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Kidney and Liver Diseases

The IGM’s precision medicine initiative in kidney and liver diseases will endeavor to incorporate genomic workups into the standard care for individuals presenting for evaluation at Columbia University Medical Center/New York-Presbyterian and will also serve as a tool for optimal allocation of organs for transplantation.

Recently, it has been demonstrated that a significant number of kidney disorders can be attributed to previously unsuspected but identifiable genetic mutations. In the majority of these cases, the genomic lesion was unsuspected upon initial clinical assessment and subsequent genomic information was able to reclassify the disease or provide additional information with direct implications for clinical trials or treatment.

A genomics approach will also be used to identify genetic forms of nonalcoholic fatty liver disease (NAFLD) among pediatric patients and young adults, as well as patients with severe NAFLD-induced liver damage requiring transplant. NAFLD affects as many as one third of adults and ~20% of adolescents in developed countries. This highly heritable disease is strongly correlated with metabolic syndrome and cardiovascular disease. We hypothesize that significant portions of these cases have a genetic syndrome that can be diagnosed using sequencing technology. Genomic evaluation will facilitate a personalized early intervention before complications become clinically detectable.