The Gene Variant That Predicts
WHO COULD GET
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Jorge Di Paola, MD, Medical Director of Pediatric Hematology at the Center for Cancer and Blood Disorders at Children’ s Hospital Colorado, and his colleagues have discovered a gene variant not previously described in humans. The rare familial gene defect causes low platelet counts and makes carriers more susceptible to acute lymphoblastic leukemia( ALL).
Dr. Di Paola’ s research laboratory found the gene defect, a mutation in the gene ETV6, when they began gathering DNA from families from all over the world to try to better understand how people can have low platelets and a predisposition to ALL. For example, in Detroit, he and his colleagues sequenced 11 members of one family with the disease. Two first cousins in the family had the disease; since first cousins share approximately 6 percent of their DNA, this allowed Dr. Di Paola’ s team to narrow the search area for the mutated gene.
“ So we focus on the parts of the genome they had in common to find this potential platelet / leukemia gene,” Dr. Di Paola says. Of the many families Dr. Di Paola and his colleagues have studied, they found just one variant, one single change in the DNA sequence of the gene ETV6, that was common to those affected with leukemia who also had low platelets.
A mutation in ETV6 does not appear to be sufficient to cause leukemia, but puts those who have it at higher risk of developing the disease. Identifying the gene mutation could lead to a better understanding of the disease and perhaps improve early detection and prevention.
An expert in hematology and genetics, Dr. Di Paola leaned on collaborators Ken Jones, PhD, a bioinformatics researcher at the Center for Cancer and Blood Disorders, and Chris Porter, MD, and Alisa Lee-Sherick, MD, both physician-scientists at the University of Colorado, for their expertise in leukemia. They are also working in collaboration with scientists at University of Toronto and the University of Utah.
“ You cannot do science alone,” Dr. Di Paola says.“ If it wasn’ t for our collaboration with the Porter and Lee-Sherick labs, and other scientists in the