For the purposes of this program, “junior faculty” is defined as any Boston Children’s Hospital employee with a Harvard faculty appointment of Instructor or Assistant Professor. This award is intended to support and help establish independent research careers of Junior Faculty members who propose projects that meet the goals of The Manton Center. Research projects are supported for up to two years.
2020 Junior Faculty Career Development Award
Amar Majmundar, MD, PhD
Project title: Delineating the pathogenesis of NOS1AP and TRIM8 mutations in monogenic nephrotic syndrome
Although a rare disease, steroid-resistant nephrotic syndrome (SRNS) is the second leading cause of chronic kidney disease in children. A genetic cause can be identified in 11-30 percent of cases. Despite this knowledge, children with genetic SRNS are resistant to all current therapies and invariably progress to end-stage renal disease, necessitating dialysis and renal transplant. Dr. Majmundar has discovered two novel genes causing SRNS. With these awards funds, he will employ cutting edge cell culture, proteomics and mouse model approaches to investigate the disease mechanisms underlying these genetic forms of SRNS, with the goal of constructing a molecular roadmap for therapy development.