Ami K. Mankodi, M.D.

Dr. Ami Mankodi

Ami K. Mankodi, M.D.

Hereditary Muscle Diseases Unit, Neurogenetics Branch (NGB)

BG 35 RM 2A-1002

Dr. Mankodi received an MD from Mumbai, India. She completed neurology residency at the Johns Hopkins Hospital. She did neuromuscular fellowship at University of Rochester, NY. Her postdoctoral work with Dr. Charles Thornton was focused on the disease mechanisms in myotonic dystrophy and oculopharyngeal muscular dystrophy. She was appointed as Assistant Clinical Investigator in 2011 and became an investigator in 2014. She has received the Thomas J. Preziosi Award for Clinical Excellence in Patient Care at Hopkins and the Henry F. McFarland Transition to Independence award at NINDS. Dr. Mankodi's research goals are to study disease mechanisms and develop treatments in hereditary skeletal muscle diseases. 

The goals of our research are to explore disease mechanisms in hereditary adult-onset skeletal muscle diseases with a focus on identifying targets for treatment and characterizing outcome measures in preparation for drug therapies.  

Currently, our laboratory group is focused on distal myopathies caused by myofibrillar myopathies which are a rare inherited degenerative skeletal muscle diseases characterized by myofibrillar dissolution and abnormal accumulation of degraded myofibrillar proteins. Despite a high proportion of undiagnosed affected individuals, at least 9 genes have successfully been identified. Our group has recently discovered that some mutations in LDB3 reside in a region that directly interacts with skeletal muscle actin filaments and causes the disruption of actin cytoskeleton in a splice-isoform specific manner in transfected mouse skeletal muscle cells and in electroporated tibialis anterior muscle fibers of adult mice. Through national and international collaborations, we are now uncovering the structure of the LDB3 and skeletal muscle actin interaction using cryo-electron microscopy and x-ray crystallography. We are developing mouse models of myofibrillary myopathy, which would be important tools in our understanding of underlying disease mechanisms, in identifying targets for treatment and in screening for novel drug therapies.

Our clinical team is focused on a rare degenerative multisystem disorders with heterogeneous clinical manifestations – myotonic dystrophy (DM).  Muscles in the distal leg, hand and forearm are affected early and prominently in DM type 1. Our group has a keen interest in identifying tools to measure the hand and distal leg function particularly in regards to the effects of myotonia and weakness. We are also developing clinical and imaging biomarkers of pulmonary function in DM1 patients including assessment of diaphragm and intercostal muscles. Through the Myotonic Dystrophy Collaborative Research Network (DMCRN) and NIH initiated clinical studies, we are characterizing clinical endpoints, imaging and molecular biomarkers of disease progression, disease mechanism and therapeutic response in DM patients.