Genotip-fenotip korelacija u Alportovom sindromu i nefropatiji tankih glomerularnih bazalnim membrana

Opis projekta
Alport's syndrome (AS) and thin basement membrane nephropathy (TBMN) are genetically heterogenic, structural disorders of glomerular basement membrane (GBM). Genetic base of both disorders lies in mutation of genes which encode isoforms of collagen type IV. Major symptom of both disorders (AS and TBMN) is hematuria, and the main difference between them, is clinical course and progression of the disease. The distinction between AS and TBMN is important but may be difficult. Our plan is to conduct multidisciplinary, nationwide, collaborative research in which seven leading Croatian nephrology, pediatric nephrology and nephropathology institutions (Dubrava University Hospital Zagreb, Merkur University Hospital Zagreb, University Hospital Centers Zagreb, Rijeka and Split, University Hospital Center Sisters of Mercy, Zagreb and Children's Hospital Zagreb) will participate. We plan to collect clinical data, about both renal and extra-renal symptoms, histological data (including staining for collagen IV chains), as well as, family study data on Croatian AS and TBMN patients. The combined approach of multiplex PCR amplification, amplicon quantification, and next generation sequencing for COL4A5, COL4A4 and COL4A3 gene mutation screening will be done at molecular laboratory at Department of Pathology and Center for Translational Research, University of Zagreb. School of Medicine. Main goal of our research is to identify prevalence of AS and TBMN in Croatia and to clarify these two entities histologically, genetically and clinically. Our ultimate goal is to create AS and TBMN patients' registry with clinical, histological, genetic and follow up information. Project leader is Associate Professor Danica Galešić Ljubanović, and beside her, on project will work 20 scientists.


Šifra projekta


Vrsta projekta

Vrsta financiranja
Kompetitivno projektno financiranje

HRZZ - Hrvatska zaklada za znanost

Detalji financiranja
 IP - Istraživački projekti

Ukupan iznos financiranja projekta
969.952,00 HRK

Trajanje projekta
01-09-2015 - 09-01-2019

Ustanova - uloga
Medicinski fakultet, Zagreb - Nositelj (969.952,00 HRK) [01-09-2015 - 09-01-2019]

Osoba - Ustanova - uloga [pocetak - zavrsetak]
Danica Galešić-Ljubanović (MBZ: 203674, CROSBI: 31146) - Medicinski fakultet, Zagreb - Voditelj projekta [01-09-2015 - 09-01-2019]