The Genome Family: Making Medical History | Medical News and Health Information

Reported August 19, 2011

The Genome Family: Making Medical History -- Research Summary

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. MORE ► The Genome Family: Making Medical History -- Research Summary | Medical News and Health Information: "- Enviado mediante la barra Google" and ► The Genome Family: Making Medical History | Medical News and Health Information: "- Enviado mediante la barra Google"

FOR MORE INFORMATION, PLEASE CONTACT:
Debbie Jorde
Author, Eight Fingers and Eight Toes: Accepting Life's Challenges
eightfingerseighttoes@gmail.com
http://blog.debbiejorde.com

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