Amar Majmundar, MD, PhD, is currently an attending pediatric nephrologist at Boston Children's Hospital and an Assistant Professor 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
- investigating biological mechanisms by human variants in actin regulatory gene NOS1AP cause a pediatric glomerulopathy using cellular and mouse models
- 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.
Learn more at the Majmundar Lab Website.