Thomas Fernandez, MD
Associate Professor In the Child Study Center and in PsychiatryCards
About
Titles
Associate Professor In the Child Study Center and in Psychiatry
Vice Chair for Research, Child Study Center; Co-Director of the Tic and OCD Program, Child Study Center; Affiliated Faculty, Yale Institute for Global Health
Biography
Dr. Fernandez is a child psychiatrist and psychiatric geneticist who has an active clinical practice and research laboratory. Tom is a graduate of Princeton University and Yale School of Medicine, with additional research training at the National Institute of Mental Health in Bethesda, Maryland. He completed residency training in child, adolescent, and adult psychiatry in the Solnit Integrated Residency Program at Yale. As a faculty member in Yale Child Study Center and the Department of Psychiatry, Tom's research efforts include the following investigations into developmental neuropsychiatric disorders: (1) discovering genetic mutations in Tourette syndrome, motor stereotypies, obsessive-compulsive disorder, ADHD, and anxiety disorders using next generation DNA sequencing (whole genome and exome), and using these discoveries to identify treatment targets; (2) discovering epigenetic marker variation in these disorders; and (3) clinical trials of new behavioral and medication treatments. Tom has received research funding from the NIMH (K08, R01), Brain & Behavior Research Foundation (NARSAD), Simons Foundation, and Allison Family Foundation. Additionally, Tom works clinically as an attending in the Tourette/OCD/ADHD Clinic at Yale Child Study Center.
Appointments
Child Study Center
Associate Professor on TermFully JointPsychiatry
Associate Professor on TermFully Joint
Other Departments & Organizations
- Center for Biomedical Data Science
- Center for Brain & Mind Health
- Child Study Center
- Fernandez Lab
- Neuroscience Research Training Program (NRTP)
- Program in Neurodevelopment and Regeneration
- Psychiatry
- Tic Disorder & Obsessive Compulsive Disorder Program
- Yale Medicine
Education & Training
- Fellowship
- Yale Child Study Center (2012)
- Residency
- Yale-New Haven Hospital (2011)
- Residency
- Yale-New Haven Hospital (2010)
- MD
- Yale University School of Medicine (2005)
- BA
- Princeton University, Psychology (1997)
Research
Overview
Dr. Fernandez's current focus is to discover which combinations of genes are underlying risk for these disorders in individuals and extended families. There are multiple pathways to this type of discovery, including identification of discrete genetic sequence changes in those with disease (using whole-exome and whole-genome DNA sequencing), detecting deletions and duplications that encompass larger regions of human chromosomes (using DNA sequencing and microarray technologies), and finding markers on DNA that regulate gene expression but do not alter the genetic sequence or structure (i.e. epigenetic markers that are dynamic throughout development). The end goal of this research is to identify networks of genes that increase risk for illness and teach us larger lessons about underlying disease biology that can be leveraged for improving diagnosis and treatment.
Medical Research Interests
Public Health Interests
Publications
2025
Interneuron loss and microglia activation by transcriptome analyses in the basal ganglia of Tourette disorder
Wang Y, Fasching L, Wu F, Suvakov M, Huttner A, Berretta S, Roberts R, Leckman J, Fernandez T, Abyzov A, Vaccarino F. Interneuron loss and microglia activation by transcriptome analyses in the basal ganglia of Tourette disorder. Biological Psychiatry 2025 PMID: 39892689, DOI: 10.1016/j.biopsych.2024.12.022.Peer-Reviewed Original ResearchActivity of cis-regulatory elementsCis-regulatory elementsMedium spiny neuronsDifferential gene expression analysisChromatin accessibility analysesCell typesDifferential gene expressionGene expression changesMitochondrial oxidative metabolismGene expression analysisSnATAC-seqOpen chromatin datasetsPutative enhancersSynaptic adhesionChromatin datasetsOxidative metabolismEpigenomic regulationTranscriptome analysisActivation of immune responsesIdentified cell typesExpression analysisSynaptic dysfunctionGene expressionExpression changesTranscriptomeChapter 52 Obsessive–compulsive disorder
Abdallah S, Olfson E, Fernandez T. Chapter 52 Obsessive–compulsive disorder. 2025, 937-950. DOI: 10.1016/b978-0-443-19176-3.00011-x.ChaptersObsessive-compulsive disorderObsessive-compulsive disorder etiologiesCognitive behavioral therapySerotonin reuptake inhibitorsReuptake inhibitorsBehavioral therapyMedication augmentationNeuroanatomical alterationsNeurochemical imbalanceMedication trialsGenetic influencesImprove treatment outcomesEvidence-based therapeutic strategiesTreatment outcomesRobust clinical trialsDisordersClinical manifestationsTreatment optionsClinical trialsTherapeutic strategiesSerotoninMultifactorial naturePharmacotherapyNeuromodulationTrialsChapter 53 Tourette syndrome
Abdallah S, Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F, Fernandez T. Chapter 53 Tourette syndrome. 2025, 951-962. DOI: 10.1016/b978-0-443-19176-3.00044-3.ChaptersTourette syndromeCortico-striatal-thalamo-cortical circuitryStriatal volume lossAdult TS patientsNeuroimaging studiesNeuropsychiatric disordersDopaminergic receptorsVocal ticsStriatal interneuronsClasses of striatal interneuronsBasal gangliaMetabolic hypofunctionEnvironmental risk factorsTS patientsAmeliorate symptomsGenetic contributionMolecular abnormalitiesPharmacological strategiesCircuitryAffecting 1Animal modelsRisk factorsInterneuronal circuitryVolume lossAbnormalities
2024
Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic
Fitzpatrick S, Antony I, Nurmi E, Fernandez T, Chung W, Brownstein C, Gonzalez-Heydrich J, Gur R, Merner A, Lázaro-Muñoz G, State M, Simon K, Hoffman E. Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic. JAACAP Open 2024 DOI: 10.1016/j.jaacop.2024.06.002.Peer-Reviewed Original ResearchGenetic testingHigh-confidence risk genesPsychiatric geneticsApproaches to gene discoveryGenetic researchTranslational genetic researchClinical genetic testingEra of genomicsWhole-exome sequencingChild psychiatric disordersGenetic architectureGene discoveryClinical evaluationPharmacogenetic testingExome sequencingRisk genesGenetic underpinningsGenetic findingsEarly-onset psychosisPsychiatric disordersGenetic conceptsGeneticsLack of familiarityClinical practiceObsessive-compulsive disorderRare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Olfson E, Farhat L, Liu W, Vitulano L, Zai G, Lima M, Parent J, Polanczyk G, Cappi C, Kennedy J, Fernandez T. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. Nature Communications 2024, 15: 5870. PMID: 38997333, PMCID: PMC11245598, DOI: 10.1038/s41467-024-50247-7.Peer-Reviewed Original ResearchConceptsDNA sequencesRisk genesHigh-confidence risk genesWhole-exome DNA sequencingSequencing of familiesIdentified de novoLysine demethylase 5BDNA variantsTrio cohortBiological pathwaysGenesSequencing cohortGenetic factorsChildhood neurodevelopmental disordersAttention-deficit/hyperactivity disorderSequenceVariantsADHD riskNeurodevelopmental disordersKDM5BDNAMutationsFamilyLysineDiscoveryThe genetics of trichotillomania and excoriation disorder: A systematic review
Reid M, Lin A, Farhat L, Fernandez T, Olfson E. The genetics of trichotillomania and excoriation disorder: A systematic review. Comprehensive Psychiatry 2024, 133: 152506. PMID: 38833896, PMCID: PMC11513794, DOI: 10.1016/j.comppsych.2024.152506.Peer-Reviewed Original ResearchSystematic reviewGenome-wide researchGenome-wide associationDNA sequencing studiesDiscovery of risk genesWeb of ScienceGenetic factorsObsessive-compulsive disorderGenetic epidemiologyGenetic risk factorsSequencing studiesRisk genesGeneral populationMolecular geneticsExcoriation disorderRisk factorsGeneticsFirst-line medicationPsychiatric disordersObsessive-compulsive related disordersObsessive-compulsive disorder spectrumBody-focused repetitive behaviorsDevelopment of trichotillomaniaPsycINFOGenomeIntense Imagery Movements May Lead to Maladaptive Daydreaming: A Case Series and Literature Review.
Hedderly T, Eccles C, Malik O, Abdulsatar F, Mitchell C, Owen T, Soffer-Dudek N, Grose C, Fernandez TV, Robinson S, Somer E. Intense Imagery Movements May Lead to Maladaptive Daydreaming: A Case Series and Literature Review. Mov Disord Clin Pract 2024 PMID: 38533626, DOI: 10.1002/mdc3.14011.Peer-Reviewed Original ResearchWhat Parents Should Know About Complex Motor Stereotypies
Chawarska K, Fernandez T, Torres-Visio M. (2024, February). What Parents Should Know About Complex Motor Stereotypies. Autism Advocate Parenting Magazine, Issue 41, 15-17.Publications for non-academic audiences
2023
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C, Bal V, Langley K, Martin J, Hoekstra P, Dietrich A, Xing J, Heiman G, Tischfield J, Fernandez T, Owen M, O’Donovan M, Thapar A, State M, Willsey A. Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nature Communications 2023, 14: 8077. PMID: 38057346, PMCID: PMC10700338, DOI: 10.1038/s41467-023-43776-0.Peer-Reviewed Original ResearchConceptsDamaging variantsHigh-confidence ASD risk genesExome-wide significanceRare genetic variationASD risk genesRare damaging variantsHemizygous natureWhole-exome sequencing studiesExome sequencing studiesGene discoveryMultiple neurodevelopmental disordersGenetic variationGenetic mechanismsChr XMale sex biasSequencing studiesChromosome XRisk genesTransmission disequilibrium testAttention-deficit/hyperactivity disorderASD probandsAutism spectrum disorderASD familiesSex biasInformative recombinationsClinical characteristics of probands with obsessive-compulsive disorder from simplex and multiplex families
Lima M, Saraiva L, Ramos V, Oliveira M, Costa D, Disorders B, Fernandez T, Crowley J, Storch E, Shavitt R, Miguel E, Cappi C. Clinical characteristics of probands with obsessive-compulsive disorder from simplex and multiplex families. Psychiatry Research 2023, 331: 115627. PMID: 38113811, PMCID: PMC11129832, DOI: 10.1016/j.psychres.2023.115627.Peer-Reviewed Original Research
Clinical Trials
Current Trials
Neurofeedback for Tourette Syndrome
HIC ID2000033043RoleSub InvestigatorPrimary Completion Date12/20/2026Recruiting ParticipantsGenderBothAge10 years - 16 yearsBiomarkers of Clinical Subtype and Treatment Response in Obsessive-Compulsive Disorder
HIC ID0803003626RoleSub InvestigatorPrimary Completion Date04/19/2025Recruiting ParticipantsGenderBothAge18 years - 70 yearsGenetic and molecular studies of developmental neuropsychiatric disorders
HIC ID0301024156RolePrincipal InvestigatorPrimary Completion Date12/31/2025Recruiting ParticipantsGenderBoth
Academic Achievements & Community Involvement
Clinical Care
Overview
Thomas Fernandez, MD, is a child psychiatrist who specializes in diagnosing and treating Tourette syndrome, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, and anxiety disorders. He works closely with children, adolescents, and their families to help manage symptoms through medical and behavioral approaches.
As an associate professor in the Child Study Center and in psychiatry at Yale School of Medicine, Dr. Fernandez researches the role of genetic changes in these conditions. “My research program aims to identify the most relevant targets for new treatments and speed their translation into the clinic,” he says. “As a practicing child psychiatrist, this translational potential is the most important motivation for my work.”
Dr. Fernandez received his medical training from Yale School of Medicine, where he also completed residency and fellowship training in psychiatry and childhood neuropsychiatric disorders. He has been recognized internationally, including as a finalist for the Ziskind-Somerfeld Research Award by the Society of Biological Psychiatry.
Clinical Specialties
News & Links
News
- August 05, 2024
ADHD and DNA: Bedside-to-bench, International Study Sheds Light on Genetics
- July 08, 2024
2024 trainee pilot research award recipients announced
- May 10, 2024
Autism conference at Yale highlights latest research & clinical advances
- April 12, 2024
Spring 2024 postgraduate associate travel award recipients announced
Get In Touch
Contacts
Locations
Neison Irving Harris Building
Academic Office
230 South Frontage Road
New Haven, CT 06519
Patient Care Locations
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