Dr. rer. nat. Sören Mucha

  • Understanding the pathomechanism of coronary artery disease (CAD)
  • This involves a comprehensive investigation of genetic variants in risk loci associated with CAD using bioinformatics.
  • This includes gene-based aggregation approaches as well as protein gene / protein-protein interaction network to determine core genes affecting CAD

5/2020-ongoing

Postdoctoral researcher at ICG, group leader

1/2020-4/2020

Postdoctoral researcher at Institute of Clinical Molecular Biology (IKMB), Kiel
Main focus: Analysis of rare mutations in variable immunodeficiency syndrome

5/2013-12/2019

Doctoral candidate at IKMB – Bioinformatics
Genome-wide association studies, gene expression, interaction
networks, exome chip, Perl, Python, R, autoimmune diseases (atopic dermatitis, psoriasis, primary sclerosing cholangitis, Crohn’s disease, ulcerative colitis)

Title of doctoral thesis: „Identification of genetic risk factors for psoriasis and atopic dermatitis“

7/2011-1/2012

Master thesis at Achenbach Hospital, Königswusterhausen

Asklepios Clinic Teupitz, Teupitz
TH-Wildau, Wildau
Next generation sequencing, whole exome enrichment, multiple sclerosis, validation of different databases, Java programming, determination of multiple sclerosis associated genes

02/2009-6/2009

Bachelor thesis at Max-Planck-Institute for Molecular Genetics, Berlin

TH-Wildau, Wildau
Department: Neurochemistry
Receptor expression of serotonin in RINm5F and MIN-6 cells, ELISA for analysis of insulin secretion with different substances (activators, inhibitors), HPLC analysis of metabolite concentrations, cellular
protein determination

  1. Mucha S, Baurecht H, Novak N, Rodríguez E, Bej S, Mayr G, Emmert H, Stölzl D, Gerdes S, Jung ES, Degenhardt F, Hübenthal M, Ellinghaus E, Kässens JC, Wienbrandt L, Lieb W, Müller-Nurasyid M, Hotze M, Dand N, Grosche S, Marenholz I, Arnold A, Homuth G, Schmidt CO, Wehkamp U, Nöthen MM, Hoffmann P, Paternoster L, Standl M; Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, Bønnelykke K, Ahluwalia TS, Bisgaard H, Peters A, Gieger C, Waldenberger M, Schulz H, Strauch K, Werfel T, Lee YA, Wolfien M, Rosenstiel P, Wolkenhauer O, Schreiber S, Franke A, Weidinger S, Ellinghaus D. Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression. J Allergy Clin Immunol. 2020 Apr;145(4):1208-1218. doi:10.1016/j.jaci.2019.10.030.

  2. Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN. Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling. Hum Mol Genet. 2017 Nov 1;26(21):4301-4313. doi:0.1093/hmg/ddx328.

  3. Tsoi LC, Stuart PE, Tian C, Gudjonsson JE, Das S, Zawistowski M, Ellinghaus E, Barker JN, Chandran V, Dand N, Duffin KC, Enerbäck C, Esko T, Franke A, Gladman DD, Hoffmann P, Kingo K, Kõks S, Krueger GG, Lim HW, Metspalu A, Mrowietz U, Mucha S, Rahman P, Reis A, Tejasvi T, Trembath R, Voorhees JJ, Weidinger S, Weichenthal M, Wen X, Eriksson N, Kang HM, Hinds DA, Nair RP, Abecasis GR, Elder JT. Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. Nat Commun. 2017 May 24;8:15382. doi:10.1038/ncomms15382.

  4. Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E, Kumasaka N, Atkinson EJ, Schlicht EM, Liu JZ, Shah T, Gutierrez-Achury J, Boberg KM, Bergquist A, Vermeire S, Eksteen B, Durie PR, Farkkila M, Müller T, Schramm C, Sterneck M, Weismüller TJ, Gotthardt DN, Ellinghaus D, Braun F, Teufel A, Laudes M, Lieb W, Jacobs G, Beuers U, Weersma RK, Wijmenga C, Marschall HU, Milkiewicz P, Pares A, Kontula K, Chazouillères O, Invernizzi P, Goode E, Spiess K, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J, Floreani A, Gulamhusein AF, Eaton JE, Schreiber S, Coltescu C, Bowlus CL, Luketic VA, Odin JA, Chopra KB, Kowdley KV, Chalasani N, Manns MP, Srivastava B, Mells G, Sandford RN, Alexander G, Gaffney DJ, Chapman RW, Hirschfield GM, de Andrade M; UK-PSC Consortium; International IBD Genetics Consortium; International PSC Study Group, Rushbrook SM, Franke A, Karlsen TH, Lazaridis KN, Anderson CA. Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. Nat Genet. 2017 Feb;49(2):269-273. doi:10.1038/ng.3745.

  5. Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D’Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium, MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar JP, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen JV, Milgrom R, Proctor D, Regueiro M, Schumm PL, Sharma Y, Stempak JM, Targan SR, Wang MH. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 Aug 9;7:12342. doi:10.1038/ncomms12342.
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