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Genome-wide epigenomic screening can pinpoint thyroid disease-associated variants

Genome-wide epigenomic screening can pinpoint disease-associated variants and identify novel genetic-epigenetic interactions in autoimmune thyroid diseases, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

24 Sep 2012

‘C’ variant disrupts brain connectivity in children with ASD

Over the past decade, researchers have made great strides in identifying genes that lead to an increased risk of autism spectrum disorders (ASD), which result in a continuum of social deficits, communication difficulties and cognitive delays. But it's still critical to determine how exactly these genetic risk factors impact the brain's structure and function so that better treatments and interventions can be developed.

15 Sep 2012

Allele’s scientists describe important advance in generation of human stem cells

This week in the journal Scientific Reports, scientists from Allele Biotechnology describe an important advance in the generation of stem cells capable of producing all the different tissues of the human body.

15 Sep 2012

BRCA1/2 gene mutations lethal to human embryos

BRCA1/2 gene mutations, widely associated with breast and ovarian cancer risks in women, are, in principle, lethal to human embryos, according to new research conducted by three teams of researchers from the Center for Human Reproduction (CHR) in New York City, the Medical University Vienna in Vienna, Austria, and the Medical University Graz, Graz, Austria.

13 Sep 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

Genetic investigation of tribes may explain why East Asians have lower skin cancer rates

Genetic investigation of a Malaysian tribe may tell scientists why East Asians have light skin but lower skin cancer rates than Europeans, according to a team of international researchers. Understanding the differences could lead to a better way to protect people from skin cancer.

29 Aug 2012

Genetic key to severe malaria resistance uncovered

Researchers have identified two genetic variants linked with human resistance to severe malaria.

21 Aug 2012

Research focuses on evolution of sex and gamete function

The propagation of every animal on the planet is the result of sexual activity between males and females of a given species. But how did things get this way? Why two sexes instead of one? Why are sperm necessary for reproduction and how did they evolve? These as-yet-unresolved issues fascinate Timothy Karr, a developmental geneticist and evolutionary biologist at Arizona State University's Biodesign Institute.

13 Aug 2012

Leptin polymorphism combinations influence BMI in Chinese

The presence of genetic variants in both the leptin gene and the gene for its receptor may predispose Chinese individuals to obesity, report researchers.

7 Aug 2012

Children of U.S.-born Latina women more likely to develop retinoblastoma

In a large epidemiologic study, researchers at UCLA's Jonsson Cancer Center found that the children of U.S.-born Latina women are at higher risk of having retinoblastoma, a malignant tumor of the retina which typically occurs in children under six.

7 Aug 2012

Patients with multiple colorectal adenomas may carry germline mutations in APC or MUTYH genes

Among patients with multiple colorectal polyps, the prevalence of certain gene mutations varied considerably by polyp count, according to a study in the August 1 issue of JAMA.

1 Aug 2012

Gene discovery made for infant-onset blindness

Researchers have discovered that mutations in the NMNAT1 gene encoding nicotinamide mononucleotide adenylyltransferase 1 are present in patients with Leber congenital amaurosis.

1 Aug 2012

Population Genetics validates GenomePooling™ for cancer

Population Genetics Technologies Ltd., creator of innovative methods for genetic analyses and biomarker discovery, has successfully completed a pilot study to prove that its GenomePooling™ method is sensitive and accurate enough to detect even small percentages of gene variants within cancer tissue. This validates the method’s suitability for use in IntReALL 2010, the world’s largest genetic analysis of acute lymphoblastic leukaemia (ALL) relapse cases. ALL is the most common childhood malignant disease.

31 Jul 2012

GenomePooling™ method is sensitive and accurate

31 Jul 2012

EPHA3 mutations may be important drivers of lung cancers

Vanderbilt-Ingram Cancer Center researchers have identified how one of the genes most commonly mutated in lung cancer may promote such tumors.

31 Jul 2012

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers have identified a genetic underpinning of Wiedemann-Steiner syndrome.

23 Jul 2012

VDR polymorphisms may predict vitiligo in Chinese individuals

Polymorphisms in the vitamin D receptor gene may be involved in the etiology of vitiligo, suggest study findings from a population of Chinese individuals.

20 Jul 2012

Statistical method uses evolutionary information to enhance identification of disease-associated alleles

A book containing misprints may cause annoyance for the reader, but typos in an individual's genetic blueprint (DNA) can mean serious disease or even death. The search for genetic correlates for the wide range of diseases plaguing humankind has inspired a wealth of research falling under the heading of genome-wide association studies (GWAS).

19 Jul 2012

Studies provide evidence of connections between MCI and negative health outcomes

Two studies presented today at the Alzheimer's Association International Conference 2012 (AAIC 2012) in Vancouver provide evidence of connections between mild cognitive impairment (MCI) and negative health outcomes – increased isolation and death.

17 Jul 2012

Scientists clone tannin gene in sorghum

They might be called a blessing or a curse -- tannins, which are present in certain sorghums, contain health-promoting antioxidant properties, but also provide a bitter taste and decreased protein digestibility. To better understand tannins, their role in sorghum and how they can be altered to improve sorghum's use as food and feed, a team of scientists led by Kansas State University and U.S. Department of Agriculture researchers, has cloned the tannin gene in sorghum.

14 Jul 2012