Search for a doctor

Karthik Muthusamy, M.B.B.S.

  1. Medical Geneticist


  1. Jacksonville, Florida



Karthik Muthusamy, M.B.B.S., is a senior associate consultant in the department of Clinical Genomics at Mayo Clinic, Jacksonville, Florida. His main interests and expertise include Neurogenetics specifically leukodystrophies, genetic epilepsies, neuromuscular disorders, neurometabolic disorders, mitochondrial disorders, and neurodegenerative disorders including dementia and movements disorders. His other areas of interest are Neurofibromatosis 1, congenital disorders of glycosylation, rare and undiagnosed mendelian disorders.

Dr. Muthusamy completed his medical school at Stanley Medical College in India followed by Pediatrics residency at Thanjavur Medical College, and Neurology residency at Christian Medical College, Vellore, India. He further completed Clinical Genomics residency at Mayo Clinic, Rochester.

He has a good clinical research background and has been a reviewer of several national and international medical journals. His current research interests include rare and undiagnosed genetic disorders, Neurofibromatosis 1, and congenital disorders of glycosylation.

Conditions treated: Neurodegenerative disorders, leukodystrophies, genetic epilepsies, neuromuscular disorders, neurometabolic disorders, neurofibromatosis 1.

  • Neurogenetics
  • Neurodegenerative disorders
  • Neurometabolic conditions
  • Leukodystrophies
  • Genetic strokes
  • Genetic epilepsies
  • Congenital disorders of glycosylation
  1. 2021
    ResidentMedical Genetics, Programs in Rochester, Mayo School of Graduate Medical Education, Mayo Clinic College of Medicine
  2. 2012
    DM - D.M (Neurology)Christian Medical College
  3. 2008
    MD - M.D PediatricsThanjavur Medical College
  4. 2004
    MBBSGovernment Stanley Medical College


  1. 2021
    Clinical GeneticsAmerican Board of Medical Genetics and Genomics

Awards and honors

  1. 2022
    Top-rated abstract at the Annual Clinical Genetics Meeting, "Neurological Manifestations in PMM2 related congenital disorders of glycosylation (CDG): Insights into clinico-radiological characteristics and recommendations for follow-up"American College of Medical Genetics
  2. 2014
    Recipient of International travel grant fellowship award 2014 to attend ICNC in BrazilIndian Academy of Neurology
  3. 2012
    Best outgoing neurology resident and recipient of Dr. K.V. Mathai gold medal for best outgoing resident in Neurology of the year 2012Christian medical College
  4. 2012
    University gold medal for securing highest mark in super specialty degree exam in the year 2012 Tamil Nadu Dr. M.G.R. Medical University
  5. 2008
    Best outgoing student in MD Pediatrics residencyTamil Nadu Dr. M.G.R. Medical University

Professional memberships

  1. 2022 - present
    MemberAmerican Academy of Neurology
  2. 2022 - present
    MemberAmerican College of Medical Genetics
  3. 2021 - present
    MemberIndian Academy of Pediatrics
  4. 2021 - present
    MemberNeurology chapter of Indian Academy of Pediatrics
  5. 2021 - present
    MemberAssociation of Child Neurology of India
  6. 2021 - present
    MemberIndian Academy of Neurology
  7. 2021 - present
    MemberInternational Child Neurology Association
  8. 2021 - present
    MemberIndian Epilepsy Association
  9. 2021 - present
    MemberIndian Epilepsy Society
  10. 2021 - present
    Member Society for Inborn Metabolic Disorders