Researcher | Research Overview
Dr. Majmundar is currently an attending pediatric nephrologist at Boston Children's Hospital and an instructor of pediatrics at Harvard Medical School. Dr. Majmundar's research explores the genetic basis of pediatric kidney diseases with a focus on Mendelian genetic forms of nephrotic syndrome and kidney stone disease.
Active projects in his laboratory include discovering novel Mendelian genetic causes of pediatric kidney stone diseases using human genomics, (ii) investigating the biological mechanisms by which recessive genetic variants in NOS1AP cause a pediatric glomerulopathy via cellular and mouse models, and (iii) dissecting the biological mechanisms by which de novo variants in TRIM8 cause a syndrome of epilepsy and nephrotic syndrome in humans using cellular and mouse models.
Amar Majmundar, MD PhD (principal investigator)
Vineeta Sharma, PhD (post-doctoral fellow)
David Ball, BS (research assistant)
Lorrin Liang, BS (master's thesis student)
Researcher | Research Background
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. During his thesis research, he discovered that the oxygen sensing factor Hif1α specifically regulates adult skeletal muscle regeneration, but not embryonic muscle development, by inhibiting WNT signaling. For these studies, he generated and evaluated three mouse models and employed primary and immortalized muscle progenitor culture. His thesis research led to publications in Development, Molecular and Cellular Biology, Molecular Cell, The Journal of Clinical Investigation and Proceedings of the National Academy of Sciences.
He, subsequently, completed pediatrics training in the Boston Combined Pediatrics Residency program at Boston Children’s Hospital 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 and discovered novel monogenic causes of steroid-resistant nephrotic syndrome/focal segmental glomerulosclerosis (SRNS/FSGS) in human NOS1AP and TRIM8 mutations using exome sequencing approaches. He investigated the pathogenesis of these human mutations using cell-based assays and mouse models. 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. His findings have led to four first-authored research articles (Science Advances, American Journal of Human Genetics, Kidney International, Human Genetics) and 23 co-authored publications.
His research during fellowship and, now, as faculty have been supported by the NIH National Institute of Diabetes and Digestive and Kidney Diseases, NIH National Institute of Child Health and Human Development, the American Society of Nephrology, the Polycystic Kidney Disease Foundation, the Harvard Stem Cell Institute, and the Boston Children's Hospital Manton Center for Orphan Disease Research.