, has identified a mutation in CNGB1 gene, causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds.