Dr. Michael Zimmermann Receives R35 Grant to Study Rare Disease
Michael Zimmermann, PhD, Director of the Computational Structural Genomics Unit at the Mellowes Center, has been awarded a five-year, $1.9 million R35 grant for his project titled “Advancing Genomic Interpretation for Chromatin Remodeling Enzymes” from the . The R35 mechanism highlights investigators with an outstanding record of research productivity and provides long-term support for projects with significant potential.
Dr. Zimmermann’s lab specializes in developing novel approaches for interpreting the mechanistic effects of genetic mutations using comprehensive protein structure- and dynamics-based computational modeling. This newly funded project will focus on studying BAF, which is a protein complex that regulates gene activity via modulating chromatin structure. BAF complex mutations cause multiple neurodevelopmental disorders. However, little is understood about the detailed mechanistic functions for most pathogenic mutations.
Only a small percent of the sequenced variations are pathogenic, leaving the majority (97%) as uncertain significance. Thus, a structural genomics approach is needed to increase the number of genetic variants that have a mechanistic interpretation. Dr. Zimmermann hopes to advance our ability to understand BAF and other chromatin remodeling complexes, initially leading to increased diagnostics, and ultimately leading to improved therapeutics and patient care.