NephCure Funded Research: Dr. Alessia Fornoni May 27, 2017 by Lauren Eva NephCure Funded Research: Dr. Alessia Fornoni Dr. Alessia Fornoni is a physician scientist focused on better treating and one day, curing individuals with FSGS and other diseases that cause Nephrotic Syndrome. Early in her research career, she received a grant from NephCure, which enabled her to identify a new gene that plays a role in Nephrotic Syndrome. Her breakthroughs in research today could lead directly to a cure for FSGS. Recently, she shared with us her recollections of that experience and what receiving that grant meant for her work. -NKI I grew up on a goat farm in Italy. When I was 8, a local physician buying cheese at our farm encouraged my parents to send me to school in a nearby city. It was there that I first set my sights on becoming a doctor. Medical school brought me to the United States where, after several years in research, I became a nephrologist. Early in my nephrology training, I was fortunate to receive funding from NephCure. The grant I received from NephCure truly catapulted my career and solidified my interest in glomerular diseases like FSGS. In 2008, as a young investigator at the University of Miami, my NIH-funded research was focused on diabetic kidney disease. One day, I was approached by the Chief of Kidney and Pancreas transplantation, Dr. George W. Burke, who shared with me interesting results he gathered when utilizing rituximab in patients with post-transplant proteinuria. His findings sparked my interest—Why did a drug that was used primarily to treat cancer by depleting immune cells also seem to improve these patients’ kidney disease? I decided to investigate this phenomenon further. Dr. Alessia Fornoni With my team, I studied 27 individuals with primary FSGS who received kidney transplants. We were able to prove that preventive treatment with rituximab can reduce the chance of recurrence of proteinuria in patients with FSGS after their kidney transplant. This was groundbreaking. We hoped that our data could help patients with kidney failure due to FSGS, who are tragically at a 30-80% risk of redeveloping the disease after a kidney transplant. At this point, I knew that a new study was needed to confirm my findings and to demonstrate the direct mechanisms by which rituximab may protect the kidney. I had more questions and knew that there was more to learn. But without additional funding, I would not have been able to continue. I turned to NephCure Kidney International. Supporters like you have helped NKI create a research award program, open exclusively to glomerular disease researchers who have a focus on finding a cure for affected families and patients. Through this program, I applied for and received a Bridge Grant that allowed me to continue my work on rituximab. Because of this funding from NephCure, we made significant advancements in the field.We created a screening that enabled us to predict which patients would develop recurrent FSGS after their transplant. We also identified a new gene (SMPDL3b) that plays a role in Nephrotic Syndrome. This gene can now be targeted and used to help create new drug treatments. These discoveries give other researchers in this field building blocks to learn more about FSGS, potentially leading to additional breakthroughs. Before our discoveries with rituximab, I was primarily focused on diabetic kidney disease. Today, due in part to funding from NephCure which advanced my work, I have developed a strong interest in studying rare glomerular diseases, like FSGS. And like me, when you look at a list of the top glomerular disease researchers in this field, many of them received funding or other support from NephCure at some point in their career. Your donation to NephCure makes a difference. For me personally, you have allowed me to reach breakthroughs in my work on FSGS and other glomerular diseases. Can you make a donation today to ensure that research into Nephrotic Syndrome and FSGS can continue? Your gift can help support scientists early in their career, as I once was, who need additional support to study these rare kidney diseases. My battle to find a cure for patients with glomerular disease continues today. Recently, I discovered that a compound called hydroxypropyl beta cyclodextrin (HPβCD) may have benefits in the treatment of certain types of kidney disease. HPβCD has already shown promising pre-clinical results and is now being developed by Variant Pharmaceuticals to treat FSGS. I am hopeful about its potential to delay the progression of this chronic and often times debilitating disease. Thank you for your support thus far in our journey, and thank you for working alongside me in our joint effort to eliminate FSGS and other diseases that cause Nephrotic Syndrome. Together, I know that one day soon, we will find a way to eliminate the suffering caused by this condition. With gratitude, and with the commitment to work with you in finding a cure and training the next generation of physician scientists, Alessia Fornoni, MD, PhD Alessia Fornoni, MD, PhD, is a professor of medicine at the University of Miami Miller School of Medicine, the Peggy and Harold Katz Family Chair, the Director of the Peggy and Harold Katz Family Drug Discovery Center, and the newly named chief of The Katz Family Division of Nephrology and Hypertension. Dr. Fornoni’s research, which has been NIH-funded for the past 10 years, focuses on podocytes and mechanisms of proteinuria, lipid biology, insulin signaling, drug development, and target identification. Her clinical interests are in the area of diabetic kidney disease and of rare glomerular disorders, such as focal and segmental glomerulosclerosis, and Alport syndrome. As a mentor, Dr. Fornoni has trained more than 20 pre- and postdoctoral research fellows, several of whom have gone on to faculty or academic/research positions. She has published more than 90 original articles and is an internationally known lecturer.