Periodic Reporting for period 1 - GeneCKD (Deciphering the genetic basis of chronic kidney disease towards prevention and personalized therapy)
Periodo di rendicontazione: 2022-07-01 al 2024-12-31
Chronic Kidney Disease (CKD) is a major global health issue, impacting millions worldwide. The disease often progresses silently, making early detection challenging. While CKD is frequently linked to conditions such as diabetes and high blood pressure, recent research underscores the significant role of genetic factors. Our project aims to explore the genetic underpinnings of CKD within the diverse Israeli population, with a particular focus on children, young adults, and minority groups. By identifying key genetic factors, we seek to enhance early diagnosis, understand disease mechanisms, and develop personalized treatments to prevent or slow CKD progression. Ultimately, our research aspires to pave the way for gene-based therapies that offer hope to those at risk or suffering from CKD, helping to reduce the global burden of this condition.
We established a national multicenter study encompassing all dialysis units in Israel. Through this initiative, we collected and analyzed genetic and clinical data from over 3,000 individuals across the country, reflecting a broad range of ethnic backgrounds. Our research uncovered that a significant proportion of chronic kidney disease (CKD) cases, particularly among children, young adults, and specific ethnic groups such as Druze and Bedouins, have underlying genetic causes. Notably, we identified under-recognized, ethnicity-specific genetic causes of CKD in approximately 45% of children and 10-20% of adults with advanced kidney disease. This finding is crucial for enabling personalized medical management. Additionally, we developed patient-specific kidney organoids to investigate how these genetic mutations affect kidney function at the molecular level. Most importantly, we created a gene-based therapy approach targeting specific genes associated with CKD to halt disease progression. Collectively, these advances offer the potential for more targeted and effective treatments for CKD.
Our project has advanced the frontiers of chronic kidney disease (CKD) research by uncovering previously unknown and under-detected genetic causes of the disease. Additionally, our development of gene-based therapies holds the promise to revolutionize CKD treatment, offering hope for personalized medicine tailored to an individual’s genetic profile. Our research underscores the need to expand genetic testing for more accurate and early CKD diagnosis, which could lead to more precise interventions. As we continue to explore these avenues, our findings have the potential to significantly impact CKD treatment and management on a global scale.