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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]
Research finds greater number of 'escaping genes' on X chromosome

Research finds greater number of 'escaping genes' on X chromosome

Research from the University of Bath has found a greater number of 'escaping genes' on the X chromosome than have been previously detected, with implications for the understanding of mental impairment in humans. [More]
International team of scientists discover new disease related to inability to process Vitamin B12

International team of scientists discover new disease related to inability to process Vitamin B12

An international team of scientists, including University of Colorado School of Medicine and Children's Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12. [More]
Study results suggest reexamination of biological, medical importance of X chromosome

Study results suggest reexamination of biological, medical importance of X chromosome

Painstaking new analysis of the genetic sequence of the X chromosome—long perceived as the "female" counterpart to the male-associated Y chromosome—reveals that large portions of the X have evolved to play a specialized role in sperm production. [More]
CLAMP: A newly discovered protein that regulates genes

CLAMP: A newly discovered protein that regulates genes

They say a good man is hard to find. Were it not for a newly discovered protein, the X chromosome of a male fruit fly could never be found by a gene-regulating complex that male flies need to develop and survive. And that case is just one example of what the new finding means. More generally, the research provides biologists with a model of how proteins that govern gene transcription find their targets on chromosomes, a process that's essential to healthy cell function and sometimes implicated in disease. [More]