Research projects
Amar Majmundar, MD, PhD, is currently an attending pediatric nephrologist at Boston Children's Hospital and 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.
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Genetics of Kidney Stones
Discovering novel Mendelian genetic causes of pediatric kidney stone diseases using human genomics and exploring these novel etiologies in cell-based assays and mouse models.
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NOS1AP
Investigating the biological mechanisms by human variants in the actin regulatory gene NOS1AP cause a pediatric glomerulopathy using cellular and mouse models.
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TRIM8
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.