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Researchers set up innovative project to monitor physical activity of patients with haemophilia

Researchers set up innovative project to monitor physical activity of patients with haemophilia

The research group Intelligent Data Analysis Laboratory from the School of Engineering Universitat de València (UV) and a team of scientists at the Faculty of Physiotherapy led by Professor Felipe Querol have set up an innovative project for monitoring the physical activity of people with haemophilia through individual devices with the purpose of developing patterns which help to improve their quality of life and treatments. [More]
Whole exome sequencing can assist in early diagnosis of various disorders

Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston. [More]
Researchers reveal how alteration of single nucleotide could initiate fragile X syndrome

Researchers reveal how alteration of single nucleotide could initiate fragile X syndrome

Researchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. The study appears in The Journal of Cell Biology. [More]
Minnesota researchers develop animal research model for FSHD

Minnesota researchers develop animal research model for FSHD

Researchers at the University of Minnesota have developed an animal research model for facioscapulohumeral muscular dystrophy (FSHD) to be used for muscle regeneration research as well as studies of the effectiveness of potential therapies for FSHD. [More]
Study examines national impact of newborn screening test for SCID

Study examines national impact of newborn screening test for SCID

Severe combined immunodeficiency (SCID), a potentially life-threatening, but treatable, disorder affecting infants, is twice as common as previously believed, according to a new study that is the first to examine the national impact of this newborn screening test. [More]
Scientists identify mechanism by which inherited neurological disease causes muscle weakness in men

Scientists identify mechanism by which inherited neurological disease causes muscle weakness in men

Researchers at University of California, San Diego School of Medicine have identified the mechanism by which a rare, inherited neurodegenerative disease causes often crippling muscle weakness in men, in addition to reduced fertility. [More]
Study: Socialization emerges as relative strength in boys with fragile X

Study: Socialization emerges as relative strength in boys with fragile X

Standard scores measuring "adaptive behavior" in boys with fragile X syndrome tend to decline during childhood and adolescence, the largest longitudinal study of the inherited disorder to date has found. [More]
First diagnostic criteria proposed for Christianson Syndrome

First diagnostic criteria proposed for Christianson Syndrome

Because the severe autism-like condition Christianson Syndrome was only first reported in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information about it. A new study that doubles the number of cases now documented in the scientific literature provides the most definitive characterization of CS to date. [More]
Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Lysosomes are subcellular organelles that are present in most cells, with the major exception of red blood cells. [More]
Modified mosquitoes produce sperm that only creates males

Modified mosquitoes produce sperm that only creates males

Scientists have modified mosquitoes to produce sperm that will only create males, pioneering a fresh approach to eradicating malaria. [More]
Scientists define genetic cause for two types of birth defects in newborn boys

Scientists define genetic cause for two types of birth defects in newborn boys

Baylor College of Medicine scientists defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys, described in a report published today in the journal Nature Medicine. [More]
Findings shed light on evolutionary history of sex chromosomes

Findings shed light on evolutionary history of sex chromosomes

In many species, the possession of X and Y chromosomes determines whether an individual develops into a male or female. [More]
Study: Added benefit of turoctocog alfa is not proven

Study: Added benefit of turoctocog alfa is not proven

Turoctocog alfa (trade name: NovoEight) has been approved since November 2013 for the prevention and treatment of bleeding in patients with haemophilia A. [More]
Study suggest that women are resistant to mutations that contribute to autism

Study suggest that women are resistant to mutations that contribute to autism

It takes more mutations to trigger autism in women than in men, which may explain why men are four times more likely to have the disorder, according to a study published 26 February in the American Journal of Human Genetics1. [More]
Understanding genetic changes associated with aggressive prostate cancer

Understanding genetic changes associated with aggressive prostate cancer

Researchers at the University of East Anglia have made an important advance in understanding genetic changes associated with terminal prostate cancer. [More]
New gene therapy restores some sight in people born with inherited form of blindness

New gene therapy restores some sight in people born with inherited form of blindness

A new gene therapy has restored some sight in people born with an inherited, progressive form of blindness. The technique replaces a defective gene in the eye with a normal working copy of the gene using a single injection. [More]
Study shows wide-ranging variation in patterns of X chromosome inactivation in female mice

Study shows wide-ranging variation in patterns of X chromosome inactivation in female mice

Producing brightly speckled red and green snapshots of many different tissues, Johns Hopkins researchers have color-coded cells in female mice to display which of their two X chromosomes has been made inactive, or “silenced.” [More]

Polyunsaturated fatty acids play key role in embryonic development

One classical question in developmental biology is how different tissue types arise in the correct position of the developing embryo. While one signaling pathway that controls this process has been well described, unexpected findings from a team led by Carnegie's Steven Farber reveal the importance of polyunsaturated fatty acid metabolism in this process. It is published online December 12 in Developmental Cell. [More]
Researchers take a step forward in unravelling the causes of inherited intellectual disability

Researchers take a step forward in unravelling the causes of inherited intellectual disability

University of Adelaide researchers have taken a step forward in unravelling the causes of a commonly inherited intellectual disability, finding that a genetic mutation leads to a reduction in certain proteins in the brain. [More]
Research: Hypermutation in cancer is more frequent in inactive X chromosome

Research: Hypermutation in cancer is more frequent in inactive X chromosome

Every case of cancer originates from changes in a person's genetic material (mutations). These usually occur as "somatic mutations" in individual cells during an individual's lifetime, rather than being inherited from a person's parents. [More]