Coding Region News and Research

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CSHL scientists discover new way to specifically target and kill cancer cells

Cancer cells grow fast. That's an essential characteristic of what makes them cancer cells. They've crashed through all the cell-cycle checkpoints and are continuously growing and dividing, far outstripping our normal cells. To do this they need to speed up their metabolism.

1 Nov 2012

Researchers use baker's yeast to identify new therapies for Lou Gehrig's disease

Amyotrophic lateral sclerosis, also called Lou Gehrig's disease, is a devastatingly cruel neurodegenerative disorder that robs sufferers of the ability to move, speak and, finally, breathe.

29 Oct 2012

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

BGI Tech achieves whole exome sequencing analysis of total degraded DNA from FFPE samples

BGI Tech Solutions Co., Ltd., a subsidiary company of BGI, announced today that they have achieved whole exome sequencing analysis of total degraded DNA as low as 200 ng from formalin fixed paraffin embedded (FFPE) samples.

19 Sep 2012

Researchers discover small DNA sequence that drives GATA2 protein

The protein GATA2 is known as a "master regulator" of blood cell development. When a mutation occurs in the gene that makes GATA2, serious blood diseases such as acute myeloid leukemia can result.

11 Sep 2012

Sifting through the junk with ENCODE

The first large-scale results from the ENCylopedia Of DNA Elements Consortium have shed light on possible functions of large areas of the genome previously thought of as “junk DNA.”

10 Sep 2012

Researchers identify three genetic regions associated with primary biliary cirrhosis

Researchers have newly identified three genetic regions associated with primary biliary cirrhosis (PBC), the most common autoimmune liver disease, increasing the number of known regions associated with the disorder to 25.

10 Sep 2012

Scientists complete comprehensive map of genetic mutations linked to small cell lung cancers

Scientists have completed a comprehensive map of genetic mutations linked to an aggressive and lethal type of lung cancer.

6 Sep 2012

CSHL publishes genome-wide analysis of transcripts produced within human cells

Most people understand genes to be specific segments of DNA that determine traits or diseases that are inherited. Textbooks suggest that genes are copied into RNA molecules, which are then used as templates for making protein - the highly diverse set of molecules that act as building blocks and engines of our cells. The truth, it now appears, is not so simple.

6 Sep 2012

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