Spotlight on PKDF grantees and publications

PKDF funds researchers and clinician scientists across the world who are dedicated to finding  answers to help us better understand polycystic kidney disease. Here are some highlights of their work.

Harini Ramalingam, Ph.D.
University of Texas Southwestern Medical Center

“ADPKD is the most common genetic cause of renal failure. Current treatment options are limited. miRNAs have emerged as novel pathogenic regulators of ADPKD progression. Anti-miR-based drugs represent a new therapeutic modality to treat ADPKD patients.” – Harini Ramalingam, Ph.D.

Learn more about Dr. Ramalingam’s research fellowship and others from 2019 here.

Whitney Besse, M.D.
Yale University

“Clinical genetic testing is not without challenges, but with careful analysis and collaboration, it has the potential to accelerate progress in our understanding of the mechanistic basis of kidney disease and development of targets for treatments that could alter the landscape of both inherited and acquired kidney disease.” – Whitney Besse, M.D.

Learn more about Dr. Besse’s research grant and others from 2018 here.

Owen Woodward, Ph.D.
University of Maryland Baltimore

My lab is working on growing our understanding of how kidney cysts start to grow. We grow kidney tubules in gel so they can form their normal 3D shape. Then because of their special engineering, we can cut out the PKD DNA just by adding a chemical and watching the tubes turn into cysts. We can stop this process at different time points to ask, “What has changed?” Which proteins have become more abundant, which are less, which genes are turned on, which are turned off? By knowing the very first things that start the cyst growing, maybe we can target this process and stop new cysts from forming. Fewer cysts mean lower disease burden. – Owen Woodward, Ph.D.

Learn more about Dr. Woodward’s research grant and others from 2018 here.

Yong Yu, Ph.D.
St. John’s University

Our research shows that both PC1 and PC2 proteins work tightly together to form the functional channel complex, which plays essential roles in conducting ions, including Ca2+, across the cell membrane. This role may be essential for keeping the normal development of the kidney and preventing cyst formation. – Yong Yu, Ph.D.

Learn more about Dr. Yu’s research grant and others from 2018 here.

Sorin Fedeles, Ph.D.
Yale School of Medicine

I strongly believe that given the combination of advances in genome sciences, AI-enabled drug screening, and pre-clinical model development, the PKD therapeutic landscape as a whole is nearing an inflection point—that is, a stage where novel disease biomarkers in tandem with personalized pharmacogenomic approaches can inform clinical decisions for the next generation of PKD treatments. – Sorin Fedeles, Ph.D.

Learn more about Dr. Fedeles’s research grant and others from 2019 here.

Daria Ilatovskaya, Ph.D.
Medical University of South Carolina

My primary research focus is hypertension and PKD, and the dietary aspects of their development. I am interested to know how the salt we eat can affect these diseases, what damage too much or too little salt can cause, and what the role of hormones is in their progression. – Daria Ilatovskaya, Ph.D.

Learn more about Dr. Ilatovskaya’s research grant and others from 2018 here.

Rebecca Walker, Ph.D.
University of Maryland

I did my doctorate in Dr. Dominic Norris’ lab in Oxford, UK. His lab focuses on “cilia in development and disease,” and had recently worked on a mutant mouse that had left-right patterning defects. This mouse actually had a mutation in Polycystin-2 which caused polycystic kidney disease. Working on this mouse was the basis for my thesis and made me the pioneer of kidney research in Dr. Norris’ lab. This is where my love of kidneys and PKD flourished! – Rebecca Walker, Ph.D.

Learn more about Dr. Walker’s research fellowship and others from 2019 here.

Alessandra Boletta, Ph.D.
San Raffaele Scientific Institute

We’ve discovered that the use of a simple pharmacological compound called 2-deoxy-D-glucose effectively retards disease progression. We also discovered that a much broader metabolic reprogramming occurs in the disease, including compensatory glutaminolysis. Our prediction is that acting on both simultaneously will result in an amplification (rather than in a sum) of the efficacy of treatment, and we are currently testing this hypothesis on animal models. – Alessandra Boletta, Ph.D.

Learn more about Dr. Boletta’s research grant and others from 2018 here.

Feng Qian, Ph.D.
University of Maryland

“Our results suggest that (i) PC1 may form a complex with itself and (ii) PC1 and PC1/PC2 may interact with different mitochondrial proteins that are critical for mitochondrial structure and function. This information is important for our understanding of polycystins regulation of mitochondrial function, which was previously implicated in ADPKD progression. – Feng Qian, Ph.D.

Learn more about Dr. Qian’s research grant and others from 2019 here.

Katharina Hopp, Ph.D.
University of Colorado – Denver

Using various mouse models and cellular co-culture systems, we are trying to map how the communication network among immune cells and the cystic epithelium differs in an ADPKD versus healthy kidney with the hypothesis that cystic epithelial cells have adapted to modulate their cross-talk with immune cells to create an immunosuppressive environment supportive of cyst expansion. – Katharina Hopp, Ph.D.

Learn more about Dr. Hopp’s research grant and others from 2018 here.

Liudmila Cebotaru, J.D., M.D.
Johns Hopkins Medical Center

Our research demonstrates that the corrector, VX-809, reduces cyst growth, both in mice and in 3D models. The mice had better renal function and less cystic growth. The VX-809 also reduced the levels of heat shock proteins in the mouse kidneys, consistent with the restoration of cellular proteostasis. – Liudmila Cebotaru, J.D, M.D.

Learn more about Dr. Cebotaru’s research grant and others from 2019 here.

Karel Liem, Ph.D.
Yale University

Polycystin proteins function in renal primary cilia to regulate a pathway important to kidney functional homeostasis. In mouse models of ADPKD, we found that the Hedgehog pathway had no significant effect on polycystic kidney disease initiated by Pkd1 inactivation, excluding it as a functional cell-autonomous component of kidney cyst formation in these ADPKD models – Karel Liem, Ph.D.

Learn more about Dr. Liem’s research grant and others from 2018 here.

Xiaogang Li, Ph.D.
Mayo Clinic

 Our research will identify the methylation of specific genes in PKD associated signaling pathways and in pathways not previously studied in PKD, which should forward our understanding about the roles of DNA methylation in ADPKD progression.  – Xiaogang Li, Ph.D.

Learn more about Dr. Li’s research grant and others from 2018 here.

Last updated April 2021