Elizabeth K. Schorry, MD
- Member, Division of Human Genetics
- Professor, UC Department of Pediatrics
- Board Certified
About
Biography
I have been intrigued by genetics since junior high school. I love working in a field where I can combine my interest in science with the ability to provide improved medical care to patients.
During my more than 30-year career in genetics, I’ve seen amazing changes. As we better understand how genes cause certain disorders, we can develop specific treatments and improve the health and future for many children.
As a clinical geneticist, I specialize in caring for children with many different genetic disorders. My main area of subspecialty is neurofibromatosis. I also have a special interest in Rubinstein-Taybi syndrome, tuberous sclerosis and many other genetic disorders. I strongly feel that each patient should be treated as an individual with his or her own unique needs.
I am proud to work for one of the largest neurofibromatosis clinics in the country. Our program is part of the Children's Tumor Foundation Clinic Network and the Neurofibromatosis Clinical Trials Consortium. I serve on the Children's Tumor Foundation Clinical Care Advisory Board, a position I’ve held for the past 10 years.
My research focuses on clinical trials for patients with neurofibromatosis. We want to find better treatments for bone disease in neurofibromatosis, benign neurofibromatosis tumors and associated learning difficulties.
When I’m not at work, I enjoy travel, gardening and spending time with my grandchildren.
BS: Biology, University of Cincinnati, Cincinnati, OH, 1977.
MD: University of Michigan, Ann Arbor, MI, 1982.
Residency: Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1982-1985.
Fellowship: Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1985-1988.
Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.
Interests
Genetic disorders; congenital anomalies; neurofibromatosis; tuberous sclerosis; bone disease in neurofibromatosis; Ehlers-Danlos syndrome
Services and Specialties
Interests
History of bone complications of neurofibromatosis type 1 (NF1); learning and behavioral problems in NF1; and drug trials for plexiform neurofibromas and other NF-related tumors.
Research Areas
Publications
Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments. Journal of Neuro-Oncology. 2025; 174:65-76.
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2024; 196:e32095.
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report. Neurology: Genetics. 2024; 10:e200177.
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials. British Journal of Dermatology. 2024; 190:216-225.
Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy. Journal of Pediatric Orthopaedics. 2023; 43:e531-e537.
Motor Function and Physiology in Youth With Neurofibromatosis Type 1. Pediatric Neurology. 2023; 143:34-43.
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus. Neuro-Oncology. 2022; 24:1845-1856.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genetics in Medicine. 2022; 24:1967-1977.
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Journal of Genetic Counseling. 2022; 31:153-163.
Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials. Neurology. 2021; 97:S50-S63.
3333 Burnet Avenue, Cincinnati, Ohio 45229-3026
© 1999-2025 Cincinnati Children's Hospital Medical Center. All rights reserved.
Patient Ratings and Comments
All patient satisfaction ratings and comments are submitted by actual patients and verified by a leading independent experience management company, Qualtrics. Patient identities are withheld to ensure confidentiality and privacy. Only those providers whose satisfaction surveys are administered through Cincinnati Children’s Hospital Medical Center are displayed. Click here to learn more about our survey