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Institut für Humangenetik

AG Beck

Dr. Bodo Beck 

  • Genetic basis of urolithiasis and nephrocalcinosis associated with hyperoxaluria and/or hypercalciuria
  • Discovery of novel therapeutic approaches in primary hyperoxaluria
  • Genetic basis and underlying pathomechanisms of tubulointerstitial renal disease of the medullary cystic kidney disease (MCKD) spectrum
  • Identification of genes associated with of steroid resistant nephritic syndrome (SRNS)/FSGS

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AG Kye

Dr. Min Jeong Kye 

  • microRNA mediated protein synthesis regulation in neurological disorders such as spinal muscular atrophy
  • Cellular mechanisms of cell to cell communication in neurological disorders
  • Spatial regulation of gene expression in neuron (local translation)
  • Molecular cellular mechanisms of learning and memory

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AG Schreml

Dr. Julia Scherml 

  • Hereditary forms of lipodystrophies and lipomatoses: gene-identification studies, functional analysis, pathogenesis
  • Characterization of genetic factors regulating lipid metabolism, spatial distribution of fat deposits and associated changes in the aging process
  • Rare monogenic metabolic, connective tissue and dermatologic disorders

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AG Wirth

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 Zempel

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