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Causative gene of a rare disorder discovered by sequencing only protein-coding regions of genome
For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder. view more (2009-11-20)
New Down syndrome treatment suggested by Stanford/Packard study in mice
At birth, children with Down syndrome aren't developmentally delayed. But as they age, these kids fall behind. Memory deficits inherent in Down syndrome hinder learning, making it hard for the brain to collect experiences needed for normal cognitive development. view more (2009-11-19)
Cognitive dysfunction reversed in mouse model of Down syndrome
A study by neuroscientist William C. Mobley, MD, PhD, chair of the Department of Neurosciences at the University of California, San Diego School of Medicine, and colleagues at Stanford University Medical School has demonstrated a possible new approach to slowing the inevitable progression of cognitive decline found in Down's syndrome. view more (2009-11-19)
Night Beat, Overtime and a Disrupted Sleep Pattern Can Harm Officers' Health
A police officer who works the night shift, typically from 8 p.m. to 4 a.m., already is at a disadvantage when it comes to getting a good "night's" sleep. view more (2009-11-18)
Scientists successfully reprogram blood cells
Researchers have transplanted genetically modified hematopoietic stem cells into mice so that their developing red blood cells produce a critical lysosomal enzyme -preventing or reducing organ and central nervous system damage from the often-fatal genetic disorder Hurler's syndrome. view more (2009-11-10)
Language support is important for children with autism
Teachers and parents must be vigilant in observing difficulties with language comprehension, reading and spelling in children and young people with autism, Asperger's syndrome and ADHD. view more (2009-11-10)
Postmenopausal women with higher testosterone levels
Postmenopausal women who have higher testosterone levels may be at greater risk of heart disease, insulin resistance and the metabolic syndrome compared to women with lower testosterone levels. view more (2009-11-04)
Clinical tests begin on medication to correct Fragile X defect
NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common inherited cause of intellectual disability. view more (2009-11-03)
Sneezing in times of a flu pandemic
The swine flu (H1N1) pandemic has received extensive media coverage this year. The World Health Organization, in addition to providing frequent updates about cases of infection and death tolls, recommends hyper vigilance in daily hygiene such as frequent hand washing or sneezing into the crook of our arms. view more (2009-11-03)
Researchers identify the three killer indicators that are even worse than high cholesterol
Researchers at the University of Warwick have identified a particular combination of health problems that can double the risk of heart attack and cause a three-fold increase in the risk of mortality. view more (2009-11-03)
Trembling hands and molecular handshakes
Fragile X tremor/ataxia syndrome (FXTAS) is a recently recognized condition, which is actually one of the most prevalent heritable neurodegenerative diseases. view more (2009-10-26)
Canadian scientists link fat hormone to death from potentially deadly blood infection
A new Canadian study has found that lower-than-normal levels of a naturally-occurring fat hormone may increase the risk of death from sepsis-an overwhelming infection of the blood which claims thousands of lives each year. view more (2009-10-26)
Exercise therapy best for knee pain
For patients with severe knee pain, supervised exercise therapy is more effective at reducing pain and improving function than usual care, finds a study published on bmj.com today. view more (2009-10-21)
No test needed for hand-foot genital syndrome in women without HOXA13 gene mutation
Hugh S. Taylor, M.D., professor in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale, and colleagues have found that women without mutations of the HOXA13 gene do not need to be subjected to x-rays and other tests for a rare condition called hand-foot genital syndrome. view more (2009-10-20)
New chromosomal abnormality identified in leukemia associated with Down syndrome
Researchers identified a new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that appears to work in concert with another mutation to give rise to cancer. This latest anomaly is particularly common in children with Down syndrome. view more (2009-10-19)
Gene mingling increases sudden death risk
A multi-national research team has discovered that two genetic factors converge to increase the risk of sudden cardiac death. view more (2009-10-13)
Hyper-SAGE boosts remote MRI sensitivity
A new technique in Magnetic Resonance Imaging dubbed "Hyper-SAGE" has the potential to detect ultra low concentrations of clincal targets, such as lung and other cancers. view more (2009-10-12)
Metabolic syndrome linked to liver disease in obese teenaged boys
Researchers studying a large sample of adolescent American boys have found an association between metabolic syndrome, which is a complication of obesity, and elevated liver enzymes that mark potentially serious liver disease. view more (2009-09-30)
BUSM researchers propose a relationship between androgen deficiency and cardiovascular disease
Researchers from Boston University School of Medicine (BUSM) in collaboration with researchers from Lahey Clinic Northshore, Peabody, Mass., believe that androgen deficiency might be the underlying cause for a variety of common clinical conditions, including diabetes, erectile dysfunction, metabolic syndrome and cardiovascular disease (CVD). view more (2009-09-28)
Scientists identify genetic cause of previously undefined primary immune deficiency disease
Researchers at the National Institutes of Health have identified a genetic mutation that accounts for a perplexing condition found in people with an inherited immunodeficiency. view more (2009-09-25)
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