Giovanni Manfredi, M.D., Ph.D.
Finbar and Marianne Kenny Professor in Clinical and Research Neurology
My postdoctoral work focused on primary mitochondrial diseases associated with mtDNA mutations, discovering new pathogenic mutations and understanding the bioenergetic consequences of OXPHOS alterations. As a faculty at Weill Cornell Medicine, my research program has expanded the complex disease scenario of neurodegenerative diseases, focusing particularly on amyotrophic lateral sclerosis (ALS). I have authored and co-authored over 150 publications on the topic of mitochondrial dysfunction and disease. My research has been funded by NINDS for over 20 years. Our research program studies mechanisms of mitochondrial functional and structural regulation and the alterations that accompany primary mitochondrial diseases, ALS, and other neurodegenerative disorders. We utilize in vitro and in vivo systems, including patient-derived cells and mouse models of primary mitochondrial diseases, ischemic injury, and neurodegeneration. Major lines of research are on bioenergetic alterations and other aspects of mitochondrial pathobiology, including mitochondrial dynamics, mitochondrial protein quality control, mitophagy, calcium homeostasis, and oxidative stress. Tools to assess mitochondrial functions include mouse and cells models, such as primary patient-derived cells and iPSC-derived cells. However, we now realize that mitochondrial dysfunction is not simply a bioenergetic problem. The implications of mitochondrial dysfunction are much broader, strongly implicating many aspects of metabolism at the cellular level, but also at the tissue and organism levels. Therefore, we are particularly interested in the complex set of metabolic responses that underlie the mitochondrial integrated stress response and its consequences.
List of Published Work:
The NCBI “my bibliography” list of articles can be found at the following link: http://www.ncbi.nlm.nih.gov/sites/myncbi/giovanni.manfredi.1/bibliograph...