Prof. Dr. med. Carsten Bergmann 1993

Prof. Dr. med. Carsten Bergmann 1993-2000 2000

2000-2006

2002-2009 2006 2006 2008 2009 2010 Aktuell: seit 2009 seit 2012

Mitgliedschaften:

Studium der Humanmedizin an der RWTH Aachen, Praktisches Jahr in Aachen und East London/Kapstadt Promotion: Klinik und Genetik der Charcot-Marie-Tooth (CMT) Neuropathien (Institut für Neuropathologie/ Prof. J. M. Schröder) (“summa cum laude“) Ausbildung zum Facharzt für Humangenetik am Institut für Humangenetik (Prof. K. Zerres) und an der Kinderklinik (Prof. G. Heimann) des UKA Arbeitsgruppenleiter, Humangenetik RWTH Aachen Anerkennung als Facharzt für Humangenetik Habilitation: Klinik und Genetik der autosomal rezessiven polyzystischen Nierenerkrankung (ARPKD) Secundo loco, Professur, Lehrstuhl für Medizinische Genetik, Universitätsspital Basel/Schweiz Tertio loco, W3-Professur, Lehrstuhl für Humangenetik, Universitätsklinikum Ulm Verleihung apl. Professur

Leiter und Ärztlicher Direktor, Zentrum für Humangenetik, Bioscientia Arbeitsgruppenleiter, Universitätsklinikum Freiburg (http://www.nephrolab.org/) Deutsche, Europäische und Amerikanische Gesellschaft für Humangenetik (GfH, ESHG, ASHG); Deutsche, Europäische und Amerikanische Gesellschaft für pädiatr. Nephrologie und Nephrologie (DGfN, GPN ERA-EDTA, ESPN, ASN)

Forschungsschwerpunkte: Identifizierung und Charakterisierung von Genen/Proteinen für Ziliopathien (Zystennieren, Bardet-Biedl-Syndrom, Joubert-Syndrom, Meckel-Gruber-Syndrom, Jeune-Syndrom und assoz. Osteochondrodysplasien) (http://www.nephrolab.org/) Auszeichnungen:

2003 Else Kröner-Fresenius Preis der Else Kröner-Fresenius Stiftung 2004 Best Oral Presentation Award (IPNA) 2004 Stipendium der Dt. Nierenstiftung 2005 Young Scientist Award der German Israeli Scientific Foundation (GIF) 2007 Friedrich-Wilhelm Preis der Friedrich-Wilhelm Stiftung 2011 Best Oral Presentation Award (ESPN) 2011 PKD award

Ausgewählte Publikationen:  

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Hoff S, Halbritter J, ..., Hildebrandt F, Bergmann C, Lienkamp SS. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet (in press). Schmidts M, Frank V, …, Mitchison HM, Bergmann C. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease. Hum Mutat 34:714-24, 2013. Bergmann C. Autosomal recessive polycystic kidney disease (ARPKD) gets more complex. Gastroenterology 144(5):1155-6, 2013. Frank V, Habbig S, Bartram MP, …, Schermer B, Bergmann C. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet 22:2177-85, 2013. Bergmann C. Ciliopathies. Eur J Pediatr 171(9):1285-300, 2012. Kleffmann J, Frank V, Ferbert A, Bergmann C. Dosage-sensitive network in polycystic kidney and liver disease: Multiple mutations cause severe hepatic and neurological complications. J Hepatol 57(2):476-7, 2012.

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Busch J, …, Bergmann C. Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. J Invest Dermatol Jun 14, 2012. Bergmann C & Weiskirchen R. It’s not all in the cilium, but on the road to it: Genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter. J Hepatol 56(5):1201-3, 2012. Dowdle WE et al. Disruption of a ciliary B9 protein complex causes Meckel Syndrome. Am J Hum Genet 15;89(1):94-110, 2011. Bergmann C et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 22(11):2047-56, 2011. Davis EE et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 43:189-96, 2011. Otto EA et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinalrenal ciliopathy. Nat Genet 42(10):840-50, 2010. Bergmann C et al. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N Engl J Med 359(3):318-9, 2008. Frank V, …, Bergmann C. Mutations in CEP290 encoding a centrosomal protein cause MeckelGruber syndrome. Human Mutation 29(1):45-52, 2008. Khanna H et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 41(6):739-45, 2008. Bergmann C et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruberlike syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 82(4):959-70, 2008. Frank V, ..., Bergmann C. Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel Gruber syndrome. Human Mutation 28:638-9, 2007. Bergmann C, Zerres K. Early manifestations of polycystic kidney disease. Lancet 369 (9580): 2157, 2007. Bergmann C et al. Mutations in the gene encoding the Wnt signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet 79:1105-1109, 2006. Senderek J et al. Mutations in BAP/SIL1 cause Marinesco-Sjögren syndrome. Nat Genet 37:13124, 2005. Bergmann C et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD). Kidney Int 67:829-848, 2005. Senderek J, Bergmann C et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 12:34956, 2003. Bergmann C et al. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 126:1537-44, 2003. Senderek J, Bergmann C et al. Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy. Am J Hum Genet 73:1106-1119, 2003. Bergmann C et al. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Med Genet 121:151-155, 2003. Bergmann C et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 13:76-89, 2003.

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