Exons News and Research

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Targeted sequencing of exome can help identify potential disease-causing genes

Researchers from University of Miami Miller School of Medicine and Roche Applied Science have recently published a research study on human exome resequencing results from eight individuals that span across three generations of a family. The findings of this study showcased the value of targeted enrichment for family-based studies which allows researchers to quickly identify potential disease-causing genetic variants and will provide the data and information for further research to better understand disease and the impact across generations of a family.

29 Jan 2010

Study: Warburg effect promotes rapid cell proliferation and tumor growth

A team of scientists led by Professor Adrian Krainer, Ph.D., of Cold Spring Harbor Laboratory has discovered molecular factors in cancer cells that boost the production of an enzyme that helps alter the cells' glucose metabolism. The altered metabolic state, called the Warburg effect, promotes extremely rapid cell proliferation and tumor growth. Adrian Krainer, Ph.D.

23 Jan 2010

Joubert Syndrome - an inherited neurological disease found among Ashkenazi Jews

Two scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert Syndrome. JBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general population but found relatively more often among Ashkenazi Jews.

18 Jan 2010

Tel Aviv University researchers unravel the mysteries of DNA packaging

The RNA "spools" that make up DNA in our genes need careful editing, too. Genes are composed of meaningful sequences, called exons, separated by meaningless junk sections called introns.

15 Dec 2009

Roche's high-throughput sequencing technology used for high-resolution HLA genotyping

A study published this month in the journal Tissue Antigens reports that researchers at Roche Molecular Systems in Pleasanton, CA have used high-throughput sequencing technology from 454 Life Sciences, a Roche Company, to carry out high-resolution human leukocyte antigen (HLA) genotyping in research samples.

27 Oct 2009

Research shows exon-skipping drug may prove effective for treating Duchenne muscular dystrophy

An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan.

21 Oct 2009

Agilent Technologies introduces SureSelect Human All Exon Kit

Agilent Technologies Inc. (NYSE:A) has chosen the Cambridge Health Institute’s Next-Generation Sequencing Analysis conference today to introduce its SureSelect Human All Exon Kit for target enrichment prior to next-generation DNA sequencing.

23 Sep 2009

Febit's DNA-capture method selected by NCGR to re-sequence 400 genes involved in childhood diseases

The National Center for Genome Resources (NCGR) has selected febit's DNA-capture method, HybSelect, to re-sequence the exons of genes involved in over 400 of the most devastating childhood diseases with the ultimate goal of developing genetic tests to detect carrier status for recessive genetic diseases in prospective parents.

11 Aug 2009

New pieces in the autism inheritance puzzle

Pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia (CHOP). The study identified 27 different genetic regions where rare copy number variations - missing or extra copies of DNA segments - were found in the genes of children with autism spectrum disorders, but not in the healthy controls. The findings are published June 26 in the open-access journal PLoS Genetics.

30 Jun 2009

DNA template could explain evolutionary shifts

Rearrangements of all sizes in genomes, genes and exons can result from a glitch in DNA copying that occurs when the process stalls at a critical point and then shifts to a different genetic template, duplicating and even triplicating genes or just shuffling or deleting part of the code within them, said researchers from Baylor College of Medicine in a recent report in the journal Nature Genetics.

22 Jun 2009

Getting more from whole-transcript microarrays

The widely-used Affymetrix Whole-Transcript Gene 1.0 ST (sense target) microarray platform, normally used to assay gene expression, can also be utilized to interrogate exon-specific splicing. Research published today in the open access journal BMC Bioinformatics shows scientists how to monitor alternative splicing activity on a genome-wide scale, without investing in new exon microarray technologies.

22 May 2009

Discovery of new pathway of tumourigenesis in humans

The first identification of GP130 somatic activating mutations in human tumours was announced today at EASL 2009, the Annual Meeting of the European Association for the Study of Liver Disease in Copenhagen, Denmark.

23 Apr 2009

Discovery of master switch that might prevent cancer cells from metastasizing

Researchers at the University of Pennsylvania School of Medicine have identified a master switch that might prevent cancer cells from metastasizing from a primary tumor to other organs.

16 Mar 2009

First treatment for muscular dystrophy a step closer

Genetic researchers at Children's National Medical Center and the National Center of Neurology and Psychiatry in Tokyo published the results of the first successful application of "multiple exon-skipping" to curb the devastating effects of Duchenne muscular dystrophy in an animal larger than a mouse.

16 Mar 2009

Novel genetic technology for canine form of muscular dystrophy

Using a novel genetic technology that covers up genetic errors, researchers funded in part by the National Institutes of Health have developed a successful treatment for dogs with the canine version of Duchenne muscular dystrophy, a paralyzing, and ultimately fatal, muscle disease.

16 Mar 2009

Jumping genes play significant role in gene regulatory networks

Research performed in the Center for Biomolecular Science & Engineering (CBSE) at the University of California, Santa Cruz, suggests that mobile repetitive elements--also known as transposons or "jumping genes"--do indeed affect the evolution of gene regulatory networks.

16 Feb 2009

From the works of Shakespeare to the genomes of viruses

What does uncovering the true authorship of plays attributed to Shakespeare have to do with identifying our genetic ancestors or classifying new life forms?

11 Feb 2009

Alternative splicing proteins prompt heart development

Just as the emotions it represents are dynamic, the heart's development requires dynamic shifts in proteins that prompt alternative spicing, a mechanism that allows a given gene to program the cell to make several proteins, said a group of researchers at Baylor College of Medicine in a report that appears online in the journal Proceedings of the National Academy of Sciences.

8 Dec 2008

New method provides panoramic view of protein-RNA interactions in living cells

DNA, it has turned out, isn't all it was cracked up to be. In recent years we learned that the molecule of life, the discovery of the 20th century, did not - could not - by itself explain the huge differences in complexity between a human and a worm.

2 Nov 2008

Scientists develop genome-wide platform to study how specialized proteins regulate RNA in living, intact cells

DNA, it has turned out, isn't all it was cracked up to be. In recent years we learned that the molecule of life, the discovery of the 20th century, did not -- could not -- by itself explain the huge differences in complexity between a human and a worm.

2 Nov 2008