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Jul 8, 2010 1:00 AM

In two separate studies, researchers in Lynn Jorde's human genetics lab sequenced for the first time the genome of an entire family, and also identified 10 genes that help Tibetan highlanders thrive in high elevations. Pictured here from left to right: Jinchuan Xing, Chad Huff, Lynn Jorde, David Witherspoon, and Tatum Simonson.

A follow-up study by Ila Singh suggests that HIV drugs may be effective in treating prostrate cancer and chronic fatigue syndrome.

Biomedical informatics professor Lisa Cannon-Albright and neurosurgeon William Couldwell collaborated on a recent study that found that the cause for some pituitary tumors may be genetic.

Jorde Lab Publishes Two Landmark Studies in Human Genetics  


Researchers in the lab of Lynn B. Jorde, Ph.D., professor and chairman of human genetics, recently published two landmark studies, one that sequenced for the first time the genome of an entire family and another that identified genes that help explain why Tibetans can live at high elevations without becoming sick. Both studies appeared in Science Express.

The first one, a multi-institution effort that appeared in March, sequenced the genome of a family of four–mother, father, daughter, and son–and concluded that each parent passes 30 genetic mutations to their children, far fewer than was thought. The study also identified precise locations where parental chromosomes exchange the information that creates new genetic traits in their offspring. Jorde was a senior author on the study and post-doctoral fellow in genetics Chad D. Huff, Ph.D., was a co-first author. 

In May, doctoral candidate Tatum S. Simonsen was first author on a study that identified 10 genes Tibetan highlanders apparently evolved to help them live at high elevations without becoming ill. The genes are related to processing oxygen, and two of the genes are strongly associated with hemoglobin, a molecule that transports oxygen in the blood. Unlike others who live at high elevations–the people who donated blood for the study live at more than 14,000 feet above sea level–Tibetans highlanders do not overproduce red blood cells in response to the lack of oxygen. This condition, called polycythemia, along with potentially life-threatening swelling in the brain and lungs, occurs in some people who live at lower elevations but find themselves at unaccustomed altitudes. Simonson, Jorde, and others on the study believed the 10 genes Tibetans evolved during thousands of years are related to their ability to not overproduce red blood cells or experience other elevation-related illnesses. 

 

Emergency Contraception Alternative Shown to Be Effective For Up to Five Days

In a study published in The Lancet, Jennifer Van Horn, M.D., assistant professor of obstetrics and gynecology, and other U.S. and European researchers showed that ulipristal acetate is an effective alternative to the most commonly used emergency contraception, levonorgestrel (marketed as Plan B®). The study found that ulipristal acetate can prevent pregnancy for up to five days after sexual intercourse, compared with Levonorgestrel, which is approved for use within three days after intercourse.


 HIV Drugs Might One Day Be Used to Treat  Prostrate Cancer and CFS

Certain drugs used to combat HIV also inhibit a retrovirus recently linked to prostate cancer and chronic fatigue syndrome (CFS), a study by Ila R. Singh, M.D., Ph.D., associate professor of pathology and associate medical director at ARUP laboratories, and a colleague at Emory University reported. The finding means that if the retrovirus XMRV (Xenotropic murine leukemia virus-related virus) is proved to cause prostate cancer or CFS, it’s possible some cases of those two illnesses might one day be treatable with drugs aimed at HIV, the researchers reported in April in PLoS One, an open-access journal published by the Public Library of Science (PLoS). The study follows one by Singh in September 2009 that was the first to identify XMRV in malignant human prostate cells.


 

Cause For Some Pituitary Tumors May Be Genetic

Almost one in every five people will get a tumor of the pituitary– the small hormone-secreting gland at the base of the brain that helps maintain the internal environment of the body – and for some the cause might be genetic. William T. Couldwell, M.D., Ph.D., professor and chairman of neurosurgery, and Lisa Cannon-Albright, Ph.D., professor of biomedical informatics, reported in the January edition of Pituitary that an analysis of 741 individuals diagnosed with benign or malignant pituitary tumors showed the average genetic closeness or “relatedness” among people with diagnosed pituitary tumors was significantly higher than expected. Couldwell and Cannon-Albright culled records from the Utah Population Database and Utah Cancer Registry and used a method called the genealogical index of familiarity to assess the genetic closeness of pairs of people with pituitary tumors. Their research showed that first- and third- degree relatives of people with pituitary tumors were at significantly greater risk of developing the disease than the general population.     

 


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