University of Miami Miller School of Medicine
Miami, Florida, United States
I am a Research Assistant Professor in Cancer Genetics, with a primary focus on genomic profiling of nervous system tumors, both sporadic and syndromic. During my academic journey, I gained hands-on experience in biology, conducting experiments like molecular cloning and functional phenotyping of genetically modified mouse models. These experiences deepened my understanding of molecular and genetic processes within biological systems.
Following my PhD, I transitioned to Bioinformatics research, where my passion lies in computational processing and statistical analysis of biological data generated through high-throughput sequencing technologies. My work encompassed large-scale genomics and gene expression analyses, shedding light on how toxic substances impact biological functions and unveiling molecular mechanisms behind genetic diseases, including cancer.
For the past seven years, my research has been centered around identifying molecular drivers of tumor initiation and progression in the nervous system, particularly focusing on sporadic and Neurofibromatosis 1 (NF-1) associated glioma. Recognizing that tumor heterogeneity contributes to treatment resistance and disease progression in glioma, my research employs a comprehensive computational approach that integrates multiple molecular profiles, including genetic mutations, DNA copy number changes, gene expression, and methylation patterns.
A significant milestone in my career was the publication of a comprehensive genetic and epigenetic map of NF-1 glioma in Nature Medicine in 2019. This pioneering work represented a landmark in brain cancer and Neurofibromatosis research, providing critical insights.
In my most recent study, published in Nature Communications (Leland, D’Angelo, 2023), I analyzed a multi-regional glioma cohort to model intra-tumoral evolution by profiling specimens from various regions, including non-enhancing areas where tumors often recur.
In the past year, my research has been focused on the genomic profiling at the individual cell level of longitudinal glioblastoma samples. I am using innovative PTA single-cell WGS analysis to reach the highest resolution in reconstructing brain cancer molecular evolution.