The Gene Variant That Predicts
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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