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Inexpensive exome sequencing can quickly detect heterogeneous diseases

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics.

25 Jun 2012

AB Science announces data from development program of masitinib in GIST

AB Science SA, a pharmaceutical company specializing in the research, development and commercialization of protein kinase inhibitors (PKIs), announces today that data from the development program of masitinib in gastrointestinal stromal tumors (GIST) have been presented as part of three presentations delivered at the American Society of Clinical Oncology (ASCO) 2012 Annual Meeting, 1-5 June in Chicago, Illinois.

6 Jun 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 identify elusive gene responsible for TAR syndrome

Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that allows prenatal diagnosis and genetic counselling in affected families.

27 Feb 2012

TB associated with EGFR mutations in patients with lung adenocarcinoma

Tuberculosis (TB) has been suspected to increase a person's risk of lung cancer because the pulmonary inflammation and fibrosis can induce genetic damage. However, direct evidence of specific genetic changes and the disease have not been extensively reported.

19 Jan 2012

Agilent expands life sciences business with two strategic acquisitions

Agilent Technologies Inc. today announced it is expanding its life sciences business with two strategic acquisitions.

2 Dec 2011

Scientists identify novel gene mutation that causes glioblastoma

Scientists at the University of California, San Diego School of Medicine and UC San Diego Moores Cancer Center, in collaboration with colleagues in Boston and South Korea, say they have identified a novel gene mutation that causes at least one form of glioblastoma (GBM), the most common type of malignant brain tumor.

18 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

AVI BioPharma, MDA to initiate exon-51 Phase 2 trial in Duchenne muscular dystrophy

More than a decade of targeted Muscular Dystrophy Association-funded research, made possible as a result of generous public support of the MDA Labor Day Telethon and thousands of grass-roots special events, has today culminated in MDA providing financial assistance for the start of the first Phase 2 placebo-controlled, multiple dose efficacy, safety, tolerability and pharmacokinetics clinical trial of an exon-51 skipping drug, eteplirsen, as a potential therapy for Duchenne muscular dystrophy.

16 Aug 2011

New genetic cause of retinitis pigmentosa

Combining the expertise of several different labs, University of Iowa researchers have found a new genetic cause of the blinding eye disease retinitis pigmentosa (RP) and, in the process, discovered an entirely new version of the message that codes for the affected protein.

10 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

Promising drug for Duchenne muscular dystrophy

Duchenne muscular dystrophy is a severely debilitating and lethal condition that affects 1 in 3,000. Females and males are affected, though females are rarely affected and are more often carriers. It is caused due to a defective gene that normally codes for the protein dystrophin, which helps provide a protective membrane around muscle fibers. Without this skin, muscle fibers become damaged and eventually die.

25 Jul 2011

US-LACRN selects Agilent gene expression microarrays for major breast cancer study

Agilent Technologies Inc. today announced that the United States-Latin American Cancer Research Network has selected Agilent Gene Expression microarrays and associated instruments for a major study of breast cancer in five Latin American nations.

21 Apr 2011

New study to provide better diagnoses for children with developmental disorders

A new UK study will provide better diagnoses for children with developmental disorders caused by changes in their genetic makeup. Scientists and clinicians will build a new national resource of genetic information and symptoms, based on data from 12,000 children who have a serious delay in their physical or mental development or are born with multiple malformations.

23 Mar 2011

Duchenne Parent Project awards grant to AMT for DMD gene therapy

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, announced today that the Duchenne Parent Project, based in the Netherlands, has awarded AMT a grant of EUR 145,000 to support the development of AMT-080, AMT's gene therapy for Duchenne Muscular Dystrophy.

7 Mar 2011

Biologist investigates CAPV-EAE population for hereditary breast and ovary cancer

Between 5 % and 10 % of breast cancer cases are hereditary, arising because the patient inherits from the father or mother a mutation in a gene that is susceptible to causing the illness. BRCA1 and BRCA2 have already been identified as two of the genes to be monitored. It is estimated that 30 % of hereditary breast cancer cases are due to mutations in one of these two genes.

19 Feb 2011

GSK and Prosensa commence GSK2402968 Phase III study in DMD

GlaxoSmithKline and Prosensa today announced that the first patient has commenced treatment in the Phase III clinical study investigating GSK2402968, in ambulant boys with Duchenne Muscular Dystrophy (DMD), who have a dystrophin gene mutation amenable to an exon 51 skip (up to 13% of boys with DMD). Commencement of this study confirms previously announced plans to progress this asset into Phase III.

20 Jan 2011

Encouraging results from exon skipping gene-based therapy study for DMD

Scientists at Royal Holloway, University of London have reported encouraging results in a new gene-based therapy for Duchenne Muscular dystrophy (DMD) which at present has no known cure and affects one in 3,000 young boys.

4 Jan 2011

Agilent releases GeneSpring GX 11.5 multi-omics bioinformatics system

Agilent Technologies Inc. today introduced GeneSpring GX 11.5, an expansion of its popular bioinformatics software into visualizing and analyzing multiple types of biological data. GeneSpring GX 11.5 now interprets exon microarray, proteomics and metabolomics experiments together for the first time, using a familiar interface.

23 Nov 2010

Researchers document novel form of splicing in nerve cell cytoplasm

Cells have their own version of the cut-and-paste editing function called splicing. Researchers at the University of Pennsylvania School of Medicine have documented a novel form of splicing in the cytoplasm of a nerve cell, which dictates a special form of a potassium channel protein in the outer membrane.

19 Nov 2010