Bio

Jeffrey Sagun, B.S., is a REACH Postbaccalaureate Scholar at Stanford Medicine's Department of Dermatology. He was born and raised in Chicago. He received his B.S. in Neuroscience from Trinity College–Hartford in 2021 and was a Posse Foundation Scholar. He then spent three years training at the NIH/NCI as a NIH Academy Enrichment Program Scholar and Postbac CRTA Research Fellow, studying neurological disease in xeroderma pigmentosum patients. He is currently interested in studying the clinical characteristics and genetic causes of rare or complex disease patients.

Honors & Awards

  • Stanford REACH Postbaccalaureate Research Scholar, Stanford University School of Medicine (2024-2025)
  • NIH Cancer Research Training Award (CRTA) Fellowship, National Cancer Institute (2022-2024)
  • NIH Clinical Center CEO Innovation Award, National Institutes of Health (2022)
  • NIH Academy Enrichment Program (NAEP) Scholar, National Institutes of Health (2021-2022)
  • NIH Intramural Research Training Award (IRTA) Fellowship, National Institutes of Health (2021-2022)
  • Posse Foundation Full-Tuition Leadership Scholarship, Trinity College (2017-2021)

Contact

  • Work
    sagunjp@stanford.edu
    University - Staff Department: EPS - Diversity, Equity & Inclusion Position: REACH Postbaccalaureate Scholar

Additional Info

All Publications

  • Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients. PLoS genetics Sagun, J. P., Khan, S. G., Imoto, K., Tamura, D., Oh, K. S., DiGiovanna, J. J., Kraemer, K. H. 2024; 20 (12): e1011265

    Abstract

    Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by pathogenic variants in seven nucleotide excision repair genes (XPA to XPG) and POLH involved in translesion synthesis. XP patients have a >1000-fold increased risk for sunlight-induced skin cancers. Many Japanese XP-A patients have severe neurological symptoms due to a founder variant in intron 3 of the XPA gene. However, in the United States we found XP-A patients with milder clinical features. We developed a simple scoring scale to assess XP-A patients of varying neurological disease severity. We report 18 XP-A patients examined between 1973 and 2023 under an IRB approved natural history study. Using our scale, we classified our XP-A cohort into severe (n = 8), intermediate (n = 5), and mild (n = 5) disease groups at age 10 years. DNA repair tests demonstrated greatest reduction of DNA repair in cells from severe patients as compared to cells from mild patients. Nucleotide sequencing identified 18 germline pathogenic variants in the 273 amino acid, 6 exon-containing XPA gene. Based on patient clinical features, we associated these XPA variants to severe (n = 8), intermediate (n = 6), and mild (n = 4) clinical phenotypes in the patients. Protein structural analysis showed that nonsense and frameshift premature stop codon pathogenic variants located in exons 3 and 5 correlated with severe disease. Intermediate disease correlated with a splice variant at the last base in exon 4. Mild disease correlated with a frameshift variant in exon 1 with a predicted re-initiation in exon 2; a splice variant that created a new strong donor site in intron 4; and a large genomic deletion spanning exon 6. Our findings revealed correlations between disease severity, DNA repair capacity, and XPA variant type and location. In addition, both XPA alleles contributed to the phenotypic differences in XP-A patients.

    View details for DOI 10.1371/journal.pgen.1011265

    View details for PubMedID 39621777

  • 406 Correlation of different XPA gene mutations with severe, intermediate, and mild clinical phenotypes in xeroderma pigmentosum patients Journal of Investigative Dermatology Sagun, J. P., Khan, S. G., Tamura, D., Imoto, K., DiGiovanna, J. J., Kraemer, K. H. 2024

    View details for DOI 10.1016/j.jid.2024.06.422

https://orcid.org/0009-0002-4551-5967