Tag Archives: genetic defects

What is it About Your Face?

The human face is as unique as a fingerprint, no one else looks exactly like you. But what is it that makes facial morphology so distinct? Certainly genetics play a major role as evident in the similarities between parents and their children, but what is it in our DNA that fine-tunes the genetics so that siblings – especially identical twins – resemble one another but look different from unrelated individuals? A new study by researchers at the U.S. Department of Energy’s Lawrence Berkeley National Laboratory (Berkeley Lab) has now shown that gene enhancers – regulatory sequences of DNA that act to turn-on or amplify the expression of a specific gene – are major players in craniofacial development. (more…)

Read More

Scientists sequence genome of ‘sacred lotus,’ which likely holds anti-aging secrets

A team of 70 scientists from the U.S., China, Australia and Japan today reports having sequenced and annotated the genome of the “sacred lotus,” which is believed to have a powerful genetic system that repairs genetic defects, and may hold secrets about aging successfully. The scientists sequenced more than 86 percent of the nearly 27,000 genes of the plant, Nelumbo nucifera, which is revered in China and elsewhere as a symbol of spiritual purity and longevity.

“The lotus genome is an ancient one, and we now know its ABCs,” said Jane Shen-Miller, one of three corresponding authors of the research and a senior scientist with UCLA’s Center for the Study of Evolution and the Origin of Life. “Molecular biologists can now more easily study how its genes are turned on and off during times of stress and why this plant’s seeds can live for 1,300 years. This is a step toward learning what anti-aging secrets the sacred lotus plant may offer.” (more…)

Read More

UA Geneticists Find Causes for Severe Childhood Epilepsies

Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.

Researchers at the University of Arizona have successfully determined the genetic mutations causing severe epilepsies in seven out of 10 children for whom the cause of the disorder could not be determined clinically or by conventional genetic testing.

Instead of sequencing each gene one at a time, the team used a technique called whole-exome sequencing: Rather than combing through all of the roughly 3 billion base pairs of an individual’s entire genome, whole-exome-sequencing deciphers only actual genes, and nearly all of them simultaneously. (more…)

Read More