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...at the website of the Krawitz lab. This research group is part of the Opens external link in current windowInstitute of Medical Genetics Human Genetics and the Opens external link in current windowDepartment of Medical Genomics at the CharitéUniversitätsmedizin Berlin.

The institute is part of the Opens external link in current windowCharité Centre for Gynecology, Perinatal, Pediatric and Adolescent Medicine with a Perinatal Center and Human Genetics. Among the 17 Charité Centres it is the largest and includes 12 clinics and 3 institutes.

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GPI-anchor deficiencies
In all eukaryotes there is a complex in the plasma membrane with the key task of anchoring glycoproteins on the cell surface, called the glycosylphosphatidylinositol anchor (GPI-anchor). GPI-anchored proteins (GPI-APs) play a central role in signal transduction, cell adhesion, and antigen presentation...
Doctors
Patients with intellectual disability, epilepsies and/or hyperphosphatasia (elevated alkaline phosphatase activity in the serum) and/or characteristic facial features a GPI-anchor deficiency should be suspected. For such cases we offer the molecular diagnostics of all known genes of the GPI-anchor synthesis on a research basis (GPI-gene panel diagnostics). For this analysis we need DNA (>3µg) or EDTA blood (>2ml)...
Patients
Molecular Genetics: All congenital GPI-anchor deficiencies represent rare disorders. About one in 10,000 newborn is affected by a GPI-anchor deficiency. Cases have been reported from all over the world and it seems to be a disorder that occurs in all ethnicities. GPI-anchor deficiencies are a recessive disorder, that means parents of affected individuals are unaffected and only carry the genetic defect...
Current issues
News of the research group and scientific publications
Research
Identification of pathogenic sequence variants: Up to date disease causing mutations have been identified in eleven genes of the GPI-anchor synthesis pathway. However, currently in about half of the suspected cases of GPI-anchor deficiencies no causal mutation is detected. We apply next-generation sequencing methods and statistical analysis tools to identify further, yet unknown genes that play a role in the GPI-anchor synthesis pathway...

News

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