Wollnik, Bernd, Prof. Dr.
Professor of Medical Genetics
- Since 2015 Director, Institute of Human Genetics, University Medical Center Göttingen
- 2013 - 2015 Director, Center for Rare Diseases Cologne, University Hospital Cologne
- 2012 - 2015 Associate Professor for Medical Genetics, Institute of Human Genetics, University Hospital Cologne
- 2004 - 2012 Junior Research Group Leader, Center for Molecular Medicine Cologne (CMMC), Institute of Human Genetics, University Cologne
- 1999 - 2004 Foreign Lecturer, Division of Medical Genetics, Istanbul University, Turkey
- 1997 - 1999 Post-doctoral Researcher, Division of Medical Genetics, Istanbul University, Turkey
- 1997 Post-doctoral Researcher, Center for Molecular Neurobiology, University Hamburg
- 1988 - 1995 Studies of Medicine, Rheinische Friedrich-Wilhelms University Bonn
Major Research Interests
My key research interest is to discover novel genes and elucidate the molecular mechanisms underlying rare congenital syndromes. My group focuses especially on syndromes associated with primary microcephaly, e.g. Bloom syndrome or Seckel syndrome, and progeroid syndromes, i.e. disorders associated with premature or accelerated aging like, for example, Hallermann-Streiff syndrome or Wiedemann-Rautenstrauch syndrome.
We use next-generation sequencing (NGS) approaches and we have established an innovative bioinformatics pipeline and process for assessing and interpreting NGS data from whole-genome or whole-exome sequencing that brings together scientists and clinicians from different backgrounds to identify new causative genes for undiagnosed rare congenital diseases. By deep functional characterization of the involved gene products and molecular pathways, we unravel how they act in fundamental cellular processes such as DNA replication, chromatin structure & remodeling, transcriptional regulation or mitochondrial functions. Our findings expand our knowledge about the pathogenesis of these rare disorders and, at the same time, provide us with important new insights in the processes involved in physiological aging and in common age-related pathologies such as neurodegeneration, heart failure or cancer. By means of different cellular models and model organisms as well as iPS cells, we also investigate the role of somatic mutations in genomic instability and changes in gene expression profiles.
Homepage Department/Research Group
Selected Recent Publications
- Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. (2017) Nat Genet 49(2):249-255. doi: 10.1038/ng.3765
- Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, and Jackson AP. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. (2016) Nat Genet 48(1):36-43.
- Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M. Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit. (2016) eLife doi: 10.7554/eLife.14277.
- Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. (2015) J Clin Invest 125(9):3585-99.
- Kalay E, Yigit G, Aslan Y, Brown KE, Li Y, Pohl E, Bicknell L, Kayserili H, Tüysüz B, Nürnberg N, Kiess W, Baessmann I, Buruk K, Kul S, Ikbal M, Taylor MS, Aerts J, Scott C, Dollfuss H, Wieczorek D, Brunner HG, Rauch A, Nürnberg P, Hurles M, Jackson AP, Karagüzel A, Wollnik B. CEP152 is a novel genome-maintenance protein and its disruption causes genomic instability in Seckel syndrome. (2011) Nat Genet 43, 23-26.