photo by Patricia Martin-Maestro Rojas


The Manfredi lab investigates the mechanisms underlying alterations of mitochondrial dynamics, structure, and function in the context of neuromuscular disease. Much of our research centers around the involvement of mitochondria in amyotrophic lateral sclerosis (ALS), a devastating fatal neurodegenerative disease. Our current research projects include:


Mitochondria quality control in SOD1-ALS


  • Topic of study: mitochondrial defects of mitochondrial turnover and repair in familial ALS using cultured motor neurons and mouse models of the disease.
  • Funding: NIH/NINDS 1R01NS062055 (PI, Manfredi) 
  • Timeline: March 2015 – December 2019


Estrogen receptor beta and mitochondrial permeability transition in Ca2+-induced neuronal injury

  • Topic of study: functions of the estrogen receptor beta in neural tissue mitochondria, mechanism by which the receptor and its agonists modulate mitochondrial permeability transition induced by calcium overload and how this modulation affects neuronal viability under ischemic conditions.
  • Funding: NIH/NINDS 1R01 NS095692 (MPI, Iadecola, Manfredi contact PI) 
  • Timeline: July 2016 – June 2021        


Mitochondrial inter membrane space-IMS unfolded protein response in familial ALS


  • Topic of study: novel pathogenic pathway in a mouse model of familial ALS, which involves a recently discovered unfolded protein responses starting in the mitochondrial inter membrane space.
  • Funding: NIH/NINDS 1R01NS084486-01 (MPI, Germain, Manfredi) 
  • Timeline: April 2014 – March 2019    


Metabolic profiling of sporadic ALS patients: from fibroblasts to neurons and back


  • Topic of study: metabolomics and bioenergetics biomarkers in fibroblasts and in iPSC-derived motor neurons from ALS patients.
  • Funding: NIH/NINDS 1R01NS093872-01 (MPI, Gross, Studer, Manfredi contact PI)
  • Timeline: July 2015 – March 2020


Role of Prohibitin in Ischemic Brain Injury


  • Topic of study: neuroprotective role of the mitochondrial protein prohibitin in brain ischemia.
  • Funding: NIH/NINDS 1R01NS067078 Investigator (PI, Zhou)
  • Timeline: April 2015 – March 2020    


Novel knock in mouse model to study CHCHD10 mitochondrial diseases


  • Topic of study: development of mouse models with mutant mitochondrial CHCHD10 responsible for ALS/FTD to understand the disease mechanisms.
  • Funding: Muscular Dystrophy Association MDA602894 (PI, Manfredi)
  • Timeline: February 2019 – January 2022       

Weill Cornell Medicine Manfredi Lab 407 East 61st Street, 5th Floor New York, NY 10065 Phone: (646) 962-8271