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Gene duplications associated with autism evolved recently in human history

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. Their findings were presented at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. Researchers at the University of Washington analyzed the genomes of 2,551 humans, 86 apes, one Neanderthal, and one Denisovan Continue reading

Mutation associated with cleft palate in humans, dogs identified

Mutation associated with cleft palate in humans, dogs identified

Scientists studying birth defects in humans and purebred dogs have identified an association between cleft lip and cleft palate — conditions that occur when the lip and mouth fail to form properly during pregnancy — and a mutation in the ADAMTS20 gene. Continue reading

Children’s genes affect their mothers’ risk of rheumatoid arthritis

Children’s genes affect their mothers’ risk of rheumatoid arthritis

A child’s genetic makeup may contribute to his or her mother’s risk of rheumatoid arthritis, possibly explaining why women are at higher risk of developing the disease than men. This research will be presented October 21, at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. Rheumatoid arthritis, a painful inflammatory condition that primarily affects the joints, has been tied to a variety of genetic and environmental factors, including lifestyle factors and previous infections. 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. 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