Research InterestsDr. Moreno De Luca’s research focuses on the discovery and characterization of genomic variation in individuals with neurodevelopmental disorders, including intellectual disability, autism, schizophrenia, epilepsy, and cerebral palsy. Early in his career he lead a collaborative research team to study the genomics of cerebral palsy, discovered one of the first genes responsible for this disorder (AP4E1), and characterized the clinical and neuroimaging profile of a novel neurogenetic disorder, the AP-4 deficiency syndrome (OMIM: 613744). Such endeavor was followed by an international collaboration to conduct the first systematic study exploring the role of copy number variation in cerebral palsy.
Recent efforts with colleagues at Geisinger’s Autism & Developmental Medicine Institute include the development of a clinical and research model called Developmental Brain Dysfunction (DBD), which approaches apparently different developmental, neurological, and neuropsychiatric disorders as a neurodevelopmental continuum. A “genotype-first” approach to DBD will elucidate the genomic underpinnings, shared pathophysiologic processes and molecular pathways, and potential therapeutic interventions for individuals with neurodevelopmental disorders.
As an Investigator at Geisinger’s Autism & Developmental Medicine and Genomic Medicine Institutes and Diagnostic Radiology resident physician, Dr. Moreno De Luca is currently involved in integrating his ongoing research in neurogenetics with his interest in structural and functional neuroimaging to further study DBD with imaging genomics.
- Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro J, Faucett WA, Martin CL, Ledbetter DH . (2015, Feb.). The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with 16p11.2 deletions. JAMA Psychiatry , 72(2): 119-126. Full Text
- Moreno-De-Luca D, Moreno-De-Luca A, Cubells J, Sanders SJ. (2014, Sep). Cross-disorder comparison of four neuropsychiatric CNV loci. Current Genetic Medicine Reports , 2(3): 151-161. Full Text
- Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH. (2013, April). Developmental brain dysfunction (DBD): revival and expansion of old concepts based on new genetic evidence. The Lancet Neurology, 12(4), 406-14. Full Text
- Moreno-De-Luca A, Ledbetter DH, Martin CL. (2012, March). Genetic insights into the causes and classification of the cerebral palsies. The Lancet Neurology , 11(3), 283-292. Full Text
- Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt K, Fernhoff PM, Ledbetter DH, Martin CL. (2011, February). Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. Journal of Medical Genetics , 48(2), 141-144. Full Text
EducationMD, Cum Laude, Universidad Industrial de Santander, Colombia, 2008
Postdoctoral Research Fellowship in Neurogenetics, Emory University School of Medicine, 2009-2011
Internship, Department of Pediatrics, Geisinger Health System, 2012-2013
Residency, Department of Radiology, Geisinger Health System, 2013-2017