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Parents of children with autism curtail reproduction after signs of disorder

Parents of children with autism spectrum disorder (ASD) appear to curtail attempts to have more children after the first signs of the disorder manifest or a diagnosis is made.

ASD is a complex neurodevelopmental disorder. Few studies have focused on reproductive stoppage by parents after a child is diagnosed with ASD or symptoms appear.

Families with an autistic child are a third less likely to have more kids

Parents who have a child with autism spectrum disorder (ASD) are about one third less likely to have more children than families without an affected child, according to a study led by a UC San Francisco researcher.

New report offers a primer for doctors' use of clinical genome and exome sequencing

Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed illnesses—particularly rare childhood diseases—is moving from research laboratories into general medical practice. Now, two leading scientists have sketched out what doctors need to know in order to use the new technology effectively.

"This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., Ph.D. "Its authors lay out an approach for physicians to follow when using these exciting new technologies."

Genomic technology enters the mainstream practice of medicine

BOSTON, MA – Clinical genome and exome sequencing (CGES) was once deemed exotic, but is increasingly being used by clinical geneticists and other specialists to diagnose rare, clinically unrecognizable, or puzzling disorders that are suspected to be genetic in origin. Several thousand CGES tests across the country have already been ordered for patients and thousands more are expected in coming years. CGES is quickly moving from research laboratories into clinical medical practice, across all specialties.

Broken gene found to protect against heart disease

Cambridge, Mass. Wed. June 18, 2014 – By scouring the DNA of thousands of patients, researchers at the Broad Institute, Massachusetts General Hospital, and their colleagues have discovered four rare gene mutations that not only lower the levels of triglycerides, a type of fat in the blood, but also significantly reduce a person's risk of coronary heart disease — dropping it by 40 percent. The mutations all cripple the same gene, called APOC3, suggesting a powerful strategy in developing new drugs against heart disease.

Genomic 'dark matter' of embryonic lungs controls proper development of airways

PHILADELPHIA – It's a long way from DNA to RNA to protein, and only about two percent of a person's genome is eventually converted into proteins. In contrast, a much higher percentage of the genome is transcribed into RNA. What these non-protein-coding RNAs do is still relatively unknown. However, given their vast numbers in the human genome, researchers believe that they likely play important roles in normal human development and response to disease.

New research can improve heart health

Danish researchers from the University of Copenhagen and Rigshospitalet have shown that people with variation in a gene that inhibits a specific protein in the blood – the so-called apolipoprotein C3 – have a significantly lower level of normal blood lipids than people without this gene variation. Furthermore, the same individuals also have a 41 per cent lower risk of arteriosclerosis.

Columbia Engineering team finds thousands of secret keys in Android apps

New York, NY—June 18, 2014—In a paper presented—and awarded the prestigious Ken Sevcik Outstanding Student Paper Award—at the ACM SIGMETRICS conference on June 18, Jason Nieh, professor of computer science at Columbia Engineering, and PhD candidate Nicolas Viennot reported that they have discovered a crucial security problem in Google Play, the official Android app store where millions of users of Android, the most popular mobile platform, get their apps.

Quest for education creating graying ghost towns at top of the world

Ethnic Tibetan communities in Nepal's highlands are rapidly shrinking as more parents send their children away for a better education and modern careers, a trend that threatens to create a region of graying ghost towns at the top of the world, according to a study that includes Dartmouth College.

False negative results found in prognostic testing for breast cancer

A recent study evaluating HER2 testing in a large cohort of women with breast cancer found important limitations in the conventional way HER2 testing is performed in the US and internationally.

Demand for diabetes, thyroid care outpaces supply of endocrinologists

Washington, DC—As more people are diagnosed with diabetes and other hormone conditions, a growing shortage of endocrinologists could force patients to wait longer to see a doctor, according to a new Endocrine Society workforce analysis published in the Journal of Clinical Endocrinology & Metabolism (JCEM).

Endocrinologists are specially trained physicians who diagnose diseases related to the glands. They specialize in treating diabetes, obesity, osteoporosis, thyroid disorders, adrenal diseases, and a variety of other conditions related to hormones.

New Stanford blood test identifies heart-transplant rejection earlier than biopsy can

Stanford University researchers have devised a noninvasive way to detect heart-transplant rejection weeks or months earlier than previously possible. The test, which relies on the detection of increasing amounts of the donor's DNA in the blood of the recipient, does not require the removal of any heart tissue.

Maybe birds can have it all: Dazzling colors and pretty songs

ITHACA, N.Y. – A study of one of the world's largest and most colorful bird families has dispelled a long-held notion, first proposed by Charles Darwin, that animals are limited in their options to evolve showiness. The study – the largest of its kind – was published today in the Proceedings of the Royal Society B.

Breathalyzer test may detect deadliest cancer

Lung cancer causes more deaths in the U.S. than the next three most common cancers combined (colon, breast, and pancreatic). The reason for the striking mortality rate is simple: poor detection. Lung cancer attacks without leaving any fingerprints, quietly afflicting its victims and metastasizing uncontrollably – to the point of no return.

Scripps Research Institute scientists reveal molecular 'yin-yang' of blood vessel growth

LA JOLLA, CA—June 18, 2014 —Biologists at The Scripps Research Institute (TSRI) have discovered a crucial process that regulates the development of blood vessels. The finding could lead to new treatments for disorders involving abnormal blood vessel growth, including common disorders such as diabetic retinopathy and cancer.