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Illumina launches new kits for targeted resequencing studies

Illumina, Inc. today introduced Nextera Exome and Custom Enrichment kits, the Company's latest targeted resequencing solutions offering sample preparation and enrichment in a single, integrated workflow.

From Illumina, Inc. 17 Jul 2012

Researchers show how aggressive form of multiple myeloma resists chemotherapy

Researchers at Washington University School of Medicine in St. Louis have shown how an aggressive form of multiple myeloma resists chemotherapy.

3 Jul 2012

Researchers discover new gene mutations associated with megalencephaly

A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly.

30 Jun 2012

Scientists discover genetic basis for CLOVES syndrome

Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

1 Jun 2012

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

Rare DNA variations may be responsible for differences in susceptibility to common disorders

One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the population explosion of the past few thousand years, medical geneticists and evolutionary biologists report in the May 17 advanced online edition of Science.

19 May 2012

New technique reveals another piece of spectrum's genetic architecture

There is little argument among experts that autism spectrum disorders (ASD), complex developmental disabilities that vary widely in their severity, are caused by both genetic and environmental factors. Advances in genome sequencing now permit scientists to uncover specific mutations in DNA that are associated with ASD at unprecedented resolution. Such data are vital to understanding the genetic basis of the disorder.

6 Apr 2012

Gene mutations, age of parents and autism

New research shows that several gene mutations sharply increase the chances that a child will develop autism spectrum disorders. The researchers have found further evidence that the risk increases with the age of the parents, particularly in fathers over age 35.

5 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

Fathers more likely to transmit spontaneous mutations to children with ASDs

Researchers have turned up a new clue to the workings of a possible environmental factor in autism spectrum disorders (ASDs): fathers were four times more likely than mothers to transmit tiny, spontaneous mutations to their children with the disorders. Moreover, the number of such transmitted genetic glitches increased with paternal age. The discovery may help to explain earlier evidence linking autism risk to older fathers.

5 Apr 2012

RNA binding motif protein 20 regulates titin splicing

Cardiomyopathy comprises a deterioration of the heart muscle that affects the organ's ability to efficiently pump blood through the body. Previously researchers have tied forms of the disease to the alternative splicing of titin, a giant protein that determines the structure and biomechanical properties of the heart, but the molecular mechanism remained unknown.

2 Apr 2012

New technique can sensitize cancer cells to radiation

Researchers at Winship Cancer Institute are developing a technique to remove cancer cells' defenses against radiation.

16 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

Tasmanian devil cancer genome mapped

Researchers, including those from Wellcome Trust Sanger Institute near Cambridge, have sequenced the genome of a facial cancer that is threatening the existence of the Tasmanian devil.

21 Feb 2012

Scientists discover clues to the pancreatic cysts' possible origins

Scientists at Johns Hopkins have surveyed the DNA in four common types of pancreatic cysts, and have determined that each type bears a distinct pattern of gene mutations. Pancreatic cysts are present in about two percent of U.S. adults, and can, in some cases, require surgical removal and microscopic analysis to determine their type and likelihood of turning cancerous.

8 Dec 2011

Scientists discover new candidate gene for Dravet syndrome

Dravet syndrome is a severe genetic epilepsy that appears early in life. About 75 percent of cases can be attributed to mutations in the SCN1A gene encoding the sodium channel NaV1.1. The remaining patients with this syndrome are without a definitive molecular genetic diagnosis. Research presented today at the American Epilepsy Society's 65th Annual Meeting has found a non-SCN1A candidate gene and suggests that Dravet syndrome may be caused by any one of a number of yet unidentified genes.

5 Dec 2011

Roche NimbleGen, BGI develop Major Histocompatibility Complex region capture technology

Roche NimbleGen, Inc. and BGI, the world's largest genomic organization, announced that they have developed a Major Histocompatibility Complex (MHC) region capture technology based on NimbleGen SeqCap EZ Choice Library, a revolutionary process for the enrichment of the MHC region.

28 Nov 2011

Comprehensive ADMESeq Research Screening Panel launched

RainDance Technologies, Inc., the Digital Biology Company, and Ambry Genetics, today announced the launch of a comprehensive targeted sequencing panel to screen genes involved with drug absorption, distribution, metabolism, and excretion (ADME) research. The ADMESeq Research Screening Panel enables researchers to simultaneously interrogate 242 known pharmacogenetic genes using next-generation sequencing (NGS) systems.

24 Oct 2011

Nature publishes Sangamo's gene correction strategy for A1AT deficiency

Sangamo BioSciences, Inc. (Nasdaq: SGMO) announced the publication of a preclinical study demonstrating highly specific, functional correction of the alpha 1-antitrypsin (A1AT) gene defect in patient-derived induced pluripotent stem cells (iPSCs) using zinc finger nucleases.

14 Oct 2011

Scientisits uncover evidence of powerful new cancer genetic networks

In findings with major implications for the genetics of cancer and human health, researchers at Beth Israel Deaconess Medical Center (BIDMC) and two other science teams in New York City and Rome have uncovered evidence of powerful new genetic networks and showed how it may work to drive cancer and normal development.

14 Oct 2011