Project Details

Professorin Dr. Kerstin Kutsche

Address Universitätsklinikum Hamburg-Eppendorf
Zentrum für Geburtshilfe, Kinder- und Jugendmedizin
Institut für Humangenetik
Martinistraße 52
20251 Hamburg

Projects

As Applicant
- Current projects
  - Identification of novel causative genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and functional analysis of pathogenic mutations (Research Grants)
  - Whole-genome and RNA sequencing in 25 families with individual(s) affected by a Mendelian disorder (Research Grants)
  - Deciphering the pathomechanism of monogenic disorders associated with pathogenic variants in C20orf204, FBXW11 and WDHD1 (Research Grants)
  - Identifying the causal genetic variants in congenital brain disorders by integrating genome and transcrip-tome sequencing (Research Grants)
  - Identification of novel disease genes for monogenic forms of early-onset low BMD disorders (Clinical Research Units)
- Completed projects
  - Identifizierung des ursächlichen Gendefektes für zwei monogen vererbte Krankheiten (Research Grants)
  - IRP5: FIX proteins as regulators of receptor tyrosine kinase endocytosis and actin dynamics (Research Units)
  - Identifizierung von Krankheitsgenen für monogene Erkrankungen mittels chromosomaler Rearrangements und ausgewählte funktionelle Analysen (Research Grants)
  - Genetic and molecular network of the calcium/calmodulin-dependent serine protein kinase CASK (Research Grants)
  - Identification of new monogenic disease genes by means of Next Generation Sequencing (Research Grants)
  - Genetic and functional studies of the microphthalmia with linear skin defects (MLS) syndrome (Research Grants)
As Participating Researcher
- Completed projects
  - GRK 1459: Sorting and Interactions Between Proteins of Subcellular Compartments (Research Training Groups)
As Project Head
- Current projects
  - KFO 5029: Precision Medicine for Early-Onset Low Bone Mineral Density Disorders (Clinical Research Units)
- Completed projects
  - Alpha-PIX: ein Protein der Signaltransduktion für die neuronale Entwicklung (Collaborative Research Centres)

Servicenavigation

Hauptnavigation

Professorin Dr. Kerstin Kutsche

Additional Information

Servicenavigation

Hauptnavigation

Professorin Dr. Kerstin Kutsche

Additional Information

Textvergrößerung und Kontrastanpassung