OGDEN -- New genetic science is allowing researchers to zero in on mutations that have left a tragic path through two families, including one in Ogden.
Dr. Gholson J. Lyon, a psychiatrist and principal investigator in the Center for Applied Genomics at The Children's Hospital in Philadelphia, is part of a research team that used a software tool called Variant Annotation, Analysis and Search Tool (VAAST) to identify the cause of an extremely rare X-linked genetic disorder that is lethal in infancy.
Lyon's team is calling the disorder Ogden Syndrome.
"Altogether, eight boys from two different families have died from this syndrome," Lyon said in a telephone interview Friday.
"We named it Ogden Syndrome in honor of the Utah family. It's extremely rare. Only two families in the world have been identified as having this illness, but I think we'll identify more in the future now that we've reported it."
Ogden Syndrome is characterized by heart rhythm abnormalities, an aged appearance and craniofacial abnormalities that include thin, wrinkled skin and large eyes.
In late 2009, Lyon met Halena Black and her family and drew blood for genetic testing.
According to an interview published in Nature News this week, Black, of Ogden, lost her first son, born in 1979, to the illness. In 1987, another son died from complications of Ogden Syndrome.
On Sunday, her grandson, 4-month-old Max Caleb Grondahl, of Ogden, lost his life to the illness. Max was also the grandson of Standard-Examiner editorial cartoonist Cal Grondahl.
"We didn't think that it passed on to the next generation. We didn't think that this would be a problem for us," Black said in the interview.
Using the VAAST software, created by University of Utah associate professor of human genetics Mark Yandell and Martin G. Reese, of informatics company Omicia Inc., Lyon and his team were able to identify the genetic mutation NAA10 responsible for Ogden Syndrome.
NAA10 encodes a protein that helps attach a chemical called acetyl groups to the ends of other proteins. In those with the mutated gene, NAA10 is slightly altered.
Lyon said the illness affects only boys because the protein lies on the X chromosome. Because boys have only one X chromosome, they are not protected in case of a mutation in the way a female, with two X chromosomes, would be.
Although other software tools have been shown to analyze personal genome sequences, Lyon said VAAST has been able to identify a previously unknown syndrome.
"That doesn't happen very often," he said. "We were able to get our answer very quickly using this software."
Lyon said there is no way to prevent Ogden Syndrome right now.
However, through pre-implantation genetic testing, a mother-to-be can be told whether she is a carrier.
"Until now, no one could tell them. It was a flip of the coin," Lyon said. "There is research to develop a drug to try and treat the condition, but that's years away from reality."
Lyon said, until then, those who discover they are carriers of the gene may decide they don't want to become pregnant.
"I'm just very excited I was able to help the family by finding the gene responsible for this dramatic and devastating condition," Lyon said.
"It's cool to be able to name our own disease and let the world know it exists and to help the family with carrier testing."
Lyon can be reached at lyong1@email.chop.edu.
He encourages people to become involved in the Utah Foundation for Biomedical Research.
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