Valentina Emmanuele, MD, PhD
Neuromuscular Medicine, Pediatric Neurology
Accepting New Patients
Virtual Visits/Telehealth
On the web
Overview
Dr. Emmanuele is a pediatric neurology specialist with expertise in neuromuscular disorders. Her areas of interest include mitochondrial disorders and metabolic myopathies. She initially trained at the “Istituto Giannina Gaslini” in Genoa, Italy, a tertiary pediatric hospital where she cared for children with neuromuscular disorders. In 2009, Dr. Emmanuele moved to New York City to join the H. Houston Merritt Center for Neuromuscular and Mitochondrial Disorders at Columbia University as a research scientist. She then completed a clinical fellowship in mitochondrial disorders through the North American Mitochondrial Disease Consortium (NAMDC). In 2024, she completed her residency in pediatric neurology at Columbia University Irving Medical Center.
Areas of Expertise / Conditions Treated
- Duchenne Muscular Dystrophy (DMD)
- Mitochondrial Diseases
- Muscular Dystrophy
- Myasthenia Gravis
- Myopathy
- Neurometabolic Disorder
- Neuromuscular Disorder
- Neuromuscular junction disorders
- Spinal Muscular Atrophy
Academic Appointments
- Assistant Professor
Gender
- Female
Schedule an Appointment
Virtual Visits/Telehealth
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Location(s)
Insurance Accepted
Aetna
- Aetna Signature Administrators
- EPO
- NYP Employee Plan
- NY Signature
- POS
- Student Health
Affinity Health Plan
- Medicaid Managed Care
Amida Care
- Special Needs
Cigna
- EPO
- Great West (National)
- HMO
- Medicare Managed Care
- POS
- PPO
Emblem/GHI
- Medicare Managed Care
- PPO
Emblem/HIP
- ConnectiCare
- EPO
- Essential Plan
- HMO
- Medicare Managed Care
- POS
- PPO
- Select Care (Exchange)
- Vytra
Empire Blue Cross Blue Shield HealthPlus
- Child/Family Health Plus
- Essential Plan
- Medicaid Managed Care
Fidelis Care
- Medicaid Managed Care
- Medicare Managed Care
Healthfirst
- Child/Family Health Plus
- Leaf (Exchange)
- Medicaid Managed Care
- Medicare Managed Care
Local 1199
- Local 1199
MagnaCare (National)
- MagnaCare
Medicare
- Railroad
- Traditional Medicare
Multiplan
- Multiplan
MVP Health Care
- Child/Family Health Plus
- Essential Plan
- Medicaid Managed Care
UnitedHealthcare
- Compass (Exchange)
- Empire Plan
- HMO
- Medicaid (Community Plan)
- Oxford Freedom
- Oxford HMO
- Oxford Liberty
- POS
- PPO
VNSNY CHOICE
- SelectHealth
WellCare
- Medicare Managed Care
- New Jersey Services (Medicaid Managed Care)
World Trade Center Health Plan
- World Trade Center Health Plan
*Please contact the provider’s office directly to verify that your particular insurance is accepted.
Credentials & Experience
Education & Training
- MD, 2005 Universita’ Campus Bio-Medico di Roma, Rome, Italy
- PhD, 2014 Genetics, University of Genoa, Genoa, Italy
- Internship: 2020 Jacobi Medical Center
- Residency: 2024 New-York Presbyterian Hospital, Columbia University Irving Medical Center
- Fellowship: 2017 North American Mitochondrial Disease Consortium (NAMDC)
Honors & Awards
- 2016 L’Oréal-UNESCO For Women in Science Italian Fellowship
- 2021 North American Mitochondrial Disease Consortium (NAMDC) Gateway to Mitochondrial Medicine Award
- 2023 Columbia University Irving Medical Center, Niels L. Low Award 2023
Research
Dr. Emmanuele research focuses on neuromuscular and rare genetic metabolic disorders, particularly mitochondrial diseases. In 2009, she joined the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases at Columbia University, where she worked on the characterization of unique mouse models of neuromuscular and mitochondrial disorders (fhl1, pdss2, tk2, gbe1) led by Drs. Michio Hirano, Salvatore DiMauro, Kurenai Tanji, and Catarina Quinzii. Her PhD thesis focused on mitochondrial DNA (mtDNA) mutations, particularly the m.3243A>G pathogenic variant, which is the most frequent cause of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome. Her work included a collaborative project with the New York Stem Cell Foundation (NYSCF) that significantly impacts the field of mitochondrial disease: the development of a mitochondrial replacement technique in human oocytes to prevent maternal transmission of pathogenic mtDNA mutations. Her current research activities build on her prior research career and involve in-depth analysis of the natural history data of subjects with the mtDNA m.3243A>G pathogenic variant, as well as the characterization of mitochondrial DNA depletion/deletions syndrome (MDDS) caused by pathogenic variants in the POLG gene, which encodes the mitochondrial DNA polymerase gamma. Dr. Emmanuele is also involved in clinical interventional trials for patients with neuromuscular and mitochondrial disorders.
For a complete list of publications, please visit PubMed.gov