A family in Utah has made medical history.
They are the first in the world to have their entire genome sequenced.
Scientists examined each of their 22,000 genes in a successful effort to find the cause of their disease.
The breakthrough helped them understand some mysterious health problems that plagued their family.
Simple tasks take longer for Heather and her brother Logan. They both have Miller syndrome, an extremely rare disorder that causes face and limb malformations.
Heather and Logan also have a lung disorder known as PCD. But both their parents are healthy. That is what led them to be scientific trailblazers, the first family in the world to have their entire genetic code sequenced. Now, they know for sure that their problems are genetic.
"It's given us peace. It's given us answers,” Debbie Jorde, mom, said.
"I was really happy. Finding out that Miller syndrome is genetic helped resolve some feelings of not belonging,” Heather Madsen said.
Dr. Lynn Jorde is pioneering the family’s journey with many other scientists. He is Debbie's husband, the children's stepfather. Dr. Jorde's team worked about a year to pinpoint the recessive genes from each parent that caused the kids' disease. They were able to identify two genes that were the culprits. Jorde said this is often the first step toward finding the cure.
"And you can't really figure out how to fix something until you know what's really broken,” Dr. Jorde said.
The discovery does not change life or treatment for Heather or Logan, but making medical history is certainly something.
"It's great to have that place in the world, that my existence has a marker, a permanent marker,” Logan said.
Only about 30 people in the world are known to have Miller syndrome. The chance of Heather and Logan having it and their lung disorder is said to be one in 10 billion.
In 2009, it cost about $25,000 to get a person's genome sequenced.
Today, the cost is below $5,000 per person.
Researchers believe family sequencing could one day become a normal part of a person's medical history records.
GENOME SEQUENCING: Genome sequencing is a process that detects the complete DNA sequence of an organism's genome at a single time. Sequencing a patient's genome, the entirety of an organism's hereditary information, to find the genetic cause of an inherited disease has just been proven to be a clinical approach in a new era of medicine. A family in Utah has recently used genome sequencing to determine the cause of a rare disease.
THE FAMILY: Heather and Logan Madsen have been involved in trailblazing research that maps their entire DNA. Heather and Logan, as well as their mother and father, have had their genomes mapped in hopes of determining the cause of their illnesses, which they have been living with their entire lives.
THE DISORDERS: Heather and Logan both have Miller syndrome, a disease that causes limb malformations and facial disfigurement. Only about 30 people in the world are known to have Miller syndrome. Heather and Logan also have a lung disorder called primary ciliary dyskinesia (PCD) in which hair-like structures that sweep mucus from the lungs fail to move properly. The odds of one person having both Miller syndrome and the lung disease were less than one in 10 billion.
FINDINGS: Scientists from the University of Washington, the University of Utah and the Institute for Systems Biology helped the family on their pioneering journey. They worked for about one year to pinpoint the recessive genes from each parent that caused the kids' disease. They were able to identify two gens that were the culprits. The researchers also found each parent passes 30 mutations to their offspring -- for a total of 60. Prior to this study, most scientists thought each parent passed 75 mutations to their children. The researchers say a big bonus to sequencing the entire family is that they can identify errors in the DNA and increase the accuracy of their data when they compare it to other family members. They say family sequencing could one day become a normal part of a person's medical history records.
COST: In 2009, the cost to have a person's genome sequenced was about $25,000. Today, it is below $5,000 per person.
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Author, Eight Fingers and Eight Toes: Accepting Life's Challenges