Research
Interested in understanding how genetic variation contributes to both rare neurodevelopment disorders and common diseases.
Appointments
Associate Professor, Pathology & Laboratory Medicine and Human Genetics
Biography
Valerie Arboleda is a physician-scientist with a primary interest in understanding the genetic architecture of rare, monogenic and common complex disease. She has described novel genes associated with IMAGe Syndrome, KAT6A syndrome and Premature Ovarian Failure. She is a practicing molecular genetic pathologist, actively developing novel clinical diagnostic tests based on sequencing technologies. Her research laboratory studies the functional role of genetic variants, in human-based cell model systems using molecular biology, genomics and computational biology to identify how variants affect molecular and clinical phenotypes. Research interests include rare diseases, functional genomics, chromatin modifiers, and complex traits.
Publications
- Qian, K, Abhyankar, V, Keo, D, Zarceno, P, Toy, T, Eskin, E et al.. Systematic evaluation of 24 extraction and library preparation combinations for metagenomic sequencing of SARS-CoV-2 in saliva. bioRxiv. 2026; :. doi: 10.64898/2026.04.16.719115. PubMed PMID:42079121 PubMed Central PMC13131768.
- Thauland, TJ, Nagarajan, SS, Stephens, AV, Jensen, SL, Srivastava, A, Moreno Lastre, MA et al.. Th2 skewing in patients with disseminated coccidioidomycosis. JCI Insight. 2026; :. doi: 10.1172/jci.insight.199941. PubMed PMID:42012883 .
- Haas, R, Margolis, MP, Wei, A, Yamaguchi, TN, Feng, J, Tran, T et al.. Advancing precision health discovery in a genetically diverse health system. Cell. 2026;189 (9):2533-2555.e31. doi: 10.1016/j.cell.2026.03.007. PubMed PMID:41903539 .
- Thauland, TJ, Nagarajan, SS, Stephens, AV, Jensen, SL, Srivastava, A, Moreno Lastre, MA et al.. Type-2 immune skewing in patients with disseminated coccidioidomycosis. medRxiv. 2025; :. doi: 10.1101/2025.09.26.25336729. PubMed PMID:41040727 PubMed Central PMC12486045.
- Haas, R, Margolis, MP, Wei, A, Yamaguchi, TN, Feng, J, Tran, T et al.. Diverse Genomes, Shared Health: Insights from a Health System Biobank. medRxiv. 2025; :. doi: 10.1101/2025.06.11.25329386. PubMed PMID:40585105 PubMed Central PMC12204455.