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Daniel Moreno De Luca

CASA Research Chair Associate Professor & Principal Investigator Precision Medicine in Autism (PRISMA) Group Child and Adolescent, and Adult Psychiatrist

Phone:

+1 780 492 4467

Email:

Address:

11361 87th Ave - Suite 5-020K

University of Alberta

Edmonton, Alberta AB T6G 2E1

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Overview

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 on the 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. 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 to clinical practice with a focus on genomically-informed interventions and precision medicine.

 

Throughout this path, I have had the opportunity to work closely with trainees at different levels, including psychiatry residents and child and adolescent psychiatry fellows who I supervise as they deliver healthcare in our genomic psychiatry consultation service, the clinical arm of our research efforts, and who are now starting their path into academic clinical medicine.

 

Most importantly, I work closely and jointly with the community of people with rare genetic changes and those on the autism spectrum or developmental disorders to ensure that their voices and insights are front and center, keeping our efforts grounded.

 

Together, we achieve this by a strong focus on outreach and media strategies that can share our research discoveries, our clinical efforts, and our educational opportunities in a clear, accesible way in several languages. In my current role as the inaugural CASA Research Chair at the University of Alberta, CASA Mental Health, and Alberta Health Services, we will continue expanding on our work on precision medicine for autism and neurodevelopmental conditions

Research Areas

On the Web

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Background

Background

Library

Training

Fellowship in Bioethics

Harvard Medical School - Boston, Massachusetts

2021-2022

Child and Adolescent Psychiatry Fellow / Chief Fellow, Research

Brown Univeristy , Child and Adolescent Psychiatry - Providence, Rhode Island

2016-2018

 

Psychiatry Residency & Neuroscience Research Training Program (NRTP)

Yale University, psychiatry - New Haven, Connecticut

2012-2016

 

Postdoctoral Fellowship in Neuropsychiatric Genetics & Human Disease Genetics Training Program

Emory University, Human Genetics - Atlanta, Georgia 

2008-2012

 

Master’s in Neuroscience (MSc)

Université Pierre et Marie Curie, Sorbonne Universités. Paris, France - Mention Bien (Magna Cum Laude)

2007 to 2008

 

Diplomate in Clinical Epidemiology

Universidad Industrial de Santander. Bucaramanga, Colombia

2005

 

Medicine (MD)

Universidad Industrial de Santander. Bucaramanga, Colombia

2000 to 2005

Honors and Awards

  • 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. 2013Awardee 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

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Affiliations

Affiliations

Library Shelves
  • American Academy of Child and Adolescent Psychiatry (AACAP)

  • World Psychiatric Association (WPA)

  • International Society of Psychiatric Genetics (ISPG)

  • Latin American Genomics Consortium (LAGC)

  • National Neuroscience Curriculum Initiative (NNCI)

  • Canadian Academy of Child and Adolescent Psychiatry (CACAP)

Credentials/Licenses

Expert Witness
Florida, Psychiatric Genetics
Diplomate
ABPN, Child and Adolescent Psychiatry
Diplomate
ABPN, Psychiatry
Specialist Physician, Child, Adolescent and Adult Psychiatry
CPSA
Medical License
State of Rhode Island and Providence Plantations

Appointments

CASA Research Chair & Associate Professor. University of Alberta, 2023 - to date

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Research

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Research

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), 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, with growing support for exome sequencing as a first tier test.

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

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. 

Research Statement

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.

  • Mitchel MW, Moreno-De-Luca D, Myers SM, Finucane B, Ledbetter DH, Martin CL. 17q12 Recurrent Deletion Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2016 Dec 

  • 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. Am J Hum Genet. 2010 Nov 12;87(5):618-30

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.

 

  • 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. Biol Psychiatry. 2009 Aug 15;66(4):349-59

  • Delorme R*, Moreno-De-Luca D*, Gennetier A, Maier W, Chaste P, Mossner 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 Med Genet. 2010 Jun 21;11(1):100. *Co-first authorship

  • 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 copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism. Neuron. 2011 Jun 9;70(5):863-85

  • Moreno-De-Luca D, Moreno-De-Luca A, Cubells JF, Sanders SJ. Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci. Current Genetic Medicine Reports 2 (3), 151-161

  • 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. 2015 Sep 23;87(6):1215-33

  • 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. 2015 Feb 1;72(2):119-26

  • 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. Mol Psychiatry. 2013 Oct;18(10):1090-5

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. 

  • Goldstein J, Ross DA, Moreno De Luca D. Found in Translation: Autism Genetics and the Quest for Its Rosetta Stone.Biol Psychiatry. 2019 Apr 1;85(7):e29-e30.

  • Moreno-De-Luca D. Forging the path for PRecISion Medicine in Autism: The PRISMA Neurogenetic Psychiatry Consultation Service. CABL. 2018 Jan 15;34(2):p1-7. doi:10.1002/cbl.30270

  • 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?Biol Psychiatry. 2018 Apr 15;83(8):e45-e46. doi: 10.1016/j.biopsych.2018.02.013

  • Vorstman JA, Parr JR, Moreno-De-Luca D, Anney RJ, Nurnberger JI Jr, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017 Jun;18(6):362-376

  • Moreno-De-Luca D.Beyond the Diagnosis: A Path Toward Understanding Behavior Through the Lens of Rare Genetics.Biol Psychiatry. 2016 Jul 15;80(2):92-3

Funded Research

Current

CASA Reseach Chair / University of Alberta, CASA Mental Health, Alberta Health Services

 

Past

  • National Institute of Health (NIH) / National Institute on Mental Health (NIMH) K23MH120376Project: 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.

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Teaching
Lined Up Books

Teaching

Overview

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), which I currently Co-Chair, 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.

  • Besterman AD, Moreno-De-Luca D, Nurnberger JI Jr. 21st-Century Genetics in Psychiatric Residency Training: How Do We Get There?JAMA Psychiatry. 2019 Jan 2.

  • 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. 2018 Nov 27;80(1).

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