Transcript Renal Rare Disease Research - Actavis LifeCycle Challenge

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 10 000
• 18 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 1,000 000
• 8 families
• New defect in KCNJ1 gene, Bartter’s type 2
Lowe’s syndrome
1 in 500,000
Pediatric Nephrology, December 2014 10.1007/s00467-014-3013-2
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