Researcher Spotlight | Diagnostic Radiology | School of Medicine

Research Focus:

Leverage the combined power of neuroimaging and genomics (Precision Neuroimaging) to explore the molecular underpinnings and characterize the neuroradiological profiles of individuals with neurodevelopmental disorders, including cerebral palsy, intellectual disability, and epilepsy, as well as pediatric neurosurgical disorders such as congenital hydrocephalus, Chiari malformation, cerebrovascular anomalies, and other structural brain malformations. Our overarching goal is to advance our understanding of these conditions, and ultimately, improve health outcomes.

Briefly explain the impact of this work:

By discovering and characterizing genomic variation in individuals and families with developmental brain disorders and correlating the underlying gene mutations with their neuroimaging features, our multidisciplinary team strives to translate advances in basic science into better strategies for the diagnosis, management, and treatment of these disorders.

Training

2021 - 2022	Executive Master of Business Administration (EMBA) Graduated with Honors Quantic School of Business and Technology
2017 - 2018	Neuroradiology Fellowship Department of Radiology Neuroradiology Division Hospital of the University of Pennsylvania Philadelphia, Pennsylvania, USA
2013 - 2017	Diagnostic Radiology Residency Holman Research Pathway Department of Radiology Geisinger Danville, Pennsylvania, USA
2012 - 2013	Internship Department of Pediatrics Janet Weis Children’s Hospital Geisinger Danville, Pennsylvania, USA
2009 - 2011	Neurogenetics Postdoctoral Research Fellowship Department of Human Genetics Emory University School of Medicine Atlanta, Georgia, USA
2003 - 2008	Doctor of Medicine – Cum Laude Universidad Industrial de Santander Bucaramanga, Colombia

Grant funding

Characterizing the spectrum of genomic and phenotypic variation in cerebral palsy.

Award number: 1R01HD104938-01A1.

PI: Andres Moreno De Luca, MD (2022 – 2023).

Source of support: National Institute of Child Health and Human Development.

Total award amount: $3,365,701 USD.

Molecular and cellular characterization of congenital hydrocephalus

Award number: 1R01NS131610-01A1

PI: Sheng Chih Jin, PhD. Co-I: Andres Moreno De Luca, MD (2024 – 2029).

Source of support: National Institute of Neurological Disorders and Stroke

Total award amount: $3,157,725 USD

Precision neuroimaging in individuals with variants in the CSNK2A1, HIVEP2, MED13L, and SETBP1 genes.

Award number:1001139

PI: Andres Moreno De Luca, MD, MBA, DABR (2022 – 2023).

Source of support: Simons Foundation/Simons Searchlight

Total award amount: $12,000 USD

Selected Manuscripts

Bibliography: https://pubmed.ncbi.nlm.nih.gov/?term=moreno+de+luca+a&sort=date

Wang Y, Xu Y, Zhou C, Cheng Y, Qiao N, Shang Q, Xia L, Song J, Gao C, Qiao Y, Zhang X, Li M, Ma C, Fan Y, Peng X, Wu S, Lv N, Li B, Sun Y, Zhang B, Li T, Li H, Zhang J, Su Y, Li Q, Yuan J, Liu L, Moreno-De-Luca A, MacLennan AH, Gecz J, Zhu D, Wang X, Zhu C, Xing Q. Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy. Nature Medicine. 2024; 30(5): 1395-1405. PMID: 38693247

Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT. Molecular diagnostic yield of exome sequencing in patients with congenital hydrocephalus: A systematic review and meta-analysis. JAMA Network Open. 2023; 6(11): e2343384. PMID: 37991765

Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Hao LT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Moyer QJ, Dennis E, Kiziltug E, Kundishora AJ, DeSpenza T, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications. 2023; 14(1): 7452. PMID: 37978175

Mekbib KY, Muñoz W, Allington G, McGee S, Mehta N, Shofi J, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu I, Moreno-De-Luca A, DeSpenza Jr T, Zhao S, Marlier A, Jin SC, Alper S, Butler WE, Kahle KT. Human genetics and molecular genomics of Chiari malformation type 1. Trends in Molecular Medicine. 2023; 29(12): 1059-1075. PMID: 37802664

Kundishora AJ, Allington G, McGee S, Mekbib KY, Gainullin V, Timberlake AT, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy PQ, Elsamadicy AA, Dong W, Zhao S, Wang YC, Qureshi HM, Diluna ML, Mane S, Tikhonova IR, Fu PY, Castaldi C, López-Giráldez F, Knight JR, Furey CG, Carter BS, Haider S, Moreno-De Luca A, Alper SL, Gunel M, Millan F, Lifton RP, Torene RI, Jin SC, Kahle KT. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature Medicine. 2023; 29(3): 667-678. PMID: 36879130

Duy PQ, Weise SC, Marini C, Li X, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernandez LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim S, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature Neuroscience. 2022; 25(4): 458-473. PMID: 35379995

Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL. Molecular diagnostic yield of exome sequencing in patients with cerebral palsy. JAMA. 2021; 325(5): 567-575. PMID: 33528536

Jin SC*, Dong W*, Kundishora AJ*, Panchagnula S*, Moreno-De-Luca A*, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Perez Peña H, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT (*Equal contribution). Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine. 2020; 26(11): 1754-1765. PMID: 33077954

Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nature Medicine. 2019; 25(10): 1477-1487. PMID: 31548702

Gonzalez-Mantilla AJ*, Moreno-De-Luca A*, Ledbetter DH, Martin CL (*Equal contribution). A cross-disorder method to identify novel candidate genes for developmental brain disorders. JAMA Psychiatry. 2016; 73(3): 275-283. PMID: 26817790

Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. The Lancet Neurology. 2013; 12(4): 406-414. PMID: 23518333

Moreno-De-Luca A, Ledbetter DH, Martin CL. Genetic insights into the causes and classification of the cerebral palsies. The Lancet Neurology. 2012; 11(3): 283-292. PMID: 22261432