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Human Genetics

Professor Dr. med. Jörg Schmidtke, Director of the Department of Human Genetics

Professor Dr. Jörg Schmidtke is a renowned clinical geneticist and an expert in rare genetic disease diagnostics as well as rare disease translational research. His scientific interests focus on the molecular basis of hereditary genetic diseases.

He is involved in several international projects dealing with optimizing genetic services provision, such as ORPHANET (, EUROGENTEST (, and CAPABILITY (

Professor Schmidtke is a member of several national and international genetics societies. He was Chairman of the German Board of Medical Genetics and President of the German Society for Human Genetics.

He has edited numerous scientific books and journals.
He was advisor to the German Medical Association and served on the Ethics Council of the German Federal Ministry of Health.

Professor Schmidtke was president of the 19th International Annual Meeting of the German Society of Human Genetics, Hannover, April 8-10, 2008.

Clinical Services

Genetic consultations

  • clinical assessment of dysmorphologies
  • syndrome identification

Genetic counseling

  • reproductive counseling
  • counseling in connection with predictive testing for late-onset disorders

DNA-based testing

  • diagnostic
  • predictive (presymptomatic)
  • carrier testing
  • prenatal testing

Chromosome analyses

  • postnatal karyotyping
  • prenatal karyotyping
  • molecular cytogenetic testing:
    microdeletion syndromes,
    marker chromosome identification,
    subtelomere screening,
    chromosome painting


  • paternity tests
  • maternity tests
  • ancestry tests
  • identity tests
  • chimaerism

Special diagnostic competencies include:

  • cystic fibrosis
  • hereditary pancreatitis
  • reproductive failure
  • male infertility
  • haemochromatosis
  • Morbus Osler
  • Marfan syndrometype 1 and 2
  • Loeys-Dietz syndrome
  • Rhesus incompatibility
  • haemoglobinopathies (beta-thalassaemia, sickle-cell disease)
  • Charge syndrome
  • congenital alveolar proteinosis (surfactant Protein-B deficiency)
  • hyperhomocysteinaemia (MTHFR deficiency)
  • dyschromatosis
  • Angelman syndrome
  • Cri-du-chat syndrome
  • DiGeorge syndrome
  • Kallman syndrome
  • Miller-Dieker syndrome
  • Prader-Willi syndrome
  • Smith-Magenis syndrome
  • Sotos syndrome
  • Williams-Beuren syndrome
  • Wolf-Hirschhorn syndrome  

Homepage Department of Human Genetics