Genetic finding offers hope for orphan disease

June 22, 2011

New research conducted at UNC Lineberger Comprehensive Cancer Center, offers hope for people with a rare disorder called Chuvash polycythemia.

Polycythemia is a disease characterized by excessive production of . Symptoms include an enlarged spleen, , an increased risk of stroke, and in some cases the disease is a precursor to . While 95 percent of polycythemia cases are associated with a mutation in the JAK2 gene, a small number of patients have a mutation in the von Hippel-Lindau gene that produces a protein called pVHL.

"It was thought that these two types of polycythemia would need treatments targeting different ," says William Kim, MD, one of the study authors and a member of UNC Lineberger Comprehensive Cancer Center. Kim is an assistant professor of Medicine and Genetics at UNC-Chapel Hill.

"We found that – despite their different origins – both types of disease display activation of JAK2. This is exciting because there are JAK2 inhibitors in late stage clinical trials that look promising for patients with JAK2 mutant polycythemia. Our work in laboratory models shows that inhibition of JAK2 is an effective strategy for both types of the disease. Under normal circumstances, the small number of people with a Chuvash VHL mutation would make this type of polycythemia an orphan disease. There are simply not enough patients to make the development of a targeted treatment worthwhile for pharmaceutical companies," he added.

The study results were published earlier this week in the journal Nature Medicine.

Kim cautions that, while the JAK2 inhibitors look very promising in laboratory models of Chuvash polycythemia, they have not yet been tested in humans.

Related Stories

Recommended for you

Gene variant activity is surprisingly variable between tissues

August 21, 2017
Every gene in almost every cell of the body is present in two variants called alleles—one from the mother, the other one from the father. In most cases, both alleles are active and transcribed by the cells into RNA. However, ...

Genome analysis with near-complete privacy possible, say researchers

August 17, 2017
It is now possible to scour complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry, say Stanford University researchers.

Science Says: DNA test results may not change health habits

August 17, 2017
If you learned your DNA made you more susceptible to getting a disease, wouldn't you work to stay healthy?

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders

August 16, 2017
Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and ...

Phenotype varies for presumed pathogenic variants in KCNB1

August 16, 2017
(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.