Short CV/Education and training

    Studied medicine at the Université Catholique de Louvain in Brussels (Belgium) and the University of Hamburg, Germany; licence to practise medicine

  • 1987
    Doctorate from the University of Hamburg

  • 1988 – 1993
    Postdoctoral fellow at the Kennedy Krieger Institute and Department of Human Genetics, Johns Hopkins Medical Institutions, Baltimore, USA

  • 1992
    United States Medical Licencing Examination (USMLE)

  • 1993 – 2002
    Junior doctor and since 1995 senior doctor, Centre for Paediatrics, Heinrich Heine University, Düsseldorf, Germany

  • 1995
    Habilitation (postdoctoral qualification), Heinrich Heine University, Düsseldorf

  • Since 1995
    Specialist in paediatrics

  • 2000 – 2002
    University professor, Heinrich Heine University, Düsseldorf

  • Since 2002
    University professor and director, Centre for Paediatric and Adolescent Medicine, Paediatrics II, with an emphasis on neuropaediatrics, University Medical Centre Göttingen, Germany

  • Since 2005
    Designated research concentration in neuropaediatrics

  • Since 2008
    Managing director, Centre for Paediatric and Adolescent Medicine, University Medical Centre Göttingen (UMG)

Selected publications

  • Gärtner J, Moser H, Valle D (1992): Mutations in the 70 k peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet 1: 16-22. [IF 34,284]

  • Steinfeld, R. et al.: Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. In: Hum Mol Genet 13, 2004. S. 2483-2491. [IF 7,386]

  • Uhlenberg B, Schuelke M, Ruschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nürnberg P, Hübner C, Weschke B, Gärtner J (2004): Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 75:251-260. [IF 12,303]

  • Henneke, M. et al.: Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children. In: Neurology 64, 2005. S. 1411-1416. [IF 8,172]

  • Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Brück W, Saftig P, Gärtner J (2006): Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 78: 988-998. [IF 12,303]

  • Hillebrand, M. et al.: Live cell FRET microscopy: Homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP 70 (ABCD3). In: J Biol Chem 282, 2007. S. 26997-267005. [IF 5,328]

  • Schönberger, S. et al.: Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. In: Arch Neurol 64, 2007. S. 651-657. [IF 6,312]

  • Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J (2009): RNASET2 deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet 41:773-775. [IF 34,284]

  • Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J (2009): Folate receptor alpha defect causes cerebral folate transport deficiency: a new treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 85:354-363. [IF 12,303]

  • Thoms, S., Grønborg, S., Gärtner, J.: Organelle interplay in peroxisomal disorders. In: Trends Mol Med 15, 2009. S. 293-302. [IF 11,049]

Selected projects

  • My scientific work deals primarily with neurometabolic and neurodegenerative diseases that manifest early in life as well as childhood multiple sclerosis. The common goal of these studies is the translational linkage of insights from basic science with patient-oriented, innovative therapeutic approaches and the reduction of the time lag from basic research to clinical application of the results. The thematic emphasis lies in identifying genes for as yet unexplained neurometabolic and neurodegenerative diseases, and in carrying out investigations employing cell and animal models to clarify both the pathogenesis of, and therapeutic approaches to, neurodegeneration and repair.


  • Founding of the German Centre for Multiple Sclerosis in Childhood and Adolescence (three pillars: aetiology research, establishment of new treatments and an information platform)

Since 2005

  • Multiple sclerosis in childhood and adolescence

  • Compilation of an index of clinical, laboratory chemistry and neuroradiological data

  • Studies on the effect of Epstein-Barr viruses and genetic markers for the manifestation and course of illness

  • Retrospective clinical studies on the effectiveness of beta-interferons and natalizumab

Since 2003

  • Rett syndrome

  • Role of MECP2 in Rett syndrome and other neurodevelopmental disorders

  • Establishment of a mouse model (MECP2R168X)

  • Investigations employing animal models to study cardiorespiratory dysfunction and behavioural abnormalities and to establish therapeutic approaches

  • Neuronal ceroid lipofuscinosis (juvenile dementia type)

  • Identification of CLN13 (Cathepsin D) as a new disease gene by means of a candidate gene search in an animal model

  • Characterisation of CLN2 and CLN13 in cell and animal models and based on structural analyses

Since 1993

  • Undefined leukoencephalopathies

  • Ascertaining disease entities based on clinical and neuroradiological features (pattern recognition approach)

  • Identification of new disease genes by means of pangenomic linkage analyses and subsequent characterisation of the encoded proteins

  • Pelizaeus Merzbacher-like disease with a defect in the GJA12 gene (Connexin 46.6)

  • Cystic leukoencephalopathy with a RNASET2 glycoprotein deficiency

  • Cerebral folate deficiency with a defect in the folate receptor

Since 1989

  • Peroxisomal diseases

  • Peroxisome biogenesis defects (PBD)

  • Characterisation of the development of human peroxisomes in comparison with their development in other mammals and in yeast

  • Description of disease genes for human defects

  • Establishment of mouse models (Pex1-/-, Pex1G843D)

  • X-chromosome adrenoleukodystrophy

  • Characterisation of the adrenoleukodystrophy protein

  • Investigations of disease modifiers

  • Establishment of mouse models (X-ALD/EAE)

Membership in scientific bodies/juries

  • Member of the National Academy of Sciences Leopoldina, since 2014

  • Deputy spokesperson of the review board for medicine, since 2008

  • Spokesperson, Section 4 of the review board for medicine: Genetic, metabolic and regulatory basis of diseases and public health, since 2008

  • Member of the Commission on Drugs for Children and Adolescents (KAKJ), German Federal Institute for Drugs and Medical Devices (BfArM), since 2007

  • Review board member, representative for the field of paediatrics, since 2004

  • Member of the executive committee, Society for the Study of Inborn Errors of Metabolism (SSIEM), since 2004

  • Member of the executive committee, German Society for Paediatrics and Adolescent Medicine (DGKJ), since 2004

  • Member of the higher education committee, DGKJ, since 2004

  • Member of the committee on women's advancement and equality, 2003 – 2006

  • Member of the undergraduate studies committee, 2003 – 2006

  • Spokesperson for search committees and structuring committees (search for a W3 professor of psychiatry and psychotherapy, structuring committee for the Centre for Anaesthesiology, inter alia), since 2003

  • Spokesperson for the research funding programme, since 2003

  • Member of the research commission, since 2003

Additional qualifications

  • Clinical management positions

  • Managing director of the Centre for Paediatric and Adolescent Medicine, University Medical Centre Göttingen (UMG), Germany, since 2008

  • Directed the German Centre for Multiple Sclerosis in Childhood and Adolescence, together with Prof. Wolfgang Brück, since 2007

  • Founded and developed the Social Paediatric Centre, including management of budget negotiations, since 2003

  • Director of Paediatrics II department (University Medical Centre Göttingen), including sections for general paediatrics, diabetes, endocrinology, gastroenterology, nephrology, neuropaediatrics, psychosomatics, rheumatology and metabolism, since 2002

Soft Skills/Other activities and achievements

Additional interests

  • Classical music

  • Theology

  • Sport


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