VWD patient-derived endothelial cells isolated from human peripheral blood are plated into a micro-chamber to detect defects in the storage , release , and function of VWF after stimulation with phorbol 12-myristate 13-acetate . Cells pictured are stained for VWF ( yellow ), nuclei ( teal ), and CD31 ( blue ).
LEUKEMIA world , including laboratories in Utah , Michigan , Canada , and Italy , we would not have been able to find these mutations .”
“ Their work demonstrates how a multidisciplinary approach can strengthen our knowledge and expand the field ,” says Lia Gore , MD , Chief of Pediatric Oncology . “ It also helps explain a previously unidentified genetic disorder that has allowed us to better watch patients who might be at risk .”
Dr . Di Paola and his colleagues published their findings in Nature Genetics in 2015 . Other studies with similar findings were published at the same time . A more recent study showed that ETV6 germline mutations are common in up to 1 percent of individuals with ALL .
Today , Dr . Di Paola and collaborators at Emory University , and in Colorado and Utah , are working to understand the molecular mechanisms of this disease through a newly generated mouse model to further study the gene mutation and its effects on blood .
Why is von Willebrand disease worse for some and not others ?
Dr . Di Paola has been asking himself this question for the last 20 years . He studies von Willebrand disease ( VWD ), the most common bleeding disorder among adults and children , characterized by highly variable symptoms , even within members of the same family .
Scientists have long understood the genetic basis of VWD . But , according to Dr . Di Paola , they still don ’ t understand why , among those who have moderate to mild disease , some bleed more severely than others .
Dr . Di Paola and his team are conducting one of the largest studies in the world to understand the complexities of the genetics and biology of the disease . Their study included an Amish family with 2,000 members , from which he collected 900 samples over the last decade .
Using modern genomic techniques , his team made a multi-gene array where , “ It appears there might be a combination of gene variants that might make you more susceptible to bleeding ,” Dr . Di Paola says .
Identifying those genes could help target treatment for patients with VWD , adjusting as necessary to prevent bleeding complications .
“ When it comes to most common forms of VWD , we were all still in the dark ages ,” says Dr . Di Paola . “ With this genetic array we made , we hope we are starting to understand the genetic underpinnings that make this disease so variable .”
11
CANCER