Pathology and Laboratory Medicine
Bioinformatics GPB Home Area,
Gene Regulation GPB Home Area,
Genetics & Genomics GPB Home Area
Our research lab is broadly interested in leveraging genomic tools to understanding how both rare and common human genetic variation cause human disease. As the sequencing technology as matured, one of the major challenge in genomics is interpretation of the majority of the DNA base pairs that are sequenced within an individual. Interpreting how the DNA code influences human disease and is an important next step in integration of research findings into the clinical setting. The lab leverages a bidirectional approach. First, we are interested in rare genetic syndromes caused by genetic changes in genes that function to organize DNA through chromatin modification. The lab leverages functional genomic approaches (RNA-seq, ChIP-seq, methylation-seq) to 1) understand how rare deleterious mutations in chromatin modifiers affect downstream pathways and human development in a cellular model system, 2) identify modifiers of disease severity and 3) prioritize putative drug targets. Second, we are also interested in the shared genetic basis of monogenic and complex diseases. We are using existing large scale GWAS data sets to better identify and interpret findings by leveraging the extremes of the phenotypic spectrum (monogenic/Mendelian disease).
Dr. Arboleda is an Assistant Professor of Pathology and Lab Medicine at the David Geffen School of Medicine at UCLA. Dr. Arboleda graduated from the UCLA Medical Student Training Program (MSTP) with a Ph.D in Human Genetics and an MD in 2014. She went on to complete residency training in clinical pathology with an emphasis in molecular genetic pathology in the Department of Pathology and Laboratory Medicine at UCLA. In 2017, Dr. Arboleda was awarded the NIH Director’s Early Independence Award (DP5), which provides independent research funding to young scientists to start independent research careers without formal post-doctoral training. She has also received awarded the Daljit S. and Eliaine Sarkaria Fellowship, the Emil Bogen Research Prize, Leslie and Susan Gonda Fellowship, and the Charles J. Epstein Pre-doctoral Award for Excellence in Human Genetics Research from ASHG. She joined the faculty as an assistant professor in Pathology and Laboratory Medicine in January, 2018, with clinical duties in the molecular diagnostics laboratory and clinical genomics.
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