Amar J. Majmundar MD PhD | Principal Investigator | 2020-present
Dr. Majmundar began his medical and graduate training in the Combined Degree and Medical Scientist Training Programs at the University of Pennsylvania School of Medicine (2004-2013). There, he earned a PhD in Cell and Molecular Biology in the laboratory of M. Celeste Simon PhD. Using multiple conditional mouse models and muscle progenitor culture models, he discovered that the oxygen sensing factor Hif1α specifically regulates adult skeletal muscle regeneration, but not embryonic muscle development, by inhibiting WNT signaling.
He, subsequently, completed pediatrics training in the Boston Combined Pediatrics Residency program at Boston Children’s Hospital (BCH) and Boston Medical Center followed by pediatric nephrology fellowship training at Boston Children’s Hospital. He conducted post-doctoral fellowship research with Dr. Friedhelm Hildebrandt. Using exome sequencing, he discovered novel genetic causes of steroid-resistant nephrotic syndrome/focal segmental glomerulosclerosis (SRNS/FSGS) in human NOS1AP and TRIM8 variants. He investigated the pathogenesis of these human mutations by using podocyte cell culture and generating a novel murine knockout model of nephrotic syndrome. He further explored the Mendelian genetic landscape of pediatric and adult nephrolithiasis using gene panel and exome sequencing techniques. In the process, he determined that dominant OXGR1 variants are a potentially novel cause of nephrolithiasis.
After completing his training, Dr. Majmundar initiated an independent basic/translational research laboratory focused on identifying novel genetic causes of human kidney disease and delineating the mechanisms of these diseases via genomics, cell systems, and mouse models. In parallel, he has co-initiated a kidney genetics clinic at BCH.
