Yale researchers recently received a DNA sample from Turkey of twin newborns whose brains weren't developing properly. The physician figured it was a genetic problem, but had no way of analyzing it further.

"We identified a mutation in the folic acid receptor of the brain," said Murat Gunel, professor of genetics and neurobiology, adding that it's a very rare abnormality that forms during pregnancy. Most problems with brain development, he said, don't have an easy cure. In this case, though, Gunel and his fellow researchers at Yale immediately called the physician in Turkey and instructed him to give the babies very high doses of folic acid, which reverses the problem.

It was one of the first cases handled in a four-university project designed to solve the mysteries of thousands of disorders caused by inherited single-gene mutations, known as Mendelian diseases, named for the Austrian botanist and monk Gregor Mendel. The four-year project is funded by a $48 million grant from National Institutes of Health grant awarded in December. The other recipients are researchers at the University of Washington and a collaborative team of researches from Baylor College of Medicine in Houston and Johns Hopkins University in Baltimore. Yale's share of the grant -- $11.2 million goes to the university's new Center for Mendelian Disorders.

By collecting and analyzing DNA samples of these disorders from around of the world, the researchers hope to shed some light on how to treat them. To coordinate, the researchers talk by phone every weeks and will meet in person three or four times a year.

"We're identifying the disease-causing mutations in as many genes and as many diseases as possible," Gunel said.

Single gene mutations cause thousands of diseases, about 3,000 of which are still unexplained. Individually, the diseases are fairly rare, but together affect some 25 million people in the U.S.

James Lupski, professor of molecular genetics at Baylor, said many of these diseases are more common in parts of the world where more children are born to parents who are related, which increases the risk of recessive genetic disorders.

This kind of work would have been nearly impossible just a few years ago, when it could take months and millions of dollars to map a human genome. Today, new technology can get the job done in days, and the next generation of machines promises to map an entire genome within 24 hours for $1,000. But there's still a matter of analyzing the data.

"It takes a couple of months to do analysis," said Shrikant Mane, who runs the Center for Genome Analysis at Yale. "It's one thing to generate the data, but then the rest of it is analysis."

The Yale researchers will make use of exome sequencing, a process developed at Yale that selectively sequences the region of the genome that contains genes that code for proteins.

Read more from the original source:
Unlocking The Mysteries Of Single Gene Mutations