Skip Navigation
Phone: 800-275-6401

Faculty Page

David H Ledbetter, PhD

Executive Vice President, Chief Scientific Officer


Autism & Developmental Medicine Institute
120 Hamm Drive
Lewisburg, PA 17837
Phone: 570-214-7786
Fax: 570-271-7498

Genomic Medicine Institute
100 North Academy Avenue
Danville, PA 17822
Phone: 570-214-7786
Fax: 570-271-7498


PhD, University of Texas, Austin, 1981


Genetics, Genomics, Neurosciences, Pediatrics, Autism


Human genetics and genomics, Neurogenetics of autism and other developmental disabilities, Copy number variation (CNV) in human disease, Genomic technology translation, Gene patents and genetic diagnostics technology and policy


Dr. Ledbetter is formally trained in human and medical genetics, with specialty training in clinical cytogenetics and genetic testing. After discovery of the genetic cause of Prader-Willi syndrome (deletion 15q11-q13) and Miller-Dieker syndrome (deletion 17p13) early in his career, he has focused his efforts on the development and application of new genomic technologies to discover the etiology of neurodevelopmental disorders such as autism, intellectual disability and schizophrenia. Recent efforts involve the development of an international consortium for data sharing by clinical cytogenetics laboratories using whole genome microarrays (the International Standards for Cytogenomic Arrays or ISCA Consortium), which has now expanded to include both structural and seqeucne variation under a major NIH funded project named “Clinical Genome Resource Project or ClinGen” (  This is a model for the collection of genomic and clinical information as a by-product of routine patient care into central, publicly available databases to accelerate knowledge generation and improved patient outcomes. The next major challenge will be the integration of the vast amount of genomic data generated through routine patient care into the electronic health record in a clinically meaningful way.


Moreno-De-Luca, A., Evans, D.W., Boomer, K.B., Hanson, E., Bernier, R., Goin-Kochel, R.P., Myers, S. M., Challman, T.D., Moreno-De-Luca, D., Slane, M. M., Hare, A.E., Chung, W.K., Spiro, J.E., Faucett, W.A., Martin, C.L. and Ledbetter, D.H.. (2014). The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions. JAMA Psychiatry , Epub ahead of print.   

Moreno-De-Luca, D., Sanders, S.J., Willsey, A.J., Mulle, J.G., Lowe, J.K., Geschwind, D.H., State, M.W., Martin, C.L. and Ledbetter, D.H. (2013). Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts. Molecular Psychiatry , 18, 1090-1095, .   

Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH. (2013). Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. The Lancet Neurology , 12(4) 406-414.   

Moreno-De-Luca, A., Ledbetter, D.H. and Martin, C.L. (2012). Genetic insights into the causes and classification of cerebral palsies. The Lancet Neurology , 11 (3),283-292.   

Wapner, R.J., Martin, C.L., Levy, B., Ballif, B.C., Eng, C.M., Zachary, J.M., Savage, M., Platt, L.D., Saltzman, D., Grobman, W.A., Klugman, S., Scholl, T., Simpson, J.L., McCall, K., Aggarwal, V.S., Bunke, B., Nahum, O., Patel, A., Lamb, A.N., Thom, E.A., Beaudet, A.L., Ledbetter, D.H., Shaffer, L.G. and Jackson, L.. (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine , 367(23), 2175-2184.   

Additional Links