EdinaTorgyekesMD
Medical Genetics • New York, NYClinical Genetics
Clinical and Research Geneticist at the International Registry of Fetal Anomalies (IRONFAN)
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Office
3960 Broadway
Audubon Business and Technology Center, Columbia University Irving Medical Center
New York, NY 10032Phone+1 917-628-4988
Summary
- I am board certified in Internal Medicine and Medical Genetics, completed my clinical training at Rochester General Hospital in Rochester, NY and at the New York Presbyterian Hospital- Columbia Medical Center, then worked in cardiology genetic clinical research and mitochondrial genetic basic research. For the past 10 years I'm involved in database development/maintenance and algorithm development at the International Registry of Fetal Anomalies with the goal to diagnose fetal genetic disorders based on early pregnancy ultrasound.
Education & Training
New York Presbyterian Hospital (Columbia Campus)Residency, Medical Genetics and Genomics, 2004 - 2007
Rochester General HospitalResidency, Internal Medicine, 2001 - 2004
Semmelweis UniversityClass of 1997
Certifications & Licensure
CT State Medical License 2007 - 2025- American Board of Internal Medicine Internal Medicine
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Fulbright Scholarship 1999-2000
Publications & Presentations
PubMed
- 130 citationsMitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibitionRobert W. Gilkerson, Rosa L.A. De Vries, Paul Lebot, Jakob D. Wikstrom, Edina Torgyekes
Human Molecular Genetics. 2012-03-01 - 10 citationsThe proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the...Edina Torgyekes, Alan L. Shanske, Kwame Anyane-Yeboa, Odelia Nahum, Sara Pirzadeh
American Journal of Medical Genetics. Part A. 2011-08-01
Committees
- Co-chair, American College of Medical Genetics, Quality Assurance Special Interest Group 2016 - Present
Research History
- Research Scientist, Department of Neurology, Columbia University College of Physicians and SurgeonsConducted preclinical research trials for evaluating ketosis as well as novel compounds in the treatment of mitochondrial disorders.2006 - 2010
Professional Memberships
- Member
- Member
- American College of Medical Genetics and GenomicsFellow
- American Society of Human GeneticsMember
- European Society of Human GeneticsMember
- American Association for the Advancement of ScienceMember
Other Languages
- Hungarian, Russian, German
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