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.
-
TRIM8 and condensate disorders in the kidney.
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. We are now considering condensation in other forms of genetic kidney disease.
-
NOS1AP signaling in the pivotal filtering cell, podocytes.
Investigating the role of NOS1AP-dependent signaling in filter function through genetics, proteomics, molecular biology, and mouse model approaches.
-
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.