Post-doctoral Fellow Project: Discovery and modeling of genetic forms of childhood kidney disease

Contact information: Amar Majmundar, MD, PhD Nephrology Attending, Division of Nephrology Department of Pediatrics, Boston Children’s Hospital Instructor of Pediatrics, Harvard Medical School

Email: amar.majmundar@childrens.harvard.edu

Position and Project Descriptions: Full-time post-doctoral fellow to begin Summer 2021 for 2-year commitment. In the first project, the fellow would perform cell biology and mouse biology experiments to explore TRIM8 variants as a cause of nephrotic syndrome in children (see TRIM8 publication below). Our group is actively developing CRISPR cell and mouse models of this disease to understand the pathogenic mechanisms by which patient variants cause disease and develop biological assays for future therapeutic studies. Research responsibilities would include (i) investigating cellular dysfunction caused by TRIM8 variants in knock-in cells, (ii) exploring what protein interactions and enzymatic functions of TRIM8 are altered by these variants, (iii) modeling TRIM8 variants in a CRISPR-based knock-in mouse model. In a second project, we are beginning a two-year study at Children’s where we will be recruiting and performing genomic analyses in subjects with early onset kidney stone disease. Research responsibilities would include (i) conducting chart review and data collection of newly recruited patients, (ii) receiving training in and performing exome and other genomic analyses, (iii) participating in review of clinical genetics findings with our clinical nephrology team. The ideal candidate would have significant experience in wet laboratory research, and I would train them in genomics.

More details in the PDF below