Genomic News and Research

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PGen study to examine impact of consumer genomics

As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. However, very little data has been gathered to understand the motivations and expectations of consumers of personal genomic services, the psychological and behavioral impact of these services, and the associated ethical, legal and social issues-until now.

5 Mar 2012

Call for Expression of Interest to attend personalised medicine conference

The Call for Expression of Interest to attend or present at the Conference on Personalised Medicine: Better Healthcare in Cyprus in June 2012 is now open. The deadline is 1 April 2012.

2 Mar 2012

ACTB and ACTG1 actin genes cause Baraitser-Winter syndrome

Scientists from Seattle Children's Research Institute and the University of Washington, in collaboration with the Genomic Disorders Group Nijmegen in the Netherlands, have identified two new genes that cause Baraitser-Winter syndrome, a rare brain malformation that is characterized by droopy eyelids and intellectual disabilities.

1 Mar 2012

Tenfold increase in OARnet network bandwidth speeds will boost medical research

Following his State of the State announcement of a tenfold boost to OARnet's statewide network bandwidth, Governor John R. Kasich joined medical researchers from across the state on Feb. 27 in a video teleconference to discuss how the faster network speeds will help enhance innovation.

29 Feb 2012

Aurora-A protein blocks proper functioning of tumor-suppressor p73

A protein abundantly found in treatment-resistant cancers holds an important tumor-suppressor out of the cell nucleus, where it would normally detect DNA damage and force defective cells to kill themselves, a team of scientists reports in the current Cancer Cell.

28 Feb 2012

EMBL-EBI launches Enzyme Portal

The European Molecular Biology Laboratory's European Bioinformatics Institute has launched the Enzyme Portal, a freely available resource for people who are interested in the biology of enzymes and proteins with enzymatic activity.

28 Feb 2012

Study finds genetic variants that elevate risk for skin lesions in people exposed to arsenic

One of the first large-scale genomic studies conducted in a developing country has discovered genetic variants that elevate the risk for skin lesions in people chronically exposed to arsenic. Genetic changes found near the enzyme for metabolizing the chemical into a less toxic form can significantly increase an individual's risk for developing arsenic-related disease.

26 Feb 2012

UA researchers identify the likely culprit of epilepsy

Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction. It was the time of the Human Genome Project, and it had taken armies of sequencing robots working around the clock for almost a decade to unravel the complete sequence of the human genetic code - referred to as the genome - by churning out the DNA alphabet letter by letter.

24 Feb 2012

DIRECT project to focus on stratification of patients with type 2 diabetes

Gathering experts from 21 European academic institutions and key players of the pharmaceutical industry, the DIRECT project (DIabetes REsearch for patient straTification) will focus on the stratification of patients with type 2 diabetes in order to develop personalized treatments, that would therefore be more efficient.

23 Feb 2012

DANSR/FORTE assay more effective in diagnosing Edwards and Down syndrome

Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome.

22 Feb 2012

Genomic instability allows malignant cells to acquire more deadly characteristics

Genomic instability caused by an erosion of the protective caps on chromosomes, followed by activation of an enzyme that reinforces those aps, allows malignant cells to evade destruction and acquire more deadly characteristics, researchers report in an Online Now article at the journal Cell.

21 Feb 2012

Telomerase reactivation in malignant cells after genomic instability causes cancer progression

Inhibiting telomerase, an enzyme that rescues malignant cells from destruction by extending the protective caps on the ends of chromosomes, kills tumor cells but also triggers resistance pathways that allow cancer to survive and spread, scientists report in the Feb. 17 issue of Cell.

21 Feb 2012

Evolution of cancer genome to be discussed at 2012 AAAS annual meeting

Professor Mike Stratton, Director of the Wellcome Trust Sanger Institute, will speak about 'the evolution of the cancer genome' at the prestigious 2012 American Association for the Advancement of Science annual meeting. The AAAS annual meeting is one of the world's most widely recognized science events.

19 Feb 2012

Study reveals new guiding principles for cancer genomics

That our chromosomes can break and reshuffle pieces of themselves is nothing new; scientists have recognized this for decades, especially in cancer cells. The rules for where chromosomes are likely to break and how the broken pieces come together are only just now starting to come into view.

17 Feb 2012

Study describes how multiple RNA binding proteins cooperatively control genetic splicing code

Understanding how RNA binding proteins control the genetic splicing code is fundamental to human biology and disease - much like editing film can change a movie scene. Abnormal variations in splicing are often implicated in cancer and genetic neurodegenerative disorders.

17 Feb 2012

Researchers obtain sequence of 168 complete genomes of fruit fly

Discovering the relation between genetic variation and observable characteristics of individuals belonging to a species, such as a person's height or the manifestation of a hereditary disease is one of today's challenges in biology. Until now only a small part of the variation of these traits - which biologists name phenotypes - were attributed to genetic variations.

17 Feb 2012

China's SFDA approves Affymetrix GeneChip System 3000Dx v.2

Affymetrix, Inc. today announced that its GeneChip System 3000Dx v.2 (GCS 3000Dx v.2) has been approved by China's State Food and Drug Administration (SFDA) for in vitro diagnostic use.

16 Feb 2012

Oxford Gene Technology develops optimised rare disease sequencing and analysis service

Oxford Gene Technology (OGT), a provider of innovative clinical genetics and diagnostic solutions to advance molecular medicine, has extended its Genefficiency™ Sequencing Service to provide a dedicated service for investigating rare diseases. The specifically optimised version of the service will help investigators and clinicians identify causative mutations quickly, easily and without the need for in-house technical or bioinformatics expertise.

From Oxford Gene Technology 16 Feb 2012

mRNA sequencing reveals transcriptomic landscape of breast cancer

GW Cancer Research Team in the Department of Biochemistry and Molecular Biology, in the School of Medicine and Health Sciences, published a study that is the first of its kind to use mRNA sequencing to look at the expression of genome, at a unprecedented resolution at the current time, in three types of breast cancer.

15 Feb 2012

Gene sequencing could identify genetic variants of lung cancer and colorectal cancer

Foundation Medicine Inc., a molecular information company that brings comprehensive cancer gene analysis to routine clinical care, and Dana-Farber Cancer Institute have come up with the results from their collaborative next-generation sequencing (NGS) study to assay cancer-relevant genes in 24 non-small cell lung cancer (NSCLC) and 40 colorectal cancer (CRC) cases.

14 Feb 2012