Elena Zion, MD

2025 Ben J. Lipps Research Fellowship Award

Institution: Boston Children's Hospital, Harvard Medical School

Project Title: AAV-based gene replacement therapy in mouse models of RCAD due to Hnf1b loss

How would you sum up your overall research focus in one sentence?

My research focuses on establishing gene replacement therapy for HNF1B-related kidney disease using mouse models.

Provide a brief overview of the research you will conduct with help from the grant.

HNF1B-related disease, which leads to Renal Cysts and Diabetes Syndrome (RCAD), is a significant monogenic cause of chronic and end-stage kidney disease. My research aims to establish a therapeutic strategy targeting this specific genetic defect through adeno-associated virus (AAV)–mediated gene replacement therapy using hnf1b-deficient mouse models. I will test the hypothesis that AAV-mediated overexpression of wild-type human HNF1B can rescue the RCAD phenotype in both recessive and dominant mouse models. Demonstrating this proof of principle would pave the way for developing a gene replacement therapy for human RCAD, which presents a broad therapeutic window due to its relatively slow progression, often taking years.

What inspired you to focus your research in this area?

My clinical training—both in general pediatrics and specifically in pediatric nephrology—underscored the urgent need for more personalized, precision medicine approaches, starting with the genetic and molecular basis of renal diseases and progressing toward disease-modifying and potentially curative treatments.

What impact do you hope your research will have on patients?

I hope that my research will contribute to the development of new generation of therapies for kidney diseases by shifting the focus from symptom management and slowing progression to targeting the underlying genetic cause.

What are your career goals at the end of the grant period? Five years out? Ten years out?

My long-term goal is to establish an independent physician-scientist career to investigate the genetic causes of renal disease and to explore the personalized pathogenic mechanisms, that can be translated to diagnostic, prognostic, and therapeutic applications, bridging the gap between bench and bedside. As medical education has always been an important aspect of my clinical career, I hope to have the privilege to train the next generation of physicians and researchers in the field of nephrology.

What advice would you give to others to encourage them to apply for this grant funding?

First—just try! The process of applying is valuable in itself: it forces you to sit down, organize your research, refine your methodology, and critically evaluate your project's strengths and areas for growth. You may even come up with new ideas that take your work to the next level. And who knows—you might end up getting it!

Something you may not know about me is…

I speak three languages and really enjoy attending ballet performances whenever I can.

In my free time I like to…

Spend my time with my family, read and play video games.