Genetic medicine

Children of a heterozygous parent are expected to carry either allele with equal probability. Exceptions can occur, however, due to meiotic drive, competition among gametes, or viability selection, which we collectively term “transmission distortion” (TD). Although there are several well-characterized examples of these phenomena, their existence in humans remains unknown. We therefore performed a genome-wide [...]

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See on Scoop.it – inPharmatics Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association See on jamia.bmj.com Source:http://microarray.wordpress.com/feed/

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See on Scoop.it – inPharmatics Read about why a Qualcomm Life executive says mobile health doesn’t yet have an Instagram, and why it eventually will. See on www.medcitynews.com Source:http://microarray.wordpress.com/feed/

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Public release date: 3-May-2012 [ | E-mail | Share ] Contact: Rosanne Spector manishma@stanford.edu 650-725-5374 Stanford University Medical Center STANFORD, Calif. The common occurrence of blond hair among the dark-skinned indigenous people of the Solomon Islands is due to a homegrown genetic variant distinct from the gene that leads to blond hair in Europeans, according to a new study from the Stanford University School of Medicine. “This is one of the most beautiful examples to date of the mapping of a simple genetic trait in humans,” said David Reich, PhD, a professor of genetics at Harvard University, who was not involved in the study.

MICHAEL FIELD/Fairfax NZ BLOND BEAUTY: A Solomon Island boy displays his locks. A new genetic line in blond hair has been discovered in an unlikely place – among the people of Melanesia in the Solomon Islands and Fiji

ScienceDaily (May 3, 2012) Researchers at Seattle Children’s Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe or eat properly without reparative surgery. In a study led by Michael L

Excess sun exposure, a diet rich in fish, and gene inheritance from ancient explorers and traders, are all possible theories why some dark-skinned indigenous Solomon Islanders are naturally blonde, according to new research published today in the journal Science. The study, led by Stanford University researchers, found that 5 to 10 percent of the indigenous Solomon population have a gene that is responsible for blondeness.

Public release date: 1-May-2012 [ | E-mail | Share ] Contact: Doug Dusik ddusik@aasmnet.org 630-737-9700 American Academy of Sleep Medicine DARIEN, IL Toss out another old wives’ tale: Sleeping too much does not make you fat. Quite the opposite, according to a new study examining sleep and body mass index (BMI) in twins, which found that sleeping more than nine hours a night may actually suppress genetic influences on body weight. The study looked at 1,088 pairs of twins and found that sleeping less than seven hours a night was associated with both increased BMI and greater genetic influences on BMI

COMMENTARY | After a number of studies hinting at a link between sleep deprivation and weight gain, researchers have discovered the impact between sleep and genetics and the resulting effect on how much a person weighs.

Diseases that strike different parts of the bodyand that don’t seem to resemble each other at allmay actually have a lot in common. Scientists have identified the genetic basis for many separate diseases. Now, some researchers are looking at how the genes interact with each other

Public release date: 26-Apr-2012 [ | E-mail | Share ] Contact: Dr.

FRIDAY, April 27 (HealthDay News) — Two genetic variations are linked to a common form of glaucoma, known as primary open-angle glaucoma, according to new research.

Public release date: 27-Apr-2012 [ | E-mail | Share ] Contact: Patty Kim patty.kim@moffitt.org 813-745-7322 H. Lee Moffitt Cancer Center & Research Institute M.

23.04.2012 – (idw) Stiftung Tierrztliche Hochschule Hannover Hannover Veterinary University Scientists sequenced the complete motilin gene in German Holstein cows Left-sided displacement of the abomasum (LDA) is an economically important disease in Holstein dairy cattle populations all over the world.


18-04-2012 07:18 April 12, 2012 “New Technologies, New Challenges: Women and Prenatal Genetic Testing in the 21st Century” Session 3: Navigating the Options: Evolving Prenatal Genetic Technologies and their Impact on Pregnant Women Presented by The Law-Medicine Center Co-Sponsored by: Cleveland Clinic Center for Ethics, Humanities and Spiritual Care Center for Genetic Research Ethics and Law (CGREAL), Case Western Reserve University

SAN DIEGO, April 19, 2012 /PRNewswire/ — Sequenom, Inc.

When a child has autism, siblings are also at risk for the disorder. New research from Washington University School of Medicine in St. Louis shows that the genetic reach of the disorder often extends to half siblings as well.

Public release date: 18-Apr-2012 [ | E-mail | Share ] Contact: Raquel Maurier raquel.maurier@ualberta.ca 780-492-5986 University of Alberta Faculty of Medicine & Dentistry (Edmonton) A medical researcher at the University of Alberta is working with scientists from across North America to find out if there are genetic markers for autism. More than 15 scientists will examine DNA samples from children with autism and their infant siblings to see if the siblings are at high risk

Cystathionine-β-synthase (CBS) deficiency is a human genetic disease causing homocystinuria, thrombosis, mental retardation, and a suite of other devastating manifestations. Early detection coupled with dietary modification greatly reduces pathology, but the response to treatment differs with the allele of CBS. A better understanding of the relationship between allelic variants and protein function will improve both [...]

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Cholesterol and phospholipids serve as structural and functional components of cellular membranes in all eukaryotes. Heterogeneity in cholesterol and phospholipid content both within and between different organelles is an important characteristic of eukaryotic membranes. How this heterogeneity is achieved and orchestrated to maintain proper cellular physiology remains poorly understood. We previously found that overexpression of [...]

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