Newcastle University

3

OFHS240146

Specific aims: 1. Identify Risk Alleles: Identify specific genetic variations (alleles) associated with an increased risk of kidney failure and cystic kidney disease by analyzing large-scale genomic datasets. 2. Characterize Genetic Pathways: Investigate the biological pathways and mechanisms through which these risk alleles contribute to the development and progression of kidney disease. 3. Develop Predictive Models: Create predictive models that can assess an individual’s risk of developing kidney disease based on their genetic profile. 4. Validate Findings: Conduct validation studies in diverse populations to confirm the association of identified risk alleles with kidney disease, ensuring the findings are applicable across different demographic groups. 5. Explore Potential Therapeutic Targets: Identify potential therapeutic targets within the genetic pathways involved, which could lead to the development of new treatments or interventions for kidney disease. 6. Contribute to Personalized Medicine: Contribute to the field of personalized medicine by using genetic information to tailor prevention and treatment strategies for individuals at high risk of kidney disease. Kidney diseases, such as kidney failure and cystic kidney disease, have been shown to have a significant genetic component. Family history and genetic predisposition are known risk factors, suggesting that specific genetic variants contribute to the onset and progression of these conditions. The availability of large-scale genomic data, along with advancements in technologies like genome-wide association studies (GWAS) and next-generation sequencing (NGS), allows for the identification of genetic variants associated with complex diseases like kidney disease. This makes it possible to explore how genetic differences contribute to disease risk. Understanding the genetic underpinnings of kidney diseases can reveal insights into the biological mechanisms and pathways involved in disease development. This knowledge can help in identifying critical molecular targets for therapeutic intervention. Kidney disease progression can vary significantly among individuals, even those with similar environmental exposures. Genetic factors likely contribute to this variability, and identifying these factors can help predict disease outcomes and personalize treatment approaches. By identifying individuals who carry high-risk alleles, it may be possible to develop early detection methods or preventive strategies, potentially reducing the incidence and severity of kidney diseases. Understanding the genetic basis of kidney disease supports the broader goal of personalized medicine.

The study on the genetics of kidney disease can benefit the public in several important ways: By identifying genetic risk factors for kidney disease, the study could lead to the development of screening tools that help detect individuals at high risk before symptoms appear. Early detection allows for timely interventions, potentially slowing or preventing disease progression. Understanding the genetic basis of kidney disease enables the development of personalized treatment plans. Healthcare providers could tailor treatments based on a patient’s genetic profile, increasing the effectiveness of therapies and reducing the risk of side effects. The study could uncover new biological pathways involved in kidney disease, leading to the identification of novel therapeutic targets. T By enabling earlier diagnosis and more targeted treatments, the study has the potential to improve health outcomes for people with or at risk for kidney disease. This could lead to longer, healthier lives and reduce the burden of kidney disease on patients, families, and healthcare systems. The findings from the study could raise public awareness about the genetic factors involved in kidney disease, encouraging individuals to consider genetic testing and engage in proactive health management.

Public Health Research

13/02/2025

17/11/2024

TRE