A Day to Recognize Rare Diseases and Raise Awareness of Critical Need For Gene Sequencers in U of U Genetics Research

A Day to Recognize Rare Diseases and Raise Awareness of Critical Need For Gene Sequencers in U of U Genetics Research

Feb 29, 2012 9:01 AM

2-29-12_Rare Diseases(SALT LAKE CITY)—Four-year-old Bertrand Might has a genetic disease so rare it doesn’t even have a name yet.

But his mother Cristina Might believes advances in human genetics research can help find both the cause of and cure for not only her son’s condition but also for many other genetic disorders. The students at Bertrand’s school, Ensign Elementary in Salt Lake City, believe that too, and on Wednesday—which is Leap Day and World Rare Diseases Day—wore denim ribbons, jeans, and the color blue to help raise awareness about diseases that affect millions of Americans and others worldwide. 

The theme of the day “Wear Jeans for Genes” also recognized the need for the University of Utah’s George and Dolores Eccles Institute of Human Genetics to acquire new gene sequencers, which have become critical technology in identifying causes of rare genetic diseases.

“Because of gene sequencing, our family is finally learning some answers about our son’s condition, and we know there are many other people who can benefit in this way,” said Cristina Might, Bertrand's mother. “But for the promise of gene sequencing to truly be fulfilled, world-class research institutions such as the University of Utah need the best technology to conduct their work. That’s why it is so important that gene sequencers, along with the staff to use them, be made available.”

The National Organization of Rare Diseases (NORD) identifies a rare disease as one that affects fewer than 200,000 Americans. The National Institutes of Health estimates there are nearly 7,000 such diseases that affect one in 10—or 30 million people in the United States. Approximately 30 percent of people with rare diseases are children who die before their fifth birthday.

Gene sequencing has become critical in worldwide research to unravel genetic conditions. By sequencing the genes of individuals and their families, researchers can pinpoint individual mutations responsible for genetic diseases, providing long-sought answers for families and opening potential avenues for drug therapies. In March 2010, University of Utah geneticists joined with several other institutions to sequence for the first time the gene of an entire family, whose son and daughter have two extremely rare genetic diseases passed through recessive genes in each of their parents.

While the cost of sequencing the human gene was more than $1 billion dollars in the Human Gene Project, gains in technology have brought the price down to about $10,000 for an individual human sequence today. Many researchers believe the cost is poised to drop even further.

The George and Dolores Eccles Institute of Human Genetics is one of the world’s leading institutions in researching genetic causes of disease. But the U of U currently has only two gene sequencers, meaning U researchers often have to wait months to use it or else pay other institutions to do it for them more quickly. But to acquire more gene sequencers, along with expert staff to run them, is expensive, with the machines alone costing about $750,000 each.

Those interested in donating to help the George and Dolores Eccles Institute of Human Genetics acquire more gene sequencers and expert staff can contact Jared Perry of the U of U Health Sciences Development Office at jared.perry@hsc.utah.edu.

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Media Contacts

Jared Perry
Director , University of Utah Health Sciences Development
Email: jared.perry@hsc.utah.edu
Cristina Might

Phone: (404) 358-2192
Phil Sahm
Public Relations Specialist , University of Utah Health Sciences Public Affairs
Phone: (801) 581-2517
Email: phil.sahm@hsc.utah.edu

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