Clinical Advisory Board
Pr Bertrand Knebelmann MD, PhD, is Professor of Nephrology at Université Paris Cité, and Necker Hospital in the Department of adult nephrology, dialysis and transplantation in Paris, France.
He is co-director of the Reference Center for Rare Disease for Hereditary Renal Diseases (MARHEA) and co-director of the Reference Center for Idiopathic Nephrotic Syndrome. Through these two centers, he is an active member of the European Reference Network for Rare Disease, ERKNet.
Pr Knebelmann has specific expertise in the field of genetic kidney diseases including Polycystic Kidney disease, Autosomal Dominant Tubulointerstitiel Kidney Diseases (ADTKD), Alport syndrome, hereditary FSGS, Cystinuria, Primary Hyperoxaluria and other hereditary stone diseases.
He is PI or coIP for several therapeutical trials in the field of ADPK, Alport syndrome, FSGS, Cystinuria, dRTA, Hyperoxaluria, idiopathic NS, Membranous Nephropathy. He is a member of the French and European societies of nephrology, a reviewer for several main journals in the field.
He has published over 175 original papers and book chapters.
Rachel graduated from Nottingam University Medical School in 1994. She trained in clinical pediatrics in Nottingham, London and the South Western Deanery and she completed subspecialty training in Paediatric Nephrology in Bristol.
She was awarded a Wellcome Trust Research Training Fellowship in 2004 and completed her PhD studying circulating mediators of podocyte injury in proteinuric states in 2007. She was appointed to an Academic Clinical Lecturership in 2007. In 2010 Rachel was awarded a Stepping Stones Fellowship from the University of Manchester and a Wellcome Trust Intermediate Clinical Fellowship to establish her research group and to continue her research focused on understanding mechanisms of glomerular disease. Specifically, she aims to understand how the glomerular filtration barrier is formed, maintained during life and altered in disease with a particular focus on cell adhesion and extracellular matrix in the glomerulus.
Dr. Alessia Fornoni is a Professor of Medicine, Molecular and Cellular Pharmacology, and Biochemistry at the University of Miami Miller School of Medicine. She serves as the Director and Chair of the Peggy and Harold Katz Drug Discovery Center.
Dr. Fornoni gained experience in drug development at Hoffmann-La Roche in Basel and is the founding scientist of several start-up companies. Her research is supported by grants from the NIH, industry, and private foundations.
She has received numerous prestigious awards, including membership in the American Society of Clinical Investigation (ASCI, 2017), the Association of American Physicians (AAP, 2021), and the Florida Academy of Science, Engineering, and Medicine (ASEMFL, 2023). Dr. Fornoni serves on the editorial boards of the Journal of Clinical Investigation and Kidney International and was the Deputy Editor of JASN in 2024. She began her term as the At-Large Councilor for the ASN Council in January 2025.
As a recipient of multiple mentorship awards, Dr. Fornoni has guided trainees who now hold leadership positions in academic institutions worldwide. As the Assistant Dean for Research Training and Development, Co-Director of the MD/PhD MSTP program and the CTSI K12 program, and Director of an NIH-funded summer school in Nephrology, she is deeply committed to mentoring students and junior faculty on their paths to successful academic careers.
Through her pioneering work on insulin signaling, cholesterol metabolism, and sphingolipid-related pathways, Dr. Fornoni has uncovered novel pathogenetic mechanisms and therapeutic approaches for glomerular disorders, which have successfully progressed to ongoing clinical trials. She serves as a grant reviewer for the Alport Foundation.
St Peter’s Chair of Nephrology, University College London and Honorary Consultant, Royal Free Hospital and Great Ormond Street Hospital, London, UK
Professor Gale directs the North/Central London translational renal genetics service that has pioneered genomic testing and clinical trial participation among patients with rare kidney diseases, including polycystic kidney disease, C3 glomerulopathy and Alport syndrome. He discovered and identified the genetic basis of the diseases HIF2α erythrocytosis with pulmonary hypertension and CFHR5 nephropathy, an inherited form of C3 glomerulopathy, endemic in Cypriots. He leads the Genomics England Therapeutic Innovation and Trials Research Network and developed the criteria for kidney disease genomic testing within mainstream UK healthcare. His research group has conducted large-scale genomics studies in numerous rare kidney diseases and, as director of the RaDaR registry (www.rarerenal.org) that includes over 35,000 patients recruited at >100 hospitals, his team has reported clinical outcomes in 28 rare renal conditions, revealing the disproportionate impact that rare kidney diseases have on the overall burden of kidney failure.
