Filippo Pinto e Vairo, M.D., Ph.D.

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SUMMARY

Filippo Pinto e Vairo, M.D., Ph.D., is a clinical geneticist with particular interest in lysosomal diseases and precision medicine. His research goal is to develop and implement novel methodologies to identify genetic variants that cause disease and to functionally validate variant pathogenicity.

Focus areas

• Lysosomal diseases. Dr. Vairo's research on lysosomal diseases focuses on Gaucher disease, which is one of the most prevalent lysosomal diseases worldwide. Dr. Vairo published the first experience in the treatment of patients with Gaucher disease type III with velaglucerase alfa, and his work demonstrated the role of the treatment in the inflammatory status of patients with Gaucher disease. Through the unprecedented nature of this study on inflammatory, bone-related and neurodegeneration cytokines, Dr. Vairo was able to identify a new biomarker for the disease.
• Individualized medicine. The Center for Individualized Medicine at Mayo Clinic has launched a genomics research program specifically focused on improving the diagnostic yield from genetic testing. Dr. Vairo is part of the program team that uses new analytical methods, multiomic tests and laboratory-based functional studies to seek answers for patients for whom other testing was not sufficient to return a genetic diagnosis.
• Hereditary kidney diseases. Dr. Vairo is a member of the Nephrology Genomics Clinic within the Division of Nephrology and Hypertension. In this work, he applies state-of-the-art research tests, such as exome, genome and transcriptome analysis, to help patients with undiagnosed kidney diseases.

Significance to patient care

Dr. Vairo is the medical director of the Program for Rare and Undiagnosed Diseases in the Center for Individualized Medicine, which aims to transform clinical practice for patients. The program is establishing genomic clinical services for patients with rare diseases in close collaboration with divisions and departments throughout Mayo Clinic, improving the triaging of patients with undiagnosed diseases to facilitate better clinical care, and promoting translational research by enhancing discovery opportunities. This work will ultimately increase the number of patients who receive a genetic diagnosis and improve their clinical management and treatment.