Children with Down Syndrome, caused by an extra copy of chromosome 21, face a staggering 150-fold higher risk of leukemia by age 5, with early blood abnormalities already present by birth. But why do these health challenges, including heightened cancer risk, occur? By analyzing over 1 million single cells through multi-omics technologies—including scRNA-seq, multiome (paired scATAC-seq and scRNA-seq), and spatial transcriptomics— Dr. Marderstein's team have created the most detailed map yet of fetal blood development. This data reveals how inherited genetic changes reshape blood cell development, setting the stage for cancer before any cancer-driving mutations emerge.

Dr. Andrew Marderstein is a Research Fellow at Memorial Sloan Kettering Cancer Center in the Clinical Genetics Service, where his research focuses on uncovering the cellular and molecular mechanisms driven by inherited genetic factors. Previously, he was a Dean's Postdoctoral Fellow at Stanford University with Stephen Montgomery and completed his PhD in the Tri-Institutional Computational Biology & Medicine Program at Weill Cornell Medicine with Olivier Elemento and Andy Clark.