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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

David H Ledbetter, PhD, FACMG

Research Interests

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 sequence 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.
Funded Grants:   
  • RO1 MH074090 (NIH/NIMH) – Role: MPI - Gene Dosage Imbalance in Neurodevelopmental Disorders       
  • U41HG006834 (NIH/NHGRI) – Role: MPI - A Unified Clinical Genomics Database

Selected Publications

  • Moreno-De-Luca, A., Myers, S.M., Challman, T.D., Moreno-De-Luca, D., Evans, D.W. and Ledbetter, D.H.:  Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.  The Lancet Neurology 12:406-414, April 2013.  PMID: 23518333
  • 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.: The role of parental cognitive, behavioral and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry 72:119-126, 2014.  PMID: 25493922
  • Gonzalez-Mantilla, A.J., Moreno-De-Luca, A., Ledbetter, D.H. and Martin, C.L.: A cross-disorder method to identify novel candidate genes for developmental brain disorders.  JAMA Psychiatry, 73:275-283, 2016.  PMID: 26817790
  • Dewey, F.E., et al: Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study. Science, 354:1549, 2016. PMID: 28008009
  • Abul-Husn, N.S. et al: Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science, 354:1550, 2016.  PMID: 28008010


PhD, University of Texas, Austin, 1981