Enrico Cocchi, MD
Enrico Cocchi, MD
2021 Jared J. Grantham Research Fellowship
Institution: Columbia University
Project Title: Somatic Mutations in Kidney Disease
How would you sum up your research in one sentence?
My research goal is to investigate the unknown role of DNA somatic mutations in kidney disease pathogenesis.
Provide a brief overview of the research you will conduct with help from the grant.
Somatic mutations, unlike germline (or inherited) mutations, occur after zygote formation and are thus shared only by a part of the organism tissues. This makes them more difficult to detect and to differentiate from technical artifacts. Current clinical genetics analyses applied in nephrology are limited to germline mutations, potentially ignoring several explainable cases due to missed somatic mutations. The impact of somatic mutations is well known in oncology and awareness is rapidly increasing in several other medical fields. With this grant I will be able to study the role of somatic mutations in kidney disease on a cohort of 3,315 patients, and potentially provide them some diagnoses they never got.
What impact do you hope your research will have on patients?
This project will provide further insight into kidney disease pathogenesis and has the potential to provide several diagnoses to otherwise undiagnosed kidney cases.
What are your career goals at the end of the grant period? Five years out? Ten years out?
At the end of the grant period, I hope to play a key role in incorporating somatic mutation into the field of kidney genetics. I also plan on continuing my scientific career in order to further elucidate their role in kidney disease pathogenesis. My long-term goal is to merge my clinical and research skills, to work as an independent investigator at an academic institution, focusing on the continuous improvement of genetic techniques applied to clinical practice, and to improve our care for patients with kidney disease.
What inspired you to focus your research in this area?
Somatic mutation's role in human disease is a field that owes its impetus to oncology, in which it is currently one of the main focuses. Several other medical fields, such as cardiology, neurology and immunology, have recently started to recognize the role and importance of somatic mutation in human disease pathogenesis. Nephrology, among all medical specialties, shares many genetic and pathogenesis mechanisms with these fields, but somatic mutations in kidney disease have never been investigated, due to technical and bioinformatics difficulties. This gap of knowledge may be the cause of a significant number of undiagnosed genetic cases in nephrology, and my mission is to apply the most cutting-edge bioinformatics analyses to overcome current barriers and give those patients an answer.
Something you may not know about me is…
I'm proficient in Spanish and Catalan, as I took one year of med school at Barcelona University back in 2011
In my free time I like to…
I love to play and study chess and go for bike rides.