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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