Prof. Dr. rer. nat. Brunhilde Wirth - Curriculum Vitae

Education and professional career

since 2003: C4-Professor and Head of the Institute Human Genetics, University Hospital of Cologne, Group leader
1996 - 2003: C2-Associate professor and group leader at the Institute of Human Genetics in Bonn (Mentor Prof. Dr. Peter Propping)
1996: Habilitation and venia legend in Human Genetics, Medical Faculty, Univ. Bonn(mentor: Prof. Peter Propping)
1996: Specialist for human genetics GfH
1990 - 1996: C1-Assistant professor and group leader at the Institute of Human Genetics in Bonn (Mentor Prof. Dr. Peter Propping)
1989 - 1990: DFG award. Postdoc at Imperial Cancer Fund Laboratories, London, Group of Prof. Dr. Anne-Marie Frischauf
1989: PhD, Math-Nat. Faculty, Univ. Bonn (supervisor: Prof. Andreas Gal)
1986 - 1989: PhD student at the Institute of Human Genetics in Bonn, Group of Prof. A. Gal.  
1983: Certificate in Applied Genetics, Faculty of Biology, Univ. Bukarest
1982: Dipl-Biol, Faculty of Biology, Univ. Bukarest
1982 - 1983: Specialization in Applied Genetics, Biology Faculty, University of Bucharest,
1978 - 1982: Biology Faculty, University of Bucharest, Dipl.-Biol

Awards, distinctions and professional activities

since 2016: Vice-chair of Scientific Review Board of the UoC Max-Delbrück Award
since 2016: Chair of the Scientific Review Board of SMA-Europe
since 2010: Member of the Scientific Review Board of SMA-Europe
since 2010: Member of the Internal scientific review board of the CMMC
2009 - 2016: Member of the Scientific Program Committee of the International Congress of Human Genetics
2009 - 2016: Chair of the Scientific Program Committee of the European Society of Human Genetics
since 2008: Co-director of the European School of Medical Genetics
2005 - 2017: Member of the Scientific Program Committee of the European Society of Human Genetics
2002 - 2006: Vice-President of the German Society of Human Genetics
2001: 1st prize of the Scientific Award for Motor Neuron Diseases (Aventis, DGM)
1996: Sanofi-Wintrop Myopathy Award (DGM)
1989: Fellowship from the Deutsche Forschungsgemeinschaft

Selected publications

Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Brander C, Dimitriadi M, Hosseinibarkooie S, Peters M, Upadhyay A, Biglari N, Grysko V, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B. Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis. Am J Hum Genet, 2017; 2. Feb. 100 (2): 297-315 (10 citations)

Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Frank Bennett FC, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye1, MJ, Clemen C, Wirth B. The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype.
Am J Hum Genet, 2016; 1. Sept. 99 (3): 647-665 (28 citations)

Heesen L, Peitz M, Torres-Benito L, Holker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseinibarkooie S, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B. Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Cell Mol Life Sci, 2016; 16 May, 73(10):2089-104. (13 citations).

Wishart TM, Mutsaers CA, Riessland M, Reimer MM, Hamilton G, Hannam ML, Eaton S, Fuller HR, Roche SL, Somers E, Morse R, Young PY, Lamont DJ, Hammerschmidt M, Morris GE, Parson SH, Skehel PA, Becker T, Robinson IM, Becker CG, Wirth B, Gillingwater TH. Disruption of ubiquitin homeostasis and ß-catenin signalling underlies neuromuscular pathology in SMA. J Clin Invest, 2014 124(4):1821-34 (81 citations, 20 /year).

Riessland M, Ackermann B, Forster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, Wirth B: SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.
Hum Mol Genet, 2010, 19(8):1492-506 (165 citations, 23 / year).

Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.
Science, 2008, 320: 524-7. (300 citations, 33 / year).

Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl FA, Raschke H, Blumcke I, Eyupoglu IY, Wirth B: Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy.
Hum Mol Genet, 2003;12:2481-9. (401 citations, 29 / year).

Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B: Quantitative analysis of SMN1 and SMN2 based on real-time LightCycler PCR: Fast and highly reliable heterozygosity testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet, 2002, 70:358-368; (677 citations, 45 / year).

Wirth B: An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutation, 2000, 15:228-237 (468 citations, 28 / year).

Lorson CL, Hahnen E, Androphy EJ, Wirth B: A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA, 1999, 96 (11):6307-6311, (970 citations, 53 / year).

B . WIRTH & M. RIESSLAND, US20160208248 A1; US Patent App. 14/908,162, 2014; Neurocalcin Delta Inhibitors and Therapeutics and Non-Therapeutics Uses Thereof.