Feature Channels: Genetics

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Although the human genome sequence faithfully lists (almost) every single DNA base of the roughly 3 billion bases that make up a human genome, it doesn’t tell biologists much about how its function is regulated. Now, researchers at the Salk Institute provide the first detailed map of the human epigenome, the layer of genetic control beyond the regulation inherent in the sequence of the genes themselves.

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The Association for Molecular Pathology (AMP) provided comments at the SACGHS meeting on Oct. 8. AMP opposes the patenting of all naturally occurring genetic material and has signed on as a lead plaintiff in the ACLU case challenging Myriad Genetics’ patents on the BRCA 1 and BRCA 2 genes.

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Researchers are working to determine if marker genes may help determine the possible effectiveness of GIST-targeted molecular treatment, according to a study presented at the 2009 Clinical Congress of the American College of Surgeons.

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An international coalition of physicians and scientists, led by Huntsman Cancer Institute (HCI) at the University of Utah, has proposed guidelines for the first time concerning genetic testing for melanoma patients.

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A sophisticated computational algorithm, applied to a large set of gene markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes. The technique, applied to appropriate complex multigenic diseases, may improve prospects for personalizing medicine to an individual’s genetic profile.

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In one of the first studies of its kind, an international team of researchers has uncovered a single-letter change in the genetic code that is associated with autism. The finding, published in the October 8 issue of the journal Nature, implicates a neuronal gene not previously tied to the disorder and more broadly, underscores a role for common DNA variation.

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About 90 percent of autism spectrum disorders have suspected genetic causes but few genes have been identified so far. Now, leading an international team, Johns Hopkins researchers have identified several genetic links to autism, chief among them a variant of semaphorin 5A, whose protein product controls nerve connections in the brain.

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A Florida State University College of Medicine researcher has solved a century-old mystery about proteins that play a vital role in the transfer of the human genetic code from one cell to another. The discovery could lead to finding new ways to help the body fight a variety of diseases, including cancer.

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The Cancer Genome Atlas (TCGA) will fund an effort by scientists at The University of Texas M. D. Anderson Cancer Center to siphon buckets of meaningful information from an ocean of data about the aberrant genetics that drive human cancers.

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Results from the largest ever twin study confirms that genetics play a role in autism spectrum disorders (ASDs), but also suggest that environmental factors play a role. The study examined concordance rates between identical and fraternal twins and was published in the October issue of Archives of Pediatrics and Adolescent Medicine.

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Virginia Commonwealth University researchers have identified the role of a gene in regulating molecular signals involved with ovarian follicle development, which may one day help shed light on some of the causes of fertility issues in humans.

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University of Maryland biologists have genetically mapped the sex chromosomes of several species of cichlid (pronounced "sick-lid") fish from Lake Malawi, East Africa, and identified a mechanism by which new sex chromosomes may evolve.

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Johns Hopkins’ Center for the Epigenetics of Common Human Disease has been chosen as one of four recipients of a $45 million National Institutes of Health (NIH) grant for Centers of Excellence to advance genomics research. The Hopkins Center will receive $16.8 million over five years.

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The National Human Genome Research Institute (NHGRI) of the National Institutes of Health today announced an $8 million, three-year grant to establish a Wisconsin Center of Excellence in Genomics Science. The new Center is a collaborative effort between the University of Wisconsin in Madison, The Medical College of Wisconsin, and Marquette University, and will be coordinated by the Medical College of Wisconsin.

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UCLA scientists have identified two chemicals that convince cells to ignore premature signals to stop producing important proteins. The findings could lead to new medications for genetic diseases, such as cancer and muscular dystrophy, that are sparked by missing proteins.

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A team of researchers from Thomas Jefferson University and the University of Delaware have received a grant from the Department of Defense to create a three-dimensional patient imaging system that will allow surgeons to view and touch selected organs and tissues prior to surgery.

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In a study published in the September 24th issue of Nature, an international team describes how they harnessed modern genomic technology to explore the ancient history of India, the world’s second most populous nation.

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A University of Oregon research team has found that evolution can never go backwards, because the paths to the genes once present in our ancestors are forever blocked. The findings come from the first rigorous study of reverse evolution at the molecular level.

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An international team, led by researchers from the University of California, San Diego School of Medicine and the National Eye Institute, has discovered gene variants for glaucoma in a black population. The finding could lead to future treatments or a cure for this disease, which leads to blindness in two million Americans each year.

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1) Data Mining to Redesign Critical Care Services; 2) Zebrafish Genetics; 3) Diabetes and Heart Damage — an iPS Cell Approach; 4) Brain Cancer: Angling for its Origins.