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Institut für Humangenetik

AG Rare and Hereditary Kidney Diseases

Dr. Bodo Beck 

The Rare and Hereditary Kidney Diseases working group at the Institute of Human Genetics is led by Dr. Bodo Beck; since 2010, this Group has been researching the genetic bases of kidney dysfunction.

Particular clinical areas of focus include hereditary kidney stone diseases, steroid-resistant nephrotic syndromes (SRNS), atypical hemolytic-uremic syndrome (aHUS), tubulointerstitial kidney diseases, cystic kidney diseases, genetic forms of high blood pressure and kidney disorders that are manifested prenatally, as well as rare diseases that lead to severe kidney dysfunction.

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AG Neuromuscular and Skeletal Diseases Working Group

Prof. Brunhilde Wirth 

  • Search for novel genes causing motor-neuron diseases based on whole exome sequencing 
  • Development of disease-specific NGS-panels for various disease groups; screening and analysis of patient cohorts
  • Deciphering the pathomechanism of spinal muscular atrophy using animal models (mice, zebrafish)
  • Unravelling the modifying pathways counteracting spinal muscular atrophy
  • Search for therapeutic options for spinal muscular atrophy

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AG Functional Genetics of Neurodegeneration and Neurological Disorders Working Group

Dr. Dr. Hans Zempel

  • Model Systems and development of therapeutic approaches for Alzheimer Disease and related dementia syndromes & Tauopathies (e.g. Frontotemporal Dementia, Pick's Disease, Corticobasal Degeneration, Progressive Supranuclear Palsy)

  • Model Systems and development of therapeutic approaches for Mitochondrial Depletion Syndromes (Polymerase Gamma deficiencies like Alpers Syndrome) and neurodegenerative diseases caused by impaired mitochondrial function (e.g. MELAS, SANDO, SCAE, PEO)

  • Fundamental research on mechanisms of neuronal cell polarity, intracellular neuronal transport, and neuronal function in models of small neuronal circuit systems

hans.zempel@uk-koeln.de

AG Skeletal Disorders and Genetic Syndromes

Prof. Dr. Christian Netzer

In 2019, the working group, together with an international team of scientists, described a new syndrome associated with premature ageing and provided genetic clarification for it. A focus of recent research has been brittle bone disease (osteogenesis imperfecta; OI), a genetic skeletal disease that results in increased fragility of the bones. Using next-generation sequencing, we have been able to identify the genes that cause OI types V and VI that researchers have been seeking for a long time.

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AG Structure and Stability of the Epi(Genome)

Robert Hänsel-Hertsch, PhD

- the existence and significance of age-related structural changes in the epigenome and their effects on the development of disease.

The working group is addressing the following conceptional questions:

  • Are epigenome changes “passengers” or “drivers” of age in mammals?
  • Are there certain epigenome structural states that promote genome stability and disease development?
  • Can age-related epigenome changes be suppressed and extend the lifespan of mammals?
  • Are specific epigenome states of diagnostic and therapeutic value?

robert.haensel-hertsch@uni-koeln.de