Single Nucleotide Polymorphism News and Research

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Majority of parents with autistic child show interest in having genetic tests

The vast majority (80 percent) of parents with at least one child with Autism Spectrum Disorder (ASD) would pursue genetic testing if a test were available that could identify risk in a younger sibling, citing the desire for earlier identification of children at risk, earlier evaluation and intervention, closer monitoring and lessened anxiety.

29 Nov 2012

Weight-based ribavirin undertreats African–American HCV patients

African–Americans with hepatitis C virus genotype 1 infections have lower ribavirin plasma exposures than Caucasian Americans when treated with weight-based ribavirin plus peginterferon.

12 Nov 2012

Hereditary genes responsible for pain severity after motor vehicle collisions

Two studies presented at the ANESTHESIOLOGY 2012 annual meeting found that hereditary genes were responsible for the amount and type of pain experienced after a motor vehicle collision (MVC).

17 Oct 2012

Genetic basis of uterine fibroids uncovered

A mutation located near the fatty acid synthase gene is associated with an increased predisposition for uterine leiomyomata or fibroids, suggest US study findings.

8 Oct 2012

Dabigatran exposure may RE-LY on genetics

Researchers have found that variants in the ABCB1 and CES1 genes are associated with increased dabigatran plasma levels in patients taking the oral anticoagulant.

30 Aug 2012

Folate, excision biomarkers not predictive for small-cell lung cancer response

Biomarkers associated with the folate metabolism and excision repair pathways are not sufficiently prognostic to aid chemotherapy decisions for patients with extensive-stage disease small-cell lung cancer, results of a phase III trial show.

8 Aug 2012

Study confirms a rare susceptibility variant in glioma

Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor.

3 Jul 2012

Researchers identify genes that influence degeneration of the hippocampus

In a genome-wide association (GWA) study, researchers from Boston University Schools of Medicine (BUSM) and Public Health (BUSPH) have identified several genes which influence degeneration of the hippocampus, the part of the brain most associated with Alzheimer disease (AD).

29 Jun 2012

$Gene variant linked to postmenopausal fracture risk$

Gene variant linked to postmenopausal fracture risk

Women who carry a variation in a gene involved in blocking bone morphogenic proteins are more likely to have fragility fractures than women without the variant, Greek research shows.

1 Jun 2012

Overactive BAALC gene found in people with acute leukemia

A small inherited change in DNA is largely responsible for overactivating a gene linked to poor treatment response in people with acute leukemia.

25 May 2012

Couples with infertility and miscarriages offered detailed embryo screening with 99% accuracy

Termed “preimplantation genetic screening (PGS)” the process involves a full chromosome count of embryos to ensure only the healthiest are implanted. It has a 99 per cent accuracy rate, giving hopeful parents the best chance to conceive and carry a healthy baby to term.

30 Apr 2012

IntegraGen’s ARISk Test looks at 65 genetic markers associated with autism

IntegraGen, Inc., a biotechnology company dedicated to molecular biomarker discovery, today announced the launch of the ARISk- Risk Assessment Test, a gender specific, genetic screening test that looks at 65 genetic markers associated with Autism Spectrum Disorder.

5 Apr 2012

NutraGene introduces first ever commercial type 2 diabetes genetic test

With the launch of the country's first ever commercial genetic test for type 2 diabetes, Indians will now have access to clinically relevant and cost effective genetic risk assessment services. NutraGene, a Delhi based genomics company that launched the tests believes that its type 2 diabetes genetic test will provide physicians an effective tool in assessing the risk of diabetes in the Indian population and will help in implementing personalized prevention and management strategies.

3 Apr 2012

Researchers identify first gene associated with frequent herpes-related cold sores

A team of researchers from the University of Utah and the University of Massachusetts has identified the first gene associated with frequent herpes-related cold sores.

1 Dec 2011

C21orf91 gene associated with susceptibility to herpes simplex labialis

Investigators have identified a human chromosome containing a specific gene associated with susceptibility to herpes simplex labialis (HSL), the common cold sore.

28 Oct 2011

New genomic approach can trace food-borne bacteria with unprecedented accuracy

With salmonella-tainted ground turkey sickening more than 100 people and listeria-contaminated cantaloupes killing 15 this year, the ability to detect outbreaks of food-borne illness and determine their sources has become a top public health priority.

27 Oct 2011

Converting genetic data into biomedical knowledge a true challenge for statisticians

Within a decade, a combination of advanced measurement techniques and statistics will enable scientists to develop methods to diagnose serious diseases caused by genetic defects. Ten years after that, there may be medicines available to repair these defects.

21 Sep 2011

Gene Security Network announces commercial launch of non-invasive prenatal test

Gene Security Network Inc. (GSN) today announced the commercial launch of its first non-invasive prenatal test powered by the company's proprietary bioinformatics technology, Parental Support™.

18 Aug 2011

Gene PNPLA3 offers potential therapeutic target in chronic hepatitis C liver damage

New research confirms that a variant on the patatin-like phospholipase-3 (PNPLA3) gene increases risk of steatosis and fibrosis progression in patients with chronic hepatitis C virus (HCV). The PNPLA3 single nucleotide polymorphism (SNP) rs 738409 may represent an important genetic predictor and potential therapeutic target in chronic HCV liver damage.

29 Jun 2011

Calcium-sensing receptor plays key role in lethal lung cancer complication

A protein previously thought not to exist in adult human lungs not only is present in normal and cancerous lung tissue, scientists have found, but it also has a major role in the development of a lethal complication of some lung cancers.

14 Jun 2011