Department of Natural Sciences

Portraet Oskar Schnappauf 2023

Prof. Dr Oskar Schnappauf

Professor

oskar.schnappauf@h-brs.de

Unit

Department of Natural Sciences

Location

Rheinbach

Address

Von-Liebig-Str. 20

53359 Rheinbach

Telephone

+49 2241 865

Curriculum vitae

Beruflicher Werdegang

  • Wissenschaftlicher Mitarbeiter, Synlab Humangenetik, Freiburg (August 2020 - Februar 2023)
  • Stellvertretender Direktor, Inflammatory Disease Section, National Human Genome Research Institute (NHGRI), Bethesda, USA (Juli 2019 - Juli 2020)
  • Postdoktorand, National Human Genome Research Institute (NHGRI), Bethesda, USA (Januar 2017 - Juni 2019)
  • Projektmanager - Innovation Health Partners, Berlin (August 2016 - Dezember 2016)
  • Postdoktorand - Institut für Molekulare Medizin und Zellforschung, Freiburg (Juni 2015 - Dezember 2015)

Ausbildung

  • Weiterbildung zum Fachhumangenetiker, Synlab Humangenetik / Deutsche Gesellschaft für Humangenetik, Freiburg (August 2020 - November 2022)
  • Weiterbildung zum Medizinischen Genetiker (Molekulare Genetik und Zytogenetik), National Human Genome Research Institute / American Board of Medical Genetics and Genomics, Bethesda, USA (Januar 2017 - Juli 2020)
  • Promotion - Max Planck Institut für Immunbiologie und Epigenetik, Freiburg (August 2010 - April 2015)
  • Diplomstudium Biologie - Johannes Gutenberg-Universität, Mainz (September 2008 - Juni 2010 / August 2006 - Juli 2007)
  • Diplomstudium Biologie - Universidade de Lisboa, Lissabon, Portugal (August 2007 - August 2008)
  • Vordiplom-Studium Biologie - Universität Bayreuth (September 2004 - Juli 2006)
Digitale Timeline

Memberships

Mitglied der Deutschen Gesellschaft für Humangenetik (GfH)

GfH - Gesellschaft für Humangenetik

Mitglied des American College of Medical Genetics and Genomics (ACMG)

American College of Medical Genetics and Genomics

Mitglied des American Board of Medical Genetics and Genomics (ABMGG)

American Board of Medical Genetics and Genomics

Awards

Erlangung der Berufsbezeichnung 'Fachhumangenetiker (GfH)' - 2022

Auszeichnung des American Board of Medical Genetics and Genomics - 'Laboratory Genetics and Genomics' - 2021

Auszeichnung des American Board of Medical Genetics and Genomics - 'Clinical Molecular Genetics and Genomics' - 2019

National Human Genome Research Institute 'Fellows Award for Research Excellence' (2020)

Forschungsstipendium der Deutschen Forschungsgemeinschaft (DFG) (2017)

Publications

  • An JW, Pimpale-Chavan P, Stone DL, Bandeira M, Dedeoglu F, Lo J, Bohnsack J, Rosenzweig S, Schnappauf O, Dissanayake D, Hiraki LT, Kastner DL, Pelajo C, Laxer RM, Aksentijevich I. Case report: Novel variants in RELA associated with familial Behcet's-like disease. Front Immunol. 2023 Feb 28;14:1127085. doi: 10.3389/fimmu.2023.1127085. PMID: 36926348; PMCID: PMC10011480.
  • Barron KS, Aksentijevich I, Deuitch NT, Stone DL, Hoffmann P, Videgar-Laird R, Soldatos A, Bergerson J, Toro C, Cudrici C, Nehrebecky M, Romeo T, Jones A, Boehm M, Kanakry JA, Dimitrova D, Calvo KR, Alao H, Kapuria D, Ben-Yakov G, Pichard DC, Hathaway L, Brofferio A, McRae E, Moura NS, Schnappauf O, Rosenzweig S, Heller T, Cowen EW, Kastner DL, Ombrello AK. The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. Front Immunol. 2022 Jan 10;12:811473. doi: 10.3389/fimmu.2021.811473. PMID: 35095905; PMCID: PMC8790931.
  • Deuitch NT, Yang D, Lee PY, Yu X, Moura NS, Schnappauf O, Ombrello AK, Stone D, Kuehn HS, Rosenzweig SD, Hoffmann P, Cudrici C, Levy DM, Kessler E, Soep JB, Hay AD, Dalrymple A, Zhang Y, Sun L, Zhang Q, Tang X, Wu Y, Rao K, Li H, Luo H, Zhang Y, Burnham JM, Boehm M, Barron K, Kastner DL, Aksentijevich I, Zhou Q. TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). J Allergy Clin Immunol. 2022 May;149(5):1812-1816.e6. doi: 10.1016/j.jaci.2021.10.030. Epub 2021 Nov 12. PMID: 34780847.
  • Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martín-Fernández M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cüceoğlu MK, Özen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D. Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. Cell. 2021 Aug 19;184(17):4447-4463.e20. doi: 10.1016/j.cell.2021.07.026. Epub 2021 Aug 6. PMID: 34363755; PMCID: PMC8380741.
  • Aksentijevich I, Schnappauf O. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases. Nat Rev Rheumatol. 2021 Jul;17(7):405-425. doi: 10.1038/s41584-021-00614-1. Epub 2021 May 25. PMID: 34035534. 
  • Schnappauf O, Heale L, Dissanayake D, Tsai WL, Gadina M, Leto TL, Kastner DL, Malech HL, Kuhns DB, Aksentijevich I, Laxer RM. Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report. Pediatr Rheumatol Online J. 2021 Apr 23;19(1):54. doi: 10.1186/s12969-021-00536-y. PMID: 33892719; PMCID: PMC8063424. 
  • Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31. PMID: 33779074.
  • Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. PMID: 33522091; PMCID: PMC8048530.
  • Schnappauf O, Sampaio Moura N, Aksentijevich I, Stoffels M, Ombrello AK, Hoffmann P, Barron K, Remmers EF, Hershfield M, Kelly SJ; NISC Comparative Sequencing Program; Cuthbertson D, Carette S, Chung SA, Forbess L, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Springer JM, Sreih AG, Warrington KJ, Ytterberg SR, Kastner DL, Grayson PC, Merkel PA; Vasculitis Clinical Research Consortium. Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2. Arthritis Rheumatol. 2021 Mar;73(3):512-519. doi: 10.1002/art.41549. Epub 2021 Feb 3. PMID: 33021335; PMCID: PMC9945880.
  • Schnappauf O. Genetische Diagnostik autoinflammatorischer Erkrankungen [Genetic diagnostics of autoinflammatory diseases]. Z Rheumatol. 2020 Sep;79(7):611-623. doi: 10.1007/s00393-020-00847-7. PMID: 32761370; PMCID: PMC7484157. 
  • Schnappauf O, Aksentijevich I. Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation. J Leukoc Biol. 2020 Aug;108(2):573-589. doi: 10.1002/JLB.2MR0520-166R. Epub 2020 Jul 17. PMID: 32678922. 
  • Schnappauf O, Zhou Q, Moura NS, Ombrello AK, Michael DG, Deuitch N, Barron K, Stone DL, Hoffmann P, Hershfield M, Applegate C, Bjornsson HT, Beck DB, Witmer PD, Sobreira N, Wohler E, Chiorini JA, Center TAG, Dalgard CL, Center NIS, Kastner DL, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. J Clin Immunol. 2020 Aug;40(6):917-926. doi: 10.1007/s10875-020-00817-3. Epub 2020 Jul 8. PMID: 32638197; PMCID: PMC7416912. 
  • Schnappauf O, Ombrello AK, Kastner DL. Deficiency of adenosine deaminase 2: Is it an elephant after all? J Allergy Clin Immunol. 2020 Jun;145(6):1560-1561. doi: 10.1016/j.jaci.2020.04.023. Epub 2020 Apr 27. PMID: 32353490.
  • Schnappauf O, Aksentijevich I. Current and future advances in genetic testing in systemic autoinflammatory diseases. Rheumatology (Oxford). 2019 Nov 1;58(Suppl 6):vi44-vi55. doi: 10.1093/rheumatology/kez294. PMID: 31769854; PMCID: PMC6878845. 
  • Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I. The Pyrin Inflammasome in Health and Disease. Front Immunol. 2019 Aug 7;10:1745. doi: 10.3389/fimmu.2019.01745. PMID: 31456795; PMCID: PMC6698799. 
  • Liebowitz J, Hellmann DB, Schnappauf O. Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency. J Rheumatol. 2019 Aug;46(8):1059-1060. doi: 10.3899/jrheum.180820. Epub 2019 May 15. PMID: 31092714. 
  • Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. PMID: 29936104; PMCID: PMC6175612. 
  • Schnappauf O, Beyes S, Dertmann A, Freihen V, Frey P, Jägle S, Rose K, Michoel T, Grosschedl R, Hecht A. Enhancer decommissioning by Snail1-induced competitive displacement of TCF7L2 and down-regulation of transcriptional activators results in EPHB2 silencing. Biochim Biophys Acta. 2016 Nov;1859(11):1353-1367. doi: 10.1016/j.bbagrm.2016.08.002. Epub 2016 Aug 5. PMID: 27504909.