In 1999 MCMB started research on autosomal dominant polycystic kidney disease (PKD 1) which was performed in collaboration with Dr. M. Bidovec from the Clinic for Paediatric Nephrology and Radiology Unit in Ljubljana and with kind supervision of Prof. Peter C. Harris at Mayo Clinic in U.S.A., where our PhD student Lana Strmecki payed a fruitful research stay in 2001. At that time this was uniquely a basic research and did not reach any clinical institution as diagnostic practice.
Supporting research projects:
- Interinstitutional national research program P1-0104 Functional Genomics and Biotechnology for Health (R. Komel); 1999-2004 and 2004-2008.
- J3-1601 Looking for PKD1 gene mujtations and determination of modifying factors having impact on early onset of ADPKD; national basic research project, L. Strmecki, 1/1/1999―30/6/2000.
Clinical partner:
- Clinic for Paediatric Nephrology and Radiology Unit in Ljubljana (Dr. Matjaž Bidovec, M.D.).
Support from abroad:
- Mayo Clinic, Division of Nephrology and Hypertension, Rochester, United States (Prof. Peter C. Harris, M.D.)
Researchers involved:
| Researcher | Position |
| Radovan Komel | Head of Department / Project leader |
| Katja Vouk | MSc student |
| Lana Strmecki | Post-doctoral / P.I. |
Education:
| Student | Thesis | Title | Year | Supervisor |
| Katja Vouk | PhD | Linkage analysis and looking for mutations at Slovenian families of autosomal dominant polycystic disease (ADPKD). | 2001 | Radovan Komel |
Selected publications:
- Vouk K. et al. (2006): PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease. BMC Med. Genet. 7(6): [1-26].
- Rossetti S. et al. (2001): Mutation analysis of the entire PKD1 gene : genetic and diagnostic implications. J. Hum. Genet. 68(1): 46-63.
- Rossetti S. et al. (2001): The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. Am. Soc. Nephrol. 13(5): 1230-1237.
- Vouk K. et al. (2000): Fluorescent multiplex PCR and capillary electrophoresis for analysis of PKD1 and PKD2 associated microsatellite markers. Biotechniques 29(6): 1187-1189.
- Pritchard L. et al. (2000): A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum. Mol. Genet. 9(18): 2617-2627.
- Vouk K. et al. (1999): Linkage of Slovenian ADPKD families to PKD1 locus. J. Hum. Genet. 7, Suppl. 1: 139.