Michael J. Ackerman, M.D., Ph.D.
My research focuses on elucidating the genetic underpinnings and molecular basis of cardiovascular disease. Specifically, I utilized whole exome sequencing to identify a novel Noonan syndrome causative gene, and my future work will explore how mutations in this identified gene lead to the development of disease.
Noonan syndrome is an autosomal dominant developmental disorder and approximately 20% of cases are genetically elusive. Identifying the remaining Noonan syndrome genes is critical for proper patient diagnosis and management, as well as understanding genotype-phenotype correlations.
July 26, 2017