Renal Rare Disease Research Valerie Said Conti Esther Zammit Alex Felice Isabella Borg

Objectives Build renal rare disease collection at Malta BioBank Explore for new gene defects

Rare renal diseases Congenital nephrotic syndrome Congenital anomalies of the kidney and urinary tract Bartter’s syndrome Oculo-cerebro-renal syndrome of Lowe

Congenital nephrotic syndrome 1 in families over 30 years Defect in NPHS1 gene ?Modifier genes

CAKUT 3-6 in 1000 Disturbance in development of kidneys Commonest cause of failing kidneys in children Understanding how and why defects occur

Bartter’s syndrome 1 in 1, families New defect in KCNJ1 gene, Bartter’s type 2

Lowe’s syndrome 1 in 500,000 Pediatric Nephrology, December /s

Thank you Acknowledgements – LifeCycle Malta Foundation – Malta BioBank at University of Malta – Department of Health – Patients and relatives at MDH – Nursing staff at COP and PDCU at MDH