John G. Pappas, MD

  • Specialty: Clinical Genetics
  • Languages: English, Greek
  • Phone: 646-754-2222

About Me

My curiosity about science was heightened by a high school biology class, during which I wondered at the complex phenomena such simple elements—carbon, hydrogen, oxygen, and nitrogen—can create. Then the genetic code was discovered, and it seemed we suddenly had so many answers at our fingertips.

When I studied genetics in closer detail, however, I found more questions than answers. My interest in incurable diseases, especially those brought about by genes associated with unfavorable traits, grew during the years I studied in my home country, Greece, at the University of Athens. There, I discovered my passion: medical genetics. There was no specific program in Greece where I could further my training, so I moved to the United States and pursued pediatrics and genetics.

Helping families struggling with genetic conditions has become my priority. In my practice, I evaluate prenatal genetic abnormalities and offer prenatal counseling. I also evaluate children and adults with possible genetic disorders, including predisposition to cancer. I’m specifically interested in genomic microdeletions and microduplications—small mutations that are associated with different conditions, such as autism—and I hope to study these mutations in future research projects.

Patients and parents of patients often don’t realize that nature changes and distributes genes randomly. I try to eliminate the guilt that can accompany a genetic disease diagnosis by explaining that new mutations occur naturally, and that nobody has a choice in deciding which part of their DNA is transmitted to their kids.

It is fulfilling to be able to direct families, parents, and children with genetic conditions to the appropriate specialties. I love doing what I can to make their lives easier. I can empower families with the explanation that a DNA mutation is totally natural, untouchable by humans. Most of all, being a part of family discussions and decisions during personal, and sometimes very painful, times is a privilege and responsibility that extends beyond professional duties.

In addition to educating patients, I have a responsibility to educate students. I am actively involved in teaching first- and third-year medical students, as well as residents and fellows, about the main features of genetic syndromes, prompt communication of a diagnosis, and familiarity with advances in the field of medical genetics.


Conditions and Treatments

growth disorders, kabuki syndrome, multiple pterygium syndrome, connective tissue disease, craniosynostosis, epilepsy, movement disorders, multiple endocrine neoplasia, muscular dystrophy, neurofibromatosis, normal pressure hydrocephalus (nph), autism, intellectual disability, achondroplasia, arthrogryposis, birthmark, cleft palate, congenital heart defect, congenital hydrocephalus, cystic fibrosis, ear malformation, genetic skin diseases, inborn scoliosis, limb abnormalities, lysosomal storage disease, marfan syndrome, pseudoachondroplasia, short stature, coarctation, hand deformities, kidney malformation, vascular malformation
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Credentials

Positions
  • Associate Professor, Department of Pediatrics
Board Certifications
  • American Board of Medical Genetics - Clinical Genetics, 1996
Education and Training
  • Fellowship, Beth Israel Medical Center, Clinical Genetics, 1995
  • Residency, Beth Israel Medical Center, Pediatrics, 1991
  • MD from Athens University, 1985
Departments

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NYU Pediatric Genetics Associates

145 East 32nd Street, 14th Floor
New York, NY 10016

Center for Children-Genetics Clinic

301 East 17th Street
New York, NY 10003

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Publications

  • Expansion of phenotype and genotypic data in CRB2-related syndrome

    Lamont, Ryan E; Tan, Wen-Hann; Innes, A Micheil; Parboosingh, Jillian S; Schneidman-Duhovny, Dina; Rajkovic, Aleksandar; Pappas, John; Altschwager, Pablo; DeWard, Stephanie; Fulton, Anne; Gray, Kathryn J; Krall, Max; Mehta, Lakshmi; Rodan, Lance H; Saller, Devereux N Jr; Steele, Deanna; Stein, Deborah; Lamont, Ryan E; Tan, Wen-Hann; Innes, A Micheil; Parboosingh, Jillian S; Schneidman-Duhovny, Dina; Rajkovic, Aleksandar; Pappas, John; Altschwager, Pablo; DeWard, Stephanie; Fulton, Anne; Gray, Kathryn J; Krall, Max; Mehta, Lakshmi; Rodan, Lance H; Saller, Devereux N Jr; Steele, Deanna; Stein, Deborah; Yatsenko, Svetlana A; Bernier, Francois P; Slavotinek, Anne M
    European journal of human genetics. 2016 Mar 23. 24 (10): 1436-1444
    Show More Authors

  • Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene

    Raisingani, Manish; Contreras, Maria F; Prasad, Kris; Pappas, John G; Kluge, Michelle L; Shah, Bina; David, Raphael Raisingani, Manish; Contreras, Maria F; Prasad, Kris; Pappas, John G; Kluge, Michelle L; Shah, Bina; David, Raphael
    Journal of pediatric endocrinology & metabolism. 2016 Jul. 29 (7): 867-871

  • Potocki-Lupski syndrome in conjunction with bilateral clubfoot

    Dhanaraj, Dinesh; Chu, Alice; Pappas, John G; Moran, Ellen; Lehman, Wallace B Dhanaraj, Dinesh; Chu, Alice; Pappas, John G; Moran, Ellen; Lehman, Wallace B
    Journal of pediatric orthopaedics. Pt. B. 2015 Jul . 24 (4): 373-376

Read All Publications (33)