UCI Scientists Isolate Facial Disorder Gene

IRVINE —  A team of UC Irvine and British researchers have discovered the gene for a hereditary disorder that can cause severe facial anomalies and hearing loss, UCI officials announced Friday.

Chromosome research led by UCI biochemist John Wasmuth, who died in December, contributed to isolating the Treacher Collins gene, officials said. In his final complete work to be published, Wasmuth’s findings appear in the February issue of the science journal Nature Genetics.

“He should be here to enjoy this,” said Rita Shiang, who assisted Wasmuth in the gene research. “It’s a great memorial for him.”

UCI researchers, who worked closely with scientists at the University of Manchester, hailed the discovery as an important breakthrough.

“The gene discovery will make it possible for clinicians to make and confirm a diagnosis of Treacher Collins with much greater accuracy,” said Maureen Bocian, chief of the division of human genetics and birth defects in the department of pediatrics at UCI. “One aspect of this disorder is the extreme clinical variability. Even within the same family, one person may be severely affected, another only slightly so.”

Treacher Collins’ syndrome, which occurs in one in 50,000 births, is characterized by down-slanting eyes, notches on the lower eyelids, underdeveloped cheekbones, broad mouths, small chins and underdeveloped or missing ears.

The gene discovery may ultimately lead to a cure, but isn’t expected to do so for years, UCI scientists say.

“I don’t think this is something that will cure something any time soon,” Bocian said. “But on the other hand, it gives us the opportunity to see how the process works and see where [gene] development goes awry.”

Wasmuth, who was 49 when he died, was raised in a small Illinois farming community and became one of the world’s most prominent genetic researchers.

The Treacher Collins gene is one of six discovered by Wasmuth and a team of researchers at UCI. His research also played major roles in identifying genes that cause dwarfism and Huntington’s disease.

His death last year represents “an enormous loss to people who worked with him and to humanity,” Bocian said. “He was a brilliant researcher; he was an extremely open collaborator. He would share with anyone, which is extremely rare.”