Splicing News and Research

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TrovaGene acquires license to mutations of SF3B1 splicing factor in CLL

TrovaGene, Inc., a developer of trans-renal molecular diagnostics, today announced that it has obtained an exclusive worldwide license to mutations of the SF3B1 splicing factor, which have been shown to be associated with disease progression and chemotherapy response in patients suffering from chronic lymphocytic leukemia.

3 Jan 2012

Biologists develop radar to track ADAR's RNA editing activity in neurons

To track what they can't see, pilots look to the green glow of the radar screen. Now biologists monitoring gene expression, individual variation, and disease have a glowing green indicator of their own: Brown University biologists have developed a "radar" for tracking ADAR, a crucial enzyme for editing RNA in the nervous system.

26 Dec 2011

Scientists uncover critical genetic mutation in patients with MDS

Scientists have uncovered a critical genetic mutation in some patients with myelodysplastic syndromes - a group of blood cancers that can progress to a fatal form of leukemia.

16 Dec 2011

DNA sequencing identifies new altered genes that drive CLL

The most comprehensive search to date of DNA abnormalities in chronic lymphocytic leukemia (CLL) has unearthed several new altered genes that drive this common blood cancer, a finding that could potentially help doctors predict whether an individual patient's disease will progress rapidly or remain indolent for years, say scientists from Dana-Farber Cancer Institute and the Broad Institute.

13 Dec 2011

Researchers discover human genes that might contribute to ALS

Amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, is a universally fatal neurodegenerative disease. Mutations in two related proteins, TDP-43 and FUS, cause some forms of ALS. Specifically, these two proteins are RNA-binding proteins that connect to RNA to regulate the translation of proteins and other cellular functions such as RNA splicing and editing. In a new study, researchers at the Perelman School of Medicine at the University of Pennsylvania discovered additional human genes with properties similar to TDP-43 and FUS that might also contribute to ALS.

16 Nov 2011

Cancer cells maintain rapid proliferation due to PK-M2 enzyme

Cancer cells maintain their life-style of extremely rapid growth and proliferation thanks to an enzyme called PK-M2 (pyruvate kinase M2) that alters the cells' ability to metabolize glucose - a phenomenon known as the Warburg effect.

3 Nov 2011

Affymetrix commercializes 18 new array designs for whole-transcriptome analysis

Affymetrix, Inc. today announced commercialization of 18 new array designs for whole-transcriptome analysis of model and applied research organisms that will allow scientists to obtain a more complete gene expression view than traditional 3' biased arrays.

7 Oct 2011

Close link between SF3B1 mutation and specific feature of myelodysplastic syndromes

Geneticists have discovered that a gene involved in the modification of ribonucleic acid (RNA) is mutated in a significant proportion of people with a collection of blood cancers called myelodysplastic syndromes.

27 Sep 2011

Researchers identify frequent SF3B1 gene mutation in myelodysplasia

A genomic study of chronic blood cancer - a precursor to leukaemia - has discovered gene mutations that could enable diagnosis using only a blood test, avoiding the need for an invasive and painful bone marrow biopsy.

27 Sep 2011

New mouse brain atlas provides insight into how genes work in cerebral cortex

A new atlas of gene expression in the mouse brain provides insight into how genes work in the outer part of the brain called the cerebral cortex. In humans, the cerebral cortex is the largest part of the brain, and the region responsible for memory, sensory perception and language.

25 Aug 2011

Affymetrix announces commercialization of next-generation human transcriptome array

Affymetrix, Inc. today announced commercialization of the next-generation human transcriptome array demonstrated by Stanford University researchers to be superior to mRNA sequencing (RNA-Seq) in gene expression profiling studies.

8 Aug 2011

New protein discovery could help develop intracellular biologic drugs

Permeon Biologics, a biopharmaceutical company pioneering a novel class of intracellular protein biologics, today announced the discovery of an entirely new class of naturally occurring human supercharged proteins called Intraphilins-.

29 Jul 2011

Positive results from phase Ib/IIa trial of novel molecular technique for Duchenne muscular dystrophy

A molecular technique originally developed at the University of North Carolina at Chapel Hill has taken one step closer to becoming a treatment for the devastating genetic disease Duchenne muscular dystrophy.

27 Jul 2011

Most cases of facial nerve paralysis in children can be treated successfully

A half-paralyzed face with a motionless, drooping side can be alarming at any age, but when it occurs in a child it can be especially devastating.

30 Jun 2011

454 Life Sciences launches new GS FLX+ System for high-throughput sequencing

454 Life Sciences, a Roche Company, announced today the launch and immediate availability of the new GS FLX+ System, an instrument capable of generating extra-long sequencing reads up to 1,000 by in length.

28 Jun 2011

Gene Codes releases Sequencher 5.0

Gene Codes Corporation announces the release of Sequencher 5.0. It incorporates new DNA sequence data alignment algorithms with SNP and methylation analysis for next-generation DNA sequence data. Performance for assembly and alignment of sequences and contigs is hundreds of times faster.

28 Jun 2011