Elisha Roberson, PhD

Research interests

Our lab studies the human genetics of inflammatory and autoimmune diseases. We are interested in dissecting out genetic variation, particularly rare variants, that contribute substantial risk for inflammatory disease. We use next-generation sequencing and bioinformatics techniques to identify high-risk variants then characterize their effects with cell biology and CRISPR/Cas9 mediated genome editing. Due to the various technologies that we use, our lab has a unique mix of human genetics, molecular biology, and bioinformatics.

We are particularly interested in hidradenitis suppurativa, otherwise known as acne inversa. This relatively common disease (≥1% prevalence) typically manifests as recurrent, deep nodules or abscesses in skin folds. While the exact etiology is unclear, it is sometimes successfully treated with systemic steroid therapy and biologic drugs, indicating the importance of immune system modulation. We are searching for the genetic variants that predispose an individual to developing hidradenitis using classical genetics in familial clusters of disease. We also are attempting to determine the molecular pathology of HS lesions to better identify appropriate treatments. A second research interest is dermatomyositis genetics, particularly difficult to treat juvenile dermatomyositis cases. We are developing collaborations with dermatomyositis clinicians to facilitate this goal.

Publications

  1. Roberson ED. Identification of high-efficiency 3’GG gRNA motifs in indexed FASTA files with ngg2. PeerJ Comput Sci. 2015;1. pii: e33. Epub 2015 Nov 18. PubMed PMID: 26878062; PubMed Central PMCID: PMC4750479.
  2. Triebwasser MP, Roberson ED, Yu Y, Schramm EC, Wagner EK, Raychaudhuri S, Seddon JM, Atkinson JP. Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration. Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6873-8. doi: 10.1167/iovs.15-17432. PubMed PMID: 26501415; PubMed Central PMCID: PMC4627248.
  3. Varga J, Roberson ED. Editorial: genomic advances in systemic sclerosis: it is time for precision. Arthritis Rheumatol. 2015 Nov;67(11):2801-5. doi: 10.1002/art.39285. PubMed PMID: 26239971.
  4. Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O’Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30. PubMed PMID: 25359994; PubMed Central PMCID: PMC4304103.
  5. Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet. 2013 Feb;45(2):133-5. doi: 10.1038/ng.2523. Epub 2013 Jan 13. PubMed PMID: 23313955; PubMed Central PMCID: PMC3789378.
  6. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15. PubMed PMID: 22832103; PubMed Central PMCID: PMC3334308.
  7. Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19. PubMed PMID: 22521419; PubMed Central PMCID: PMC3376540.
  8. Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012 May 4;90(5):784-95. doi: 10.1016/j.ajhg.2012.03.012. Epub 2012 Apr 19. PubMed PMID: 22521418; PubMed Central PMCID: PMC3376640.
  9. Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d’Étude du Polymorphisme Humain (CEPH) pedigrees. Eur J Hum Genet. 2012 Jun;20(6):657-67. doi: 10.1038/ejhg.2011.266. Epub 2012 Jan 25. PubMed PMID: 22274586; PubMed Central PMCID: PMC3355261.
  10. Roberson ED, Liu Y, Ryan C, Joyce CE, Duan S, Cao L, Martin A, Liao W, Menter A, Bowcock AM. A subset of methylated CpG sites differentiate psoriatic from normal skin. J Invest Dermatol. 2012 Mar;132(3 Pt 1):583-92. doi: 10.1038/jid.2011.348. Epub 2011 Nov 10. PubMed PMID: 22071477; PubMed Central PMCID: PMC3568942.
  11. Stevens EL, Heckenberg G, Roberson ED, Baugher JD, Downey TJ, Pevsner J. Inference of relationships in population data using identity-by-descent and identity-by-state. PLoS Genet. 2011 Sep;7(9):e1002287. doi: 10.1371/journal.pgen.1002287. Epub 2011 Sep 22. PubMed PMID: 21966277; PubMed Central PMCID: PMC3178600.
  12. Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science. 2010 Dec 3;330(6009):1410-3. doi: 10.1126/science.1194472. Epub 2010 Nov 4. PubMed PMID: 21051595; PubMed Central PMCID: PMC3087380.
  13. Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8. PubMed PMID: 20823914; PubMed Central PMCID: PMC3025784.
  14. Roberson ED, Bowcock AM. Psoriasis genetics: breaking the barrier. Trends Genet. 2010 Sep;26(9):415-23. doi: 10.1016/j.tig.2010.06.006. Epub 2010 Aug 6. Review. PubMed PMID: 20692714; PubMed Central PMCID: PMC2957827.
  15. Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. BMC Med Genet. 2009 Sep 17;10:93. doi: 10.1186/1471-2350-10-93. PubMed PMID: 19761602; PubMed Central PMCID: PMC2760526.
  16. Roberson ED, Pevsner J. Visualization of shared genomic regions and meiotic recombination in high-density SNP data. PLoS One. 2009 Aug 21;4(8):e6711. doi: 10.1371/journal.pone.0006711. PubMed PMID: 19696932; PubMed Central PMCID: PMC2725774.
  17. Soto I, Oglesby E, Buckingham BP, Son JL, Roberson ED, Steele MR, Inman DM, Vetter ML, Horner PJ, Marsh-Armstrong N. Retinal ganglion cells downregulate gene expression and lose their axons within the optic nerve head in a mouse glaucoma model. J Neurosci. 2008 Jan 9;28(2):548-61. doi: 10.1523/JNEUROSCI.3714-07.2008. PubMed PMID: 18184797.
  18. Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutat. 2007 Dec;28(12):1225-35. PubMed PMID: 17661425.