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Utah study is first to map genome of entire family

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SALT LAKE CITY -- A landmark study at the University of Utah is the first to examine the genome of an entire family. This new research lets scientists learn more about mutations that are passed from parents to children and has broad implications for our understanding of disease.

At a University of Utah genetics lab, breathtaking discoveries are becoming almost routine. A decade ago scientists first mapped out the human genome, the roughly 22,000 genes found in everyone: the genetic blueprint for life.

Everybody as about 22,000 genes, which contain the genetic blueprint for human life. This blueprint, called DNA, comprises more than 3 billion base pairs that determine genetic makeup.

Now researchers like Dr. Lynn Jorde are going farther.

"This is the first time that an entire family has had their entire DNA sequence determined," said Jorde, chair of Department of Human Genetics.

Wanting to learn about genetic disorders, researchers mapped out one family's genes. The parents had no genetic abnormalities, but their son and daughter carried recessive genes resulting in both being born with two rare conditions: Miller's syndrome and something known as PCD.

The odds of that are less than one in 10 billion.

"They now know how the disease is transmitted in their family," Jorde said. "They have a better idea of their risk of transmitting it to their offspring."

Post-Doctoral Fellow Chad Huff, Ph.D., said, "The fact that we can take one family and find a really rare genetic disease gives hope to the idea that we can find much more common diseases when we have everyone's genomes. Whether or not that's true remains to be seen, but I think there's a good chance a lot of future diagnosis will be based on genetic data alone."

Researchers estimate that each parent passes 30 mutations, for a total of 60, to their offspring. Scientists have long estimated that each parent passed 75 gene mutations to their children.

The study helped calculate the rate mutations are passed from parent to child. Most mutations have no consequence for a child's health, but knowing the rate at which parents pass on mutations to their offspring is critical information.

"We think it will even be useful in helping to understand the causes of diseases like diabetes, various cancers, heart disease," Jorde said.

Mapping the entire human genome cost $3 billion. Now, a person can map their DNA for $10,000, ensuring more remarkable discoveries to come.


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John Daley


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