Genetics

Mitochondrial Medicine Program

The Mitochondrial Medicine Program at the Icahn School of Medicine at Mount Sinai serves to deliver multidisciplinary clinical care, state-of-the-art diagnostics, and novel therapies to patients of all ages with suspected or diagnosed mitochondrial disease.

Our program is led by co-Directors Pankaj Prasun, MD and Bryn Webb, MD, FACMG, both experts in mitochondrial disorders.  We combine skilled medical care with cutting-edge research to provide comprehensive disease evaluation, counseling, and management for each and every patient.

What are Mitochondria?

Mitochondria are the “powerhouse” of the cells, and they generate the majority of the energy we need to live and grow. Mitochondrial diseases are often inherited and arise when the mitochondria are unable to completely burn food and oxygen to generate energy, which is needed for normal cell function. Depending on which cells of the body have low-functioning mitochondria, various health issues and symptoms may develop, including but not limited to:

  • Developmental Delay/ Intellectual disability
  • Muscle Weakness
  • Seizures
  • Stroke
  • Vision or Hearing Loss
  • Hormone Imbalances
  • Problems with heart, liver, or kidney function

Much of what is known about mitochondrial disease has only been discovered in the last two decades. Because of this, knowledge about these disorders is evolving, as are the available treatments and testing.

Our team of doctors, genetic counselors, social workers, and metabolic dieticians, work closely together toward the common goal of improving quality of life for  our patients. We also offer the opportunity to participate in clinical trials for mitochondrial disease.