In my path to becoming a physician-scientist, I have been deeply interested on the impact of genetic variation on brain disorders, and how to use discoveries in the field to enhance patient care. I have pursued clinical training in child, adolescent, and adult psychiatry, and research training in genetics and neuroscience, which has given me a unique perspective to blend insights from these diverse but complementary fields. My research has focused onthe genetic underpinnings of autism and other neuropsychiatric conditions, specifically on the role of rare genetic variants as risk factors for developmental brain disorders. Together with my collaborators, we identified the 17q12 deletion as a risk factor for autism and schizophrenia by pulling together genetic data from over 70,000 people worldwide, and we have expanded our work on this and other rare genetic variants within the context of the Simons Foundation and the Psychiatric Genetics Consortium. This work has propelled my drive to focus the next stage of my career in developing the scientific support and infrastructure required to bring research discoveries in genetics to clinical practice and continue forging the path towards precision medicine in psychiatry.
|McCormick CEB, Kavanaugh BC, Sipsock D, Righi G, Oberman LM, Moreno De Luca D, Gamsiz Uzun ED, Best CR, Jerskey BA, Quinn JG, Jewel SB, Wu PC, McLean RL, Levine TP, Tokadjian H, Perkins KA, Clarke EB, Dunn B, Gerber AH, Tenenbaum EJ, Anders TF, Rhode Island Consortium for Autism Research and Treatment (RI-CART)., Sheinkopf SJ, Morrow EM. "Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI-CART Study." Autism Research, vol. 13, no. 3, 2020, pp. 474-488.|
|Moreno-De-Luca, Daniel, Kavanaugh, Brian C., Best, Carrie R., Sheinkopf, Stephen J., Phornphutkul, Chanika, Morrow, Eric M. "Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample." JAMA Psychiatry, 2020.|
|Besterman AD, Moreno-De-Luca D, Nurnberger JI Jr. "21st-Century Genetics in Psychiatric Residency Training: How Do We Get There?." JAMA Psychiatry, 2019.|
|Goldstein J, Ross DA, Moreno De Luca D. "Found in Translation: Autism Genetics and the Quest for Its Rosetta Stone." Biological Psychiatry, vol. 85, no. 7, 2019, pp. e29-e30.|
|Montplaisir R, Lee E, Moreno-De-Luca D, Myers WC. "Mosaic trisomy 20 and mitigation in capital crimes sentencing: A review and case report." Behavioral Sciences & the Law, 2019.|
|Brainstorm Consortium., Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Mühleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QS, Nauck M, Schoevers RA, Beekman AT, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosário M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Lee Chee Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM, Schott JM, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg HJ, Murray R. "Analysis of shared heritability in common disorders of the brain." Science, vol. 360, no. 6395, 2018.|
|Moreno-De-Luca D, Ross ME, Ross DA. "Leveraging the Power of Genetics to Bring Precision Medicine to Psychiatry: Too Little of a Good Thing?." Biological Psychiatry, vol. 83, no. 8, 2018, pp. e45-e46.|
|Nurnberger JI Jr, Austin J, Berrettini WH, Besterman AD, DeLisi LE, Grice DE, Kennedy JL, Moreno-De-Luca D, Potash JB, Ross DA, Schulze TG, Zai G. "What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics." J. Clin. Psychiatry, vol. 80, no. 1, 2018.|
|Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI Jr, Hallmayer JF. "Autism genetics: opportunities and challenges for clinical translation." Nature reviews. Genetics, vol. 18, no. 6, 2017, pp. 362-376.|
|Kishimoto K, Nomura J, Ellegood J, Fukumoto K, Lerch JP, Moreno-De-Luca D, Bourgeron T, Tamada K, Takumi T. "Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication." Genes to cells : devoted to molecular & cellular mechanisms, vol. 22, no. 5, 2017, pp. 436-451.|
|Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium. "Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia." Molecular autism, vol. 8, 2017, pp. 21.|
|Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J, iPSYCH-Broad Autism Group., Psychiatric Genomics Consortium Autism Group., Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. "Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders." Nature Genetics, vol. 49, no. 7, 2017, pp. 978-985.|
|Mitchel MW, Moreno-De-Luca D, Myers SM, Finucane B, Ledbetter DH, Martin CL, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. "17q12 Recurrent Deletion Syndrome." 2016.|
|Moreno-De-Luca D. "Beyond the Diagnosis: A Path Toward Understanding Behavior Through the Lens of Rare Genetics." Biological Psychiatry, vol. 80, no. 2, 2016, pp. 92-93.|
|Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH Jr, Devlin B. "A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?." Biological Psychiatry, vol. 77, no. 9, 2015, pp. 775-84.|
|Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, Autism Sequencing Consortium., Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. "Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci." Neuron, vol. 87, no. 6, 2015, pp. 1215-1233.|
|Maier R, Moser G, Chen GB, Ripke S, Cross-Disorder Working Group of the Psychiatric Genomics Consortium., Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH. "Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder." The American Journal of Human Genetics, vol. 96, no. 2, 2015, pp. 283-94.|
|Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. "Loss of δ-catenin function in severe autism." J. Geophys. Res., vol. 520, no. 7545, 2015, pp. 51-6.|
|Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium. "Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways." Nature Neuroscience, vol. 18, no. 2, 2015, pp. 199-209.|
|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 JE, Faucett WA, Martin CL, Ledbetter DH. "The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions." JAMA Psychiatry, vol. 72, no. 2, 2015, pp. 119-26.|
|Moreno-De-Luca, Daniel, Moreno-De-Luca, Andres, Cubells, Joseph F., Sanders, Stephan J. "Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci." Current Genetic Medicine Reports, vol. 2, no. 3, 2014, pp. 151-161.|
|Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH Jr, Kim SJ. "Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2." Autism Research, vol. 7, no. 3, 2014, pp. 355-62.|
|Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH Jr, Kim SJ. "Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait." Biological Psychiatry, vol. 74, no. 8, 2013, pp. 576-84.|
|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, vol. 12, no. 4, 2013, pp. 406-14.|
|Cross-Disorder Group of the Psychiatric Genomics Consortium., Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S, Devlin B, Kelsoe JR, Sklar P, Daly MJ, O'Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC). "Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs." Nature Genetics, vol. 45, no. 9, 2013, pp. 984-94.|
|Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH. "Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts." Molecular Psychiatry, vol. 18, no. 10, 2013, pp. 1090-5.|
|Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH Jr, Roeder K, Devlin B. "Common genetic variants, acting additively, are a major source of risk for autism." Molecular autism, vol. 3, no. 1, 2012, pp. 9.|
|Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. "An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities." Genet Med, vol. 13, no. 9, 2011, pp. 777-84.|
|Moreno-De-Luca D, Cubells JF. "Copy number variants: a new molecular frontier in clinical psychiatry." Current Psychiatry Reports, vol. 13, no. 2, 2011, pp. 129-37.|
|Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. "Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism." Neuron, vol. 70, no. 5, 2011, pp. 863-85.|
|Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA. "Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency." European journal of human genetics : EJHG, vol. 18, no. 11, 2010, pp. 1216-20.|
|Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ, GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. "Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia." The American Journal of Human Genetics, vol. 87, no. 5, 2010, pp. 618-30.|
|Serrano NC, Díaz LA, Casas JP, Hingorani AD, Moreno de Lucca D, Páez MC. "Frequency of eNOS polymorphisms in the Colombian general population." BMC genetics, vol. 11, 2010, pp. 54.|
|Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C. "Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism." American journal of medical genetics. Part A, vol. 152A, no. 9, 2010, pp. 2346-54.|
|Delorme R, Moreno-De-Luca D, Gennetier A, Maier W, Chaste P, Mössner R, Grabe HJ, Ruhrmann S, Falkai P, Mouren MC, Leboyer M, Wagner M, Betancur C. "Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder." BMC Medical Genetics, vol. 11, 2010, pp. 100.|
|Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C. "Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders." Biological Psychiatry, vol. 66, no. 4, 2009, pp. 349-59.|
|Giegling I, Moreno-De-Luca D, Calati R, Hartmann AM, Möller HJ, De Ronchi D, Rujescu D, Serretti A. "Tyrosine hydroxylase and DOPA decarboxylase gene variants in personality traits." Neuropsychobiology, vol. 59, no. 1, 2009, pp. 23-7.|
|Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P, Delorme R, Durand CM, Fauchereau F, Botros HG, Leboyer M, Mouren-Simeoni MC, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Gillberg C, Moreno-De-Luca D, Carone S, Nummela I, Rossi M, Battaglia A, International Molecular Genetic Study of Autism Consortium (IMGSAC)., Jarvela I, Maestrini E, Bourgeron T. "Analysis of X chromosome inactivation in autism spectrum disorders." Am. J. Med. Genet., vol. 147B, no. 6, 2008, pp. 830-5.|
|Giegling I, Moreno-De-Luca D, Rujescu D, Schneider B, Hartmann AM, Schnabel A, Maurer K, Möller HJ, Serretti A. "Dopa decarboxylase and tyrosine hydroxylase gene variants in suicidal behavior." Am. J. Med. Genet., vol. 147, no. 3, 2008, pp. 308-15.|
|Pinzón JB, Serrano NC, Díaz LA, Mantilla G, Velasco HM, Martínez LX, Millán PA, Acevedo SM, Moreno D. "[Impact of the new definitions in the prevalence of the metabolic syndrome in an adult population at Bucaramanga, Colombia]." Biomedica : revista del Instituto Nacional de Salud, vol. 27, no. 2, 2007, pp. 172-9.|
|Díaz-Martínez L, Serrano N, Pinzón J, Mantilla G, Velasco H, Martínez L, Millán P, Acevedo S, Moreno D, Sus SE. "[Lack of association between metabolic syndrome and depressive symptoms in Colombian adults]." Revista medica de Chile, vol. 135, no. 8, 2007, pp. 990-6.|
Autism Spectrum Disorders (ASD), which affect over 1% people worldwide, have a strong genetic component, as evidenced by their high heritability. Multiple rare copy number variants (CNVs) and single nucleotide variants (SNVs) have been strongly associated with autism. Even though specific genetic variants are rare individually, with none of them accounting for more than 1% of the cases, in aggregate they can explain up to 40% of cases, and potentially impact more people with ASD in the US than those infected by HIV, for example. Because of this, genetic testing, specifically chromosomal microarray testing (CMA) and Fragile X testing, are considered the standard of care for ASD and are recommended by multiple professional societies. However, there is a a low adoption of clinical genetic testing for ASD in the community, as well as a clear lack of a clear roadmap for using the results of genetic testing in psychiatry treatment algorithms.
Our current research focuses on 1) understanding the barriers and facilitators to genetic testing at the patient, physician, and systems level in healthcare settings in order to increase the adoption of genetic testing for ASD, and 2) developing and implementing systematic, evidence-based approaches to using genetic information in clinical care for psychiatric conditions that have a high heritability, moving our field towards precision medicine.
At the PRecISion Medicine in Autism (PRISMA) research group, our work is clustered around genetics-first and phenotype-first approaches, aiming to span across traditional diagnostic boundaries, including the following selected examples:
1. Discovery and characterization of 17q12 deletions as high-risk variants for neurodevelopmental disorders. During my postdoctoral training in neurogenetics at Emory University, we identified a rare deletion in chromosome 17q12 among people referred for clinical genetic testing because of autism. As a part of an international collaboration, we expanded our studies to several other populations and discovered that this copy number variant (CNV) also increased risk for schizophrenia. As a follow up to these studies, we wrote the GeneReviews chapter on 17q12 deletions, serving as a guide for clinicians and researchers focusing on this area.
2. Rare genetic mutations in autism and other psychiatric disorders. During my master’s training at the Université Pierre et Marie Curie – Sorbonne Universités in Paris, France, we focused on identifying recurrent CNVs at chromosome 15q11.2-q13 and chromosome 22q11.2 in autism and other neurodevelopmental disorders. I expanded on this work during my postdoctoral fellowship in neurogenetics, where I had the opportunity of participating in two international collaborations: the Simons Simplex Collection and the Psychiatric Genomics Consortium. Through these, we identified multiple rare and common variants conferring risk for autism, schizophrenia, and other developmental disorders.
3. Precision medicine for autism and neurodevelopmental disorders. During my training in psychiatry at Yale and in Child and Adolescent Psychiatry at Brown, and now as an Assistant Professor at Brown, I have been focusing on assessing barriers and opportunities for the implementation and dissemination of genetic testing at a large scale within a healthcare system, and on developing and implementing systematic, evidence-based approaches to using genetic information in clinical care for psychiatric conditions that have a high heritability. This translational research work is synergistic with my current clinical activities, which include the establishment of the Genetic Psychiatry Consultation Service within the Verrecchia clinic for Children with Autism and Developmental Disabilities at Bradley Hospital, where we aim to provide actionable clinical recommendations based on pathogenic genetic results for people with autism or other developmental or neuropsychiatric conditions.
National Institute of Health (NIH) / National Institute on Mental Health (NIMH)
Project: A Genomic Approach to Autism and Schizophrenia Risk through 17q12 CNVs
PI. Integration of digital, remote, cross-diagnostic neurobehavioral and medical phenotyping with genome sequencing to understand factors influencing the expression of mental health comorbidities associated with rare, highly penetrant CNVs in 17q12.
Bradley Hospital & Hasbro Children’s Hospital
Bradley / Hasbro Pilot Research Award Project: Implementation & Outcomes of the Genetic Psychiatry Consultation Service: A Road towards Precision Medicine in Autism (PRISMA) PI, with Chanika Phornphutkul. Implementation project focused on the establishment of the new Genetic Psychiatry Consultation Service, which focuses on providing actionable clinical recommendations to people with autism and developmental disabilities with an underlying pathogenic genetic change, and the integration of research on outcomes as a key component of this clinical activity.
Carney Institute for Brain Science, Brown University
Carney Innovation Award
Project: Development of Experimental Models for Rare Genetic Disorders in Autism and Schizophrenia
Co-PI, with Eric Morrow, MD PhD. Collaborative, interdisciplinary project using advanced methods of CRISPR/Cas9 genome-editing and human stem cell methods to establish and validate experimental models (mice and patient-derived stem cells) for the 17q12 CNV disorders.
Department of Psychaitry, Yale University
Thomas P. Detre Fellowship Awards in Translational Neuroscience Research in Psychiatry
Project: Framework Development for Neurogenetic Psychiatry Clinics
Preliminary assessment and framework development for the establishment of Translational Psychiatry Clinics tailored specifically to individuals with known neurogenetic conditions as a way towards personalized medicine.
American Psychiatric Association (APA)
Minority Fellowship Program
Project: Genetics of Neuropsychiatric Disorders
Joint effort between Yale University and the University of California at San Francisco in the US, and the Institut Pasteur France, to understanding the genetic underpinnings of autism and other neurodevelopmental conditions and the modulatory effect exerted by cultural background.
Cubells, J,Moreno-De-Luca, D.“Neurodevelopmental Genomics of Autism, Schizophrenia and Related Disorders”, inNeural Circuit Development and Function in the Healthy and Diseased Brain: Comprehensive Developmental Neuroscience. 1sted. Rubenstein, J and Rakic, P, eds. USA: Academic Press (Elsevier), 2013. P 695-708. Print.
Quality Improvement Projects
We established the clinical and administrative support, as well as educational material and procedure standardization required to implement clinical genetic testing for people with autism and developmental disabilities at Bradley Hospital
|2008||MSc||Université Paris 6 Pierre and Marie Curie|
|2005||MD||Universidad Industrial de Santander|
|Child and Adolescent Psychiatry Fellow / Chief Fellow, Research||Brown Univeristy , child and adolescent psychiatry||2016-2018|
|Psychiatry Resident / Neuroscience Research Training Program Fellow||Yale University, psychiatry||2012-2016|
|Neurogenetics Postdoctoral Fellow||Emory University, human genetics||2008-2012||Atlanta, GA, USA|
Haffenreffer Family House Staff Excellence Award. Rhode Island Hospital, Brown University. Providence, USA. 2018
Laughlin Foundation Outstanding Resident Merit Award. Yale University. New Haven, USA. 2016
Travel Award for the XIVth, XVth, & XXIst World Congress on Psychiatric Genetics, International Society of Psychiatric Genetics. Cagliari, Italy, 2006; New York, USA, 2007; Boston, USA, 2013
2013 Seymour Lustman Research Award in Psychiatry. Department of Psychiatry, Yale University. New Haven, USA. 2013
Awardee of the 2013 American Psychiatric Association Minority Fellowships Program. Project: Autism Neuropsychiatric genetics fellowship at the Institut Pasteur American Psychiatric Association. Paris, France. 2013
2010 & 2012 Merit Award for Achievement as an Invited Speaker at an International Science Meeting. Postdoctoral Fellow Research Symposium, Emory University School of Medicine. Atlanta, USA. 2010 & 2012
Dean J. Danner Paper of The Year Award for the Best Publication from The Department of Human Genetics. Department of Human Genetics, Emory University School of Medicine. Atlanta, USA. 2011
Scholarship for the 52nd Annual Short Course on Medical and Experimental Mammalian Genetics. The Jackson Laboratory. Bar Harbor ME. 2011
Trainee Research Semifinalist Award, 60th Annual Meeting of the American Society of Human Genetics. Washington DC, USA. 2010
Scholarship for the Child Neurology 2009 course, Harvard Medical School – Department of Continuing Education. Cambridge, USA. October 2009
2009 Best Poster – Neuroscience. Postdoctoral Fellow Research Symposium, Emory University School of Medicine. Atlanta, USA. 2009
Mention Bien (Magna Cum Laude) – Master’s in Neuroscience (M.Sc.). Université Pierre et Marie Curie, Paris VI. Paris, France. 2008
Awardee of the Young Investigators Program from Colciencias 2006. Colombian institute for the development of science and technology, Colciencias. Bucaramanga, Colombia. 2006
Awardee of the 2006 Coimbra Group Scholarships Program for Young Professors and Researchers from Latin American Universities. Coimbra Group and Università Degli Studi di Bologna. Bologna, Italy. 2006
Distinguished (Honors) Student. Universidad Industrial de Santander. Bucaramanga, Colombia. 2004 & 2005
Fellowship for the 6th Course in Genetic Counseling in Practice. European Society of Human Genetics and European Genetics Foundation. Bertinoro di Romagna, Italy. 2005
Fellowship for the First World Conference on the Future of Science. Umberto Veronesi Foundation and Giorgio Cini Foundation. Venice, Italy. 2005
Fellowship for the Theoretical Course “Molecular Aspects of Chromosomal Instability”. International Centre for Genetic Engineering and Biotechnology (ICGEB). Trieste, Italy. 2005
Fellowship for the Diplomate in Clinical Epidemiology. Universidad Industrial de Santander. Bucaramanga, Colombia. 2005
|Anders, Thomas||Adjunct Professor of Psychiatry and Human Behavior|
|Armey, Michael||Associate Professor of Psychiatry and Human Behavior (Research)|
|Cammuso, Karen||Clinical Assistant Professor of Psychiatry and Human Behavior|
|Carskadon, Mary||Professor of Psychiatry and Human Behavior|
|Elwy, Anashua Rani||Associate Professor of Psychiatry and Human Behavior, Associate Professor of Behavioral and Social Sciences|
|Horowitz, Karyn||Clinical Associate Professor of Psychiatry and Human Behavior|
|Hunt, Jeffrey||Professor of Psychiatry and Human Behavior|
|Jones, Rich||Professor of Psychiatry and Human Behavior, Professor of Neurology|
|Kavanaugh, Brian||Assistant Professor of Psychiatry and Human Behavior (Research)|
|Morrow, Eric||Mencoff Family Associate Professor of Biology, Associate Professor of Neuroscience, Associate Professor of Psychiatry and Human Behavior|
|Phornphutkul, Chanika||Professor of Pediatrics, Clinician Educator, Professor of Pathology and Laboratory Medicine, Clinician Educator|
|Rasmussen, Steven||Mary E. Zucker Professor of Psychiatry and Human Behavior, Chair of Psychiatry and Human Behavior|
|Righi, Giulia||Assistant Professor of Psychiatry and Human Behavior (Research)|
|Sarkar, Neil||Director of the Center for Biomedical Informatics, Associate Professor of Medical Science, Associate Professor of Health Services, Policy and Practice|
|Sheinkopf, Stephen||Associate Professor of Psychiatry and Human Behavior, Associate Professor of Pediatrics|
American Academy of Child and Adolescent Psychiatry (AACAP)
Rhode Island Psychiatric Society
World Psychiatric Association (WPA)
International Society of Psychiatric Genetics (ISPG)
American Society of Human Genetics (ASHG)
National Neuroscience Curriculum Initiative (NNCI)
|MD||State of Rhode Island and Providence Plantations||-||#16266|
|Accreditation to provide patient care in Spanish, French, and Italian||Lifespan||-|
|Expert Witness||Florida, Psychiatric Genetics||-||#MEEW4773|
|Attending Child, Adolescent, and Adult Psychiatrist. Bradley Hospital, 2018-|
This is an exciting time in psychiatry. For the last few years, we have been witnessing an accelerated pace of genetic discoveries that are redefining our understanding of mental health disorders spanning from autism to schizophrenia. Insights have come from common and rare genetics alike, fueled by techniques that have a higher resolution and a lower cost. However, most psychiatrists were trained in an era that preceded this cutting-edge work, and psychiatry residency and fellowship programs have not yet integrated this new information into their curricula. Current challenges include determining unified content areas that should be known by psychiatrists, as well as implementing the delivery and teaching of these concepts using principles of adult learning. Here, we describe joint efforts to address this practice gap, using rare genetics as a vehicle.
Multiple stakeholders have gotten together to address this issue. The Education Taskforce of the International Society of Psychiatric Genetics (ISPG) was formed to identify and standardize key content areas that should be covered in psychiatry training programs across the globe, while the National Neuroscience Curriculum Initiative (NNCI) has focused on implementing the delivery of this content. As a member of both the NNCI and ISPG, along with our colleagues we have developed an interactive case conference focusing on teaching principles and applications of rare genetics in psychiatry, using autism spectrum disorders (ASD) as an example to provide clinical correlation and applicability of this knowledge.
We designed the module using the NNCI standards, and included supporting media material and guidance for facilitators to allow for this material to be free-standing and independent from local expertise for its delivery. The resource is free to use and available here: http://www.nncionline.org/course/autism-spectrum-disorder/. Tp date, we have administered this exercise to over 500 psychiatry residents, fellows, and psychiatry program directors at diverse settings, and obtained pre and post knowledge assessments, as well as qualitative data on impressions and utility of the module.
Currently, I have had the privilege of teaching psychiatric genetics to psychiatry residents, child and adolescent psychiatry fellows, psychology residents and fellows, and undergraduates at Brown University, using the aforementioned materials and other resources, in addition to providing a forum for the dissemination of this knowledge in the community, including talks at The Autism Project, The Groden Center, and Brown Parents weekend.