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UCLA geneticists identify mutation responsible for IMAGe syndrome

UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.

28 May 2012

ABL receives CE-IVD approval for DeepChek and ViroScore Suite clinical genotyping solutions

Advanced Biological Laboratories (ABL) announced today that DeepChek and ViroScore Suite clinical genotyping solutions are now CE-IVD (In Vitro Diagnostics) approved for commercial use in Europe and other countries that recognise CE certification.

28 May 2012

Researchers identify novel base modification in RNA

Over the past decade, research in the field of epigenetics has revealed that chemically modified bases are abundant components of the human genome and has forced us to abandon the notion we've had since high school genetics that DNA consists of only four bases.

18 May 2012

LifeCodexx completes PraenaTest clinical study on trisomy 21

LifeCodexx today announced the successful completion of the clinical validation study of its noninvasive test method for the detection of fetal trisomy 21 from maternal blood using Next Generation sequencing.

2 May 2012

IMPAKT 2012 breast cancer conference to focus on four major areas

"Basic science and clinical medicine move at different pace because they follow different paths. Both however aim at improving strategies to manage cancer patients. We need to efficiently translate the good things from basic science and efficiently implement them in the clinic."

26 Apr 2012

Biologists decipher novel functions of metal-binding molecule nicotianamine

In order to survive, plants should take up neither too many nor too few minerals from the soil. New insights into how they operate this critical balance have now been published by biologists at the Ruhr-Universit-t in a series of three papers in the journal The Plant Cell. The researchers discovered novel functions of the metal-binding molecule nicotianamine.

16 Apr 2012

CHD8, SNC2A and KATNAL2 gene mutations lead to ASDs

Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. All three studies include lead investigators of the Autism Sequencing Consortium.

5 Apr 2012

MMRF announces unique oncology research partnership

The Multiple Myeloma Research Foundation (MMRF) today announced a unique oncology research partnership. This multi-year agreement involves several partners including the Translational Genomics Research Institute (TGen), Spectrum Health, and the Van Andel Research Institute.

3 Apr 2012

RainDance introduces new panel for cancer mutation screening

RainDance Technologies, Inc., the Digital Biology company, today announced the worldwide availability of its new panel for cancer mutation screening research using any next-generation sequencing (NGS) system.

2 Apr 2012

TGen to present TNBC study at AACR 2012 annual meeting

Because cases of Triple-Negative Breast Cancer (TNBC) are so genetically different, whole-genome sequencing is needed to detect the subtle molecular differences that might point to specific treatments for individual patients.

2 Apr 2012

Clinical findings from Transgenomic's NuclearMitome Test study on nuclear mitochondrial disorders

Transgenomic, Inc. today announced that Jeana DaRe, Ph.D., Assistant CLIA Laboratory Director at Transgenomic, presented clinical findings from patients tested for nuclear mitochondrial disorders using Transgenomic's NuclearMitome Test on Thursday, March 29, at the 2012 Annual Meeting of the American College of Medical Genetics (ACMG) in Charlotte, North Carolina.

31 Mar 2012

NanoString to launch 3 new products for nCounter Analysis System at AACR 2012

NanoString Technologies, Inc., a privately held provider of life science tools for translational research and developer of molecular diagnostics, today announced that it will launch three new products for the nCounter Analysis System at the American Association of Cancer Research (AACR) Annual Meeting 2012, March 31-April 4, in Chicago, Ill.

From NanoString Technologies 31 Mar 2012

State of Texas awards Asuragen $6.8M to pursue Next Generation Sequencing applications

Asuragen, Inc. announced today that the Company received notice of a $6.8 million commercialization award to pursue Next Generation Sequencing (NGS) applications from the State of Texas through the Cancer Prevention and Research Institute of Texas ("CPRIT").

31 Mar 2012

MO BIO introduces PowerMicrobiome RNA Isolation Kit

MO BIO Laboratories, Inc., the leader in soil, water and microbial nucleic acid purification, announces the launch of the PowerMicrobiome RNA Isolation Kit, the first kit available that is optimized for stool and gut material and provides high quality RNA for use in characterizing the human microbiome.

29 Mar 2012

Greenwood launches Syndromic Autism 62-Gene Panel

RainDance Technologies, Inc., the Digital Biology Company, today announced that Greenwood Genetic Center has commercially launched its Syndromic Autism 62-Gene Panel which was built for use on RainDance's picodroplet-based targeted sequencing platform.

29 Mar 2012

Researchers profile genetic changes in cancer with drug sensitivity

In the largest study of its kind, researchers have profiled genetic changes in cancer with drug sensitivity in order to develop a personalised approach to cancer treatments. The study is published in Nature on Thursday 29 March 2012.

29 Mar 2012

Ingenuity Variant Analysis and iReport selected for Weill Cornell sequencing core facility

Ingenuity Systems, a leading provider of information and analysis solutions for life science researchers, today announced that the Weill Cornell Medical College has chosen Ingenuity Variant Analysis and Ingenuity iReport for use in its sequencing core facility.

19 Mar 2012

New DNA-reading technology could lead to correct genetic diagnosis for muscle-wasting diseases

Scientists at The University of Nottingham have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic diagnosis for muscle-wasting diseases.

6 Mar 2012

Scientists identify genetic defect responsible for TAR Syndrome

Universitätsmedizin Berlin in collaboration with the Sanger Institute in Cambridge and other cooperation partners in Belgium, the Netherlands and France, were able to identify a genetic defect that is responsible for the development of TAR Syndrome, a congenital malformation of the skeleton and blood.

1 Mar 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