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Science Current Events and Science News | Brightsurf | October 18, 2014


Whole exome sequencing closer to becoming 'new family history'
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.
New test scans all genes to ID single mutation causing rare disorders
A JAMA study found that sequencing the DNA of children with mystery genetic disorders produced a definitive diagnosis in 40 percent of UCLA's most complex cases -- a quantum leap from the field's 5-percent success rate 20 years ago.
Asbestos likely more widespread than previously thought
Naturally occurring asbestos minerals may be more widespread than previously thought, with newly discovered sources now identified within the Las Vegas metropolitan area.
Study examines type of exome sequencing and molecular diagnostic yield
In a sample of patients with undiagnosed, suspected genetic conditions, a certain type of exome sequencing method was associated with a higher molecular diagnostic yield than traditional molecular diagnostic methods, according to a study appearing in JAMA.
Whole-exome sequencing shows potential as diagnostic tool
Among a group of 2,000 patients referred for evaluation of suspected genetic conditions, whole-exome sequencing provided a potential molecular diagnosis for 25 percent, including detection of a number of rare genetic events and new mutations contributing to disease, according to a study appearing in JAMA.
Birth season affects your mood in later life
New research shows that the season you are born has a significant impact on your risk of developing mood disorders.
iPhones for eye health: Capturing ocular images in difficult-to-photograph patients
Smartphone technology is a widely available resource which may also be a portable and effective tool for imaging the inside of the eye, according to results of a study released today at AAO 2014, the 118th annual meeting of the American Academy of Ophthalmology.
Gene duplications associated with autism evolved recently in human history
Human geneticists have discovered that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, after the divergence of humans from ancient hominids, and likely plays an important role in disease.
Smartphone approach examining diabetic eye disease offers comparable results to traditional method
A smartphone-based tool may be an effective alternative to traditional ophthalmic imaging equipment in evaluating and grading severity of a diabetic eye disease, according to a study released today at AAO 2014, the American Academy of Ophthalmology's 118th annual meeting.
Could reading glasses soon be a thing of the past?
A corneal inlay device currently undergoing clinical review in the United States improved near vision well enough for 80 percent of the participating patients to read a newspaper without disturbing far distance vision needed for daily activities like driving.
Vitamin D deficiency increases poor brain function after cardiac arrest by sevenfold
Patients with vitamin D deficiency were more likely to have a poor neurological outcome or die after sudden cardiac arrest than those who were not deficient.
Researchers find why depression and aging linked to increased disease risk
New research shows that both aging and depression are associated with a biochemical change in a gene on chromosome 6, the FKBP5 gene.
Dick Swaab wins the 2014 ECNP Media Award
Europe's leading applied neuroscience association, the European College of Neuropsychopharmacology (ECNP) is pleased to announce that the winner of the 2014 ECNP Media Award is Dick Swaab, for his book, We are our Brains: From the Womb to Alzheimer's.

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