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New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

Audrey Lapidus adored her baby’s sunny smile and irresistible dimples, but grew worried when Calvin did not roll over or crawl by 10 months and suffered chronic digestive problems. Four neurologists dismissed his symptoms and a battery of tests proved inconclusive. Desperate for answers, Audrey and her husband agreed to have their son become UCLA’s first patient to undergo a powerful new test called exome sequencing. Continue reading

New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

Audrey Lapidus adored her baby’s sunny smile and irresistible dimples, but grew worried when Calvin did not roll over or crawl by 10 months and suffered chronic digestive problems. Four neurologists dismissed his symptoms and a battery of tests proved inconclusive Continue reading

Improving bladder function among people with spinal cord injuries

Improving bladder function among people with spinal cord injuries

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. Continue reading

Physicists sound warning to ‘nail beauty fanatics’

Physicists sound warning to ‘nail beauty fanatics’

The daily trimming of fingernails and toenails to make them more aesthetically pleasing could be detrimental and potentially lead to serious nail conditions. This is according to researchers at the University of Nottingham who have devised equations to identify the physical laws that govern nail growth, and used them to throw light on the causes of some of the most common nail problems, such as ingrown toe nails, spoon-shaped nails and pincer nails Continue reading

Cystic Fibrosis lung infection: Scientists open black box on bacterial growth

Cystic Fibrosis lung infection: Scientists open black box on bacterial growth

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. Continue reading

High-speed evolution in the lab: Geneticists evaluate cost-effective genome analysis

High-speed evolution in the lab: Geneticists evaluate cost-effective genome analysis

Life implies change. And this holds true for genes as well. Organisms require a flexible genome in order to adapt to changes in the local environment. Continue reading

Presence of enzyme may worsen effects of spinal cord injury and impair long-term recovery

Presence of enzyme may worsen effects of spinal cord injury and impair long-term recovery

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. Continue reading

Cellular self-destruct program has deep roots throughout evolution

Cellular self-destruct program has deep roots throughout evolution

In what seems like a counter-intuitive move against survival, within animals, some cells are fated to die from the triggering of an elaborate cell death program, known as apoptosis. Now, Sakamaki et. al., have honed in on understanding the evolution of caspase-8, a key cell death initiator molecule that was first identified in humans Continue reading

Sugared soda consumption, cell aging associated in new study

Sugared soda consumption, cell aging associated in new study

Sugar-sweetened soda consumption might promote disease independently from its role in obesity, according to UC San Francisco researchers who found in a new study that drinking sugary drinks was associated with cell aging. The study revealed that telomeres — the protective units of DNA that cap the ends of chromosomes in cells — were shorter in the white blood cells of survey participants who reported drinking more soda. Continue reading

Scientists find ‘hidden brain signatures’ of consciousness in vegetative state patients

Scientists find ‘hidden brain signatures’ of consciousness in vegetative state patients

Scientists in Cambridge have found hidden signatures in the brains of people in a vegetative state, which point to networks that could support consciousness even when a patient appears to be unconscious and unresponsive. Continue reading