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
- 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.
- Wei, A, Border, R, Fu, B, Cullina, S, Brandes, N, Jang, SK et al.. Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions. Nat Commun. 2025;16 (1):5223. doi: 10.1038/s41467-025-60339-7. PubMed PMID:40473624 PubMed Central PMC12141715.
- Palafox, MF, Boatner, L, Wilde, BR, Christofk, H, Backus, KM, Arboleda, VA et al.. Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids. Am J Hum Genet. 2025;112 (7):1649-1663. doi: 10.1016/j.ajhg.2025.04.017. PubMed PMID:40412387 PubMed Central PMC12256893.
- Bondhus, L, Nava, AA, Liu, IS, Arboleda, VA. Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners. Epigenetics Chromatin. 2025;18 (1):8. doi: 10.1186/s13072-025-00571-z. PubMed PMID:39893491 PubMed Central PMC11786378.