Nemours Researchers find rare immune deficiency and leukemia pre-disposition mutation in research LRFDE helped to fund

In a manuscript published April 24th, 2019 Nemours Researchers Erin L. Crowgey, Michael C. Washburn, E. Anders Kolb and Eric G. Puffenberger, displayed their breakthrough findings.

Using advanced genomic testing for carrier and newborn screening in the Delaware and PA Amish/Mennonite communities they identified a rare, not previously described, immune deficiency and leukemia pre-disposition mutation in a Delaware Amish baby. She has since received a transplant, and now has no leukemia risk and a normal immune system. There are some rare diseases seen in these communities that researchers and doctors can now pick up at birth to prevent life-threatening and life-altering side effects. 

The Leukemia Research Foundation of Delaware was sited in the acknowledgements as helping to fund this ground breaking research. As always, it is our honor to help fund the research of such brilliant, dedicated scientists like those at Nemours.


“We thank Drs. Kevin Strauss, Michael Fox, and Matthew Demczko for manuscript editing and scientific discussions; the Leukemia Research Foundation of Delaware and the Nemours Center for Cancer and Blood Disorders for funding this work; and the Nemours Biomedical Research Department for supporting E.L.C.”

To read the manuscript please click here.