Genetics

An international team, led by University of California, San Diego School of Medicine researchers, has been awarded a $6.5 million grant from the National Institutes of Health (NIH) to study the pharmacogenomics of a key mood-stabilizing drug used to treat bipolar disorder...

A University of Florida genetics researcher has received $9.8 million to further a national effort to use genetic data to more effectively pinpoint which medications and treatments are best for individual patients. Julie A. Johnson, Pharm.D...

One-half of people using direct-to-consumer (DTC) personal genetic risk tests express concerns about testing-yet more than 80 percent want to know their risk even for non-preventable genetic diseases, according to a study in the September Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG)...

New findings reported in the September issue of Cell Metabolism, a Cell Press publication, appear to explain why people who carry specific and common versions of a single gene are more likely to have high cholesterol and to suffer a heart attack. Studies in mice show that the gene, known as sortilin (SORT1), controls the release of LDL (a.k.a...

Epeius Biotechnologies Corporation, a leader in the emerging field of targeted genetic medicine, reports the publication of a landmark paper in clinical oncology. Following up on its advanced U.S...

With its new expansion of the Pharmacogenomics Research Network (PGRN), the National Institutes of Health (NIH) awarded St. Jude Children's Research Hospital a prestigious grant to focus on anticancer agent research in children. The five-year, $8.6 million grant is titled "PAAR4Kids Pharmacogenomics of Anticancer Agents Research in Children." "We've been part of the PGRN for 10 years...

The first entire genome of an Irish individual has been sequenced. The sequence is reported in BioMed Central's open access journal, Genome Biology and provides insight into the evolutionary history of this distinct lineage...

Researchers at the California Institute of Technology (Caltech) have engineered a fundamentally new approach to killing cancer cells...

One of the most ambitious large-scale projects in Human Genetics has been launched: Epitwin will capture the subtle epigenetic signatures that mark the differences between 5,000 twins on a scale and depth never before attempted, providing key therapeutic targets for the development of drug treatments...

A new study in the September 6 issue of the Journal of Cell Biology helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases. Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death...

Cancer is a difficult disease to treat because it's a personal disease. Each case is unique and based on a combination of environmental and genetic factors. Conventional chemotherapy employs treatment with one or more drugs, assuming that these medicines are able to both "diagnose" and "treat" the affected cells...

CGC Genetics, a 18 year-old European medical genetic testing company has recently expanded to the USA. The company offers a broad menu of more than 1,500 molecular diagnostic, cytogenetic and clinical genomic CLIA laboratory tests that cover all the major disciplines of medicine...

Background: Endothelial tight and adherens junctions control a variety of physiological processes like adhesion, paracellular transport of solutes or trafficking of activated leukocytes. Formation and maintenance of endothelial junctions largely depend on the microenvironment of the specific vascular bed and on interactions of the endothelium with adjacent cell types. Consequently, primary cultures of endothelial cells often lose their specific junctional pattern and fail to establish tight monolayer in vitro. This is also true for endothelial cells isolated from the vein of human umbilical cords (HUVEC) which are widely used as model for endothelial cell-related studies. Results: We here compared the effect of cyclic 3'-5'-adenosine monophosphate (cAMP) and its derivates on formation and stabilization of tight junctions and on alterations in paracellular permeability in HUVEC. We demonstrated by light and confocal laser microscopy that for shorter time periods the sodium salt of 8-bromoadenosine-cAMP (8-Br-cAMP/Na) and for longer incubation periods 8-(4-chlorophenylthio)-cAMP (pCPT-cAMP) exerted the greatest effects of all compounds tested here on formation of continuous tight junction strands in HUVEC. We further demonstrated that although all compounds induced protein kinase A-dependent expression of the tight junction proteins claudin-5 and occludin only pCPT-cAMP slightly enhanced paracellular barrier functions. Moreover, we showed that pCPT-cAMP and 8-Br-cAMP/Na induced expression and membrane translocation of tricellulin. Conclusions: pCPT-cAMP and, to a lesser extend, 8-Br-cAMP/Na improved formation of continuous tight junction strands and decreased paracellular permeability in primary HUVEC. We concluded that under these conditions HUVEC represent a feasible in vitro model to study formation and disassembly of endothelial tight junctions and to characterize tight junction-associated proteins.

Whole-genome sequencing of an Irish person reveals hundreds of thousands of novel genomic variants. Imputation using previous known information improves the accuracy of low-read-depth sequencing.See research article: http://genomebiology.com/2010/11/9/R91

Background: Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population specific variation and disease susceptibility loci. Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11 fold coverage of the first Irish human genome sequence. Results: Using sequence data from a branch of the European ancestral tree as yet unsequenced, we identify variants that may be specific to this population. Through comparisons with HapMap and previous genetic association studies, we identified novel disease associated variants including a novel nonsense variant putatively associated with inflammatory bowel disease. We describe a novel method for improving SNP calling accuracy at low genome coverage using haplotype information. This analysis has implications for future re-sequencing studies and validates the imputation of Irish haplotypes using data from the current Human Genome Diversity Cell Line Panel (HGDP-CEPH). Finally, we identify gene duplication events as constituting significant targets of recent positive selection in the human lineage. Conclusions: Our findings show that there remains utility in generating whole genome sequences to illustrate both general principles and reveal specific instances of human biology. With increasing access to low cost sequencing we would predict that even armed with the resources of a small research group a number of similar initiatives geared towards answering specific biological questions will emerge.

Research by DNA fingerprinting pioneer and his team at University of Leicester defines engine for change in genetic hotspots...

Biologists at the University of California, San Diego have discovered that a gene critical for programmed cell death is also important in the loss of adult stem cells, a finding that could help to improve the health and well-being of patients undergoing cancer treatment...

One of the key drivers of human evolution and diversity, accounting for changes that occur between different generations of people, is explained by new research published by world-renowned scientist Professor Sir Alec Jeffreys, who discovered DNA fingerprinting at the University of Leicester...

Researchers at Yale School of Medicine have developed a new animal model for studying hemophilia A, with the goal of eventually treating people with the disorder. Hemophilia A, a hereditary defect that prevents blood from clotting normally, is caused by a variety of mutations in the factor VIII gene...

Female induced pluripotent stem (iPS) cells, reprogrammed from human skin cells into cells that have the embryonic-like potential to become any cell in the body, retain an inactive X chromosome, stem cell researchers at UCLA have found. The finding could have implications for studying X chromosome-linked diseases such as Rett syndrome, caused by mutations in a gene located on the X chromosome...