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HOUSTON -- (Oct. 18, 2014) – 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.

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. The study is being released to coincide with the American Society of Human Genetics annual meeting.

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. The study is being released to coincide with the American Society of Human Genetics annual meeting.

A new study published in Diabetologia (the journal of the European Association for the Study of Diabetes) shows that children who have been infected with enterovirus are 48% more likely to have developed type 1 diabetes. The study is by Dr Tsai Chung-Li, China Medical University, Taiwan, and colleagues.

MADISON — Over the past two decades, the resident communities of birds that attend eastern North America's backyard bird feeders in winter have quietly been remade, most likely as a result of a warming climate.

Writing this week in the journal Global Change Biology, University of Wisconsin-Madison wildlife biologists Benjamin Zuckerberg and Karine Princé document that once rare wintering bird species are now commonplace in the American Northeast.

PROVIDENCE, R.I. – Researchers from The Miriam Hospital have studied the effects of smoking during pregnancy and its impact on the stress response in newborn babies. Their research indicates that newborns of mothers who smoke cigarettes during pregnancy show lower levels of stress hormones, lowered stress response, and alterations in DNA for a gene that regulates passage of stress hormones from mother to fetus. The study and its findings have been published in the journal Psychoneuroendocrinology.

Rockville, MD – Accurate knowledge regarding Ebola is critical and pertinent for practicing physicians and clinicians given the current risk of hazardous global outbreak and epidemic. The Journal, Disaster Medicine and Public Health Preparedness has launched a special issue, Ebola Virus and Public Health, to surround the public, medical professionals and media with necessary knowledge in this critical societal moment.

Fairfax, Va., October 17, 2014—Image guided radiation therapy (IGRT) is a commonly used modality to ensure treatment accuracy in the management of pediatric tumors; however, consensus recommendations are needed in order to guide clinical decisions on the use of IGRT in treating pediatric patients, according to a study published in the September-October 2014 issue of Practical Radiation Oncology (PRO), the official clinical practice journal of the American Society for Radiation Oncology (ASTRO).

Athens, Ga. – The disruption of a person's circadian rhythm—their 24-hour biological clock—has been linked to an increased risk of breast cancer, according to new University of Georgia research. The culprit, in this study in particular, is artificial light.

"Exposure to artificial light leads to a significantly higher risk for developing breast cancer," said Chunla He, a biostatistics graduate student in the UGA College of Public Health. "To decrease the use of artificial light, people should avoid working at night and implement earlier bed times."

Why do male animals need millions of sperms every day in order to reproduce? And why are there two sexes anyway? These and related questions are the topic of the latest issue of the research journal Molecular Human Reproduction published today (Oct. 16th, 2014). The evolutionary biologist Steven Ramm from Bielefeld University Bielefeld has compiled this special issue on sperm competition. In nature, it is not unusual for a female to copulate with several males in quick succession – chimpanzees are one good example.

DNA analysis has become increasingly efficient and cost-effective since the human genome was first fully sequenced in the year 2001. Sequencing a complete genome, however, still costs around US$1,000. Sequencing the genetic code of hundreds of individuals would therefore be very expensive and time-consuming. In particular for non-human studies, researchers very quickly hit the limit of financial feasibility.

Sequencing Groups Instead of Individuals

Scientists have used computer simulations to show how bacteria are able to destroy antibiotics – a breakthrough which will help develop drugs which can effectively tackle infections in the future.

Researchers at the University of Bristol focused on the role of enzymes in the bacteria, which split the structure of the antibiotic and stop it working, making the bacteria resistant.

The new findings, published in Chemical Communications, show that it's possible to test how enzymes react to certain antibiotics.

Philadelphia, PA, October 16, 2014 – Traumatic spinal cord injury (SCI) is a devastating condition with few treatment options. Studies show that damage to the barrier separating blood from the spinal cord can contribute to the neurologic deficits that arise secondary to the initial trauma. Through a series of sophisticated experiments, researchers reporting in The American Journal of Pathology suggest that matrix metalloproteinase-3 (MMP-3) plays a pivotal role in disruption of the brain/spinal cord barrier (BSCB), cell death, and functional deficits after SCI.

Researchers from the University of Copenhagen have shown for the first time how bacteria can grow directly in the lungs of Cystic fibrosis patients, giving them the opportunity to get tremendous insights into bacteria behavior and growth in chronic infections.

The study also discovered the bacterial growth in chronic lung infections among cystic fibrosis (CF) patients was halted or slowed down by the immune cells. The researchers discovered the immune cells consumed all the oxygen and helped "suffocate" the bacteria, forcing the bacteria to switch to a much slower growth.

People who have suffered spinal cord injuries are often susceptible to bladder infections, and those infections can cause kidney damage and even death.

New UCLA research may go a long way toward solving the problem. A team of scientists studied 10 paralyzed rats that were trained daily for six weeks with epidural stimulation of the spinal cord and five rats that were untrained and did not receive the stimulation. They found that training and epidural stimulation enabled the rats to empty their bladders more fully and in a timelier manner.