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Asuragen, Life Technologies announce European launch of BCR/ABL1 Quant Test

Asuragen, Inc. and Life Technologies Corporation announced today that they have achieved CE-marking and commercial launch in Europe of the BCR/ABL1 Quant™ Test, Asuragen's clinically validated and cGMP manufactured test intended to aid clinicians in the monitoring and treatment of individuals afflicted with chronic myeloid leukemia (CML). Asuragen manufacturers the monitoring test, which is exclusively distributed by Life Technologies and runs on the company's Applied Biosystems CE-marked 7500 Fast Dx Real-Time PCR Instrument™.

13 Jul 2010

Researchers identify genetic variant associated with increased risk of AAA

Geisinger researchers are part of an international team that has identified a genetic variant more common in individuals with abdominal aortic aneurysms. This is one of the largest studies ever into the genetics of AAA. The results of the work will appear in this week's online edition of Nature Genetics.

13 Jul 2010

Common SNP in sequence of human genome conferring risk of vascular diseases discovered

Scientists at deCODE genetics and academic colleagues from the Netherlands and twelve other countries across Europe and North America today report the discovery of a common single-letter variation (SNP) in the sequence of the human genome conferring risk of a range of vascular diseases. The SNP confers risk of abdominal aortic aneurysm (AAA), early-onset heart attack, peripheral artery disease (PAD), and pulmonary embolism, independent of other known risk factors.

12 Jul 2010

Study identifies a region in human genome that is linked to FSGS

An in-depth study of a family with multiple generations affected by kidney disease has identified a previously unknown location for a gene abnormality causing focal segmental glomerulosclerosis, according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology.

9 Jul 2010

Scientists identify potential disease genes in humans and mice

An international consortium of scientists of Helmholtz Zentrum München and the University of Toronto has identified previously unknown potential disease genes in humans and mice. Genes on the X chromosome, which regulate embryonic development, are the focus of the current publication in the renowned journal Genome Research. Men have only one X chromosome, and therefore mutations on this chromosome disproportionately affect males, frequently leading to serious diseases such as hemophilia, muscular dystrophy and mental retardation.

7 Jul 2010

Study finds EPB41L3 'protector gene' inactivated in 65% of ovarian cancers

A new gene that normally protects against ovarian cancer is switched-off in two-thirds of cases of the disease, reveals a study published in the journal Neoplasia today.

3 Jul 2010

Researchers identify gene abnormality for most common congenital birth defect, clubfoot

Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most common cause of inherited clubfoot yet discovered.

2 Jul 2010

AMP comments on array-based cytogenetic tests at FDA's public meeting

Today, the Association for Molecular Pathology presented comments at the US Food & Drug Administration's public meeting on array-based cytogenetic tests. The FDA convened the meeting to seek answers to more than a dozen questions they had on how to evaluate the performance, interpret results and report findings of array-based cytogenetic tests for copy number variation.

1 Jul 2010

Secondhand smoke exposure during pregnancy causes permanent genetic damage in newborns

Newborns of non-smoking moms exposed to secondhand smoke during pregnancy have genetic mutations that may affect long-term health, according to a University of Pittsburgh Graduate School of Public Health study published online in the Open Pediatric Medicine Journal. The abnormalities, which were indistinguishable from those found in newborns of mothers who were active smokers, may affect survival, birth weight and lifelong susceptibility to diseases like cancer.

1 Jul 2010

Rubicon Genomics' PicoPlex linear WGA technology proves effective in clinical study

Rubicon Genomics today announced that its PicoPlex linear whole genome amplification technology was proven to be effective in an independent clinical study organized by the European Society for Human Reproduction and Embryology. At a press conference during its 26th Annual Meeting in Rome, ESHRE reported the success of its "groundbreaking proof of principle study" showing that a new approach incorporating PicoPlex could more accurately detect and characterize chromosomal abnormalities in human eggs.

1 Jul 2010

Simple blood test may help detect chromosomal abnormalities in developing foetus

Researchers in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus.

29 Jun 2010

Telomere length could prove a quality marker for embryonic development

Scientists from the University of Warwick and University Hospitals Coventry and Warwickshire NHS Trust, are the first to directly measure a specific region of DNA in human embryos. The length of this region could be a quality marker for embryonic development.

29 Jun 2010

Non-Invasive prenatal blood test to detect chromosomal abnormalities in foetus

Researchers in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus. At present, the only reliable way to do this is through amniocentesis or chorionic villus sampling, both of which are invasive and carry the risk of triggering a miscarriage.

29 Jun 2010

Scientists use PGS method to analyse chromosomal status of eggs

The efficacy of preimplantation genetic screening has been one of the most hotly disputed subjects in assisted reproduction over the past few years. The European Society of Human Reproduction and Embryology PGS Task Force has now shown, in its groundbreaking proof of principle study, that screening of polar bodies (small cells that are the by-product of egg development), is a reliable method to analyse the chromosomal status of an egg.

28 Jun 2010

12 new gene variants that impact individual's risk of developing type 2 diabetes identified

An international consortium including Helmholtz Zentrum München and the German Diabetes Center, Düsseldorf has identified 12 new gene variants which impact the individual's risk of developing type 2 diabetes. The study represents a major contribution towards elucidating the complex pathogenesis of this important widespread disease. Nature Genetics has published the findings of this study in its current issue.

28 Jun 2010

Scientists uncover variations in X chromosome inactivation in early passages of female embryonic stem cells

Human embryonic stem cells hold great promise for studying and treating disease and for the practice of regenerative medicine. However, more must be learned to ensure the cells that may one day be transplanted into humans are safe.

28 Jun 2010

Researchers identify novel protein complex that regulates genes in fruit flies and mammals

Researchers from the European Molecular Biology Laboratory in Heidelberg, Germany, and the Max-Planck Institute of Immunobiology Freiburg have identified a novel protein complex that regulates around 4000 genes in the fruit fly Drosophila and likely plays an important role in mammals, too. Published today in Molecular Cell, their findings explain how another regulatory protein can lead a double life.

28 Jun 2010

International team obtains genome sequence of human body louse

An international team has obtained the genome sequence of the human body louse (Pediculus humanus humanus), a parasite that feeds on the blood of its host and a vector of pathogens that cause diseases such as epidemic typhus, relapsing fever and trench fever.

22 Jun 2010

Research may identify reasons underlying increased risk of AAA in men

Research currently being undertaken at the University of Leicester may identify reasons underlying an increased risk of Abdominal Aortic Aneurysms in men.

19 Jun 2010

University of Utah makes progress against SMA with support of Families of Spinal Muscular Atrophy

Researchers at the University of Utah are making strides in understanding and combating a motor neuron disease known as Spinal Muscular Atrophy. The spinal muscular atrophies are a group of inherited diseases that cause progressive degeneration of motor nerves resulting in muscle weakness.

18 Jun 2010

X chromosome News and Research

Asuragen, Life Technologies announce European launch of BCR/ABL1 Quant Test

Researchers identify genetic variant associated with increased risk of AAA

Common SNP in sequence of human genome conferring risk of vascular diseases discovered

Study identifies a region in human genome that is linked to FSGS

Scientists identify potential disease genes in humans and mice

Study finds EPB41L3 'protector gene' inactivated in 65% of ovarian cancers

Researchers identify gene abnormality for most common congenital birth defect, clubfoot

AMP comments on array-based cytogenetic tests at FDA's public meeting

Secondhand smoke exposure during pregnancy causes permanent genetic damage in newborns

Rubicon Genomics' PicoPlex linear WGA technology proves effective in clinical study

Simple blood test may help detect chromosomal abnormalities in developing foetus

Telomere length could prove a quality marker for embryonic development

Non-Invasive prenatal blood test to detect chromosomal abnormalities in foetus

Scientists use PGS method to analyse chromosomal status of eggs

12 new gene variants that impact individual's risk of developing type 2 diabetes identified

Scientists uncover variations in X chromosome inactivation in early passages of female embryonic stem cells

Researchers identify novel protein complex that regulates genes in fruit flies and mammals

International team obtains genome sequence of human body louse

Research may identify reasons underlying increased risk of AAA in men

University of Utah makes progress against SMA with support of Families of Spinal Muscular Atrophy

Leveraging the power of automation to boost research

Automating research - solutions and best practices

How can microdialysis benefit drug development

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