Human Genetics
Professor Dr. med. Jörg Schmidtke, Director of the Department of Human Genetics
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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 (www.orpha.net), EUROGENTEST (www.eurogentest.org), and CAPABILITY (www.capabilitynet.eu).
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
DNA-based testing
Chromosome analyses
DNA-Fingerprinting
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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
