2025
A Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes
Thom R, Warren T, Khan S, Muhle R, Wang P, Brennand K, Zürcher N, Veenstra-VanderWeele J, Hoffman E. A Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes. Journal Of Child And Adolescent Psychopharmacology 2025, 35: 178-193. PMID: 40138183, DOI: 10.1089/cap.2025.0023.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderNeurogenetic syndromesSpectrum disorderNeurobiology of autism spectrum disordersRett syndromeTarget engagementEvaluation of target engagementPlacebo responseEvaluate target engagementClinical trialsClinical trial design strategiesIntermediate phenotypesPreclinical model systemsTreatment discoveryObjectives:</i></b>Trial design strategiesTrofinetideMolecular targetsNeurobiologyFace validityHuman clinical trialsPrecision medicineStem cell model systemsPrecision medicine approachIdentification of molecular targets
2024
Mitochondrial Priming Is Heterogenous in t(4;14) Multiple Myeloma and Can be Induced By Inhibition of NSD2
Matulis S, Chavez R, Owens R, Wiita A, Shanmugam M, De Matos Simoes R, Mitsiades C, Joseph N, Hofmeister C, Kaufman J, Dhodapkar M, Lonial S, Nooka A, Gupta V, Licht J, Barwick B, Boise L. Mitochondrial Priming Is Heterogenous in t(4;14) Multiple Myeloma and Can be Induced By Inhibition of NSD2. Blood 2024, 144: 4663-4663. DOI: 10.1182/blood-2024-210441.Peer-Reviewed Original ResearchDynamic BH3 profilingSensitivity to venetoclaxBH3 profilingCyto c releaseT(4;14) MMMultiple myelomaBCL2 family membersVenetoclax sensitivityBroad-spectrum peptideMitochondrial primingC releaseTKO cellsPatient samplesTreatment of multiple myelomaResistance to venetoclaxResponse to venetoclaxPredicting clinical responseT(4;14) multiple myelomaPlasma cell biologyMM cell linesAnnexin V/propidium iodide stainingHigh-risk formsDays of treatmentPrecision medicine approachBCL2 inhibitionAdvances in predicting breast cancer driver mutations: Tools for precision oncology (Review)
Hao W, Rajendran B, Cui T, Sun J, Zhao Y, Palaniyandi T, Selvam M. Advances in predicting breast cancer driver mutations: Tools for precision oncology (Review). International Journal Of Molecular Medicine 2024, 55: 6. PMID: 39450552, PMCID: PMC11537269, DOI: 10.3892/ijmm.2024.5447.Peer-Reviewed Original ResearchConceptsDisease-free survivalBreast cancerPrecision medicine approachAvailability of high-throughput sequencingPrecision oncologyTherapeutic optionsDriver mutationsDisease-free survival of patientsCancer driver gene identificationDriver gene identificationMedicine approachHigh-throughput sequencingSurvival of patientsTargeted therapeutic optionsFraction of patientsCancer driver mutationsTargeted therapeutic approachesBreast cancer treatmentIdentification of driver mutationsBreast cancer mutationsModern era of medicineCancer-specific biomarkersGene identificationCancer DatabaseCancer mutationsNovel physiologic predictors of positive airway pressure effectiveness (NICEPAP) study: rationale, design and methods
Anwar A, Byrne S, Sharma A, Sands S, Wellman A, Redeker N, Yaggi H, Zinchuk A. Novel physiologic predictors of positive airway pressure effectiveness (NICEPAP) study: rationale, design and methods. Sleep And Breathing 2024, 28: 2005-2015. PMID: 38995327, DOI: 10.1007/s11325-024-03099-w.Peer-Reviewed Original ResearchObstructive sleep apneaPositive airway pressure effectObstructive sleep apnea traitsCPAP effectsCPAP adherencePrimary outcomePurposeContinuous positive airway pressureFunctional Outcomes of Sleep QuestionnaireEffects of CPAPPositive airway pressureAcademic sleep centerObservational cohort studyPrecision medicine approachCPAP dataCPAP efficacyBaseline polysomnographySleep apneaPrimary therapyAirway pressureSleep centerArousal thresholdPatient-centered outcomesPharyngeal collapseSleep qualityCPAP
2023
Distinct clinical phenotypes in paediatric cancer patients with sepsis are associated with different outcomes—an international multicentre retrospective study
Asperen R, la Roi-Teeuw H, van Amstel R, Bos L, Tissing W, Jordan I, Dohna-Schwake C, Bottari G, Pappachan J, Crazzolara R, Comoretto R, Mizia-Malarz A, Moscatelli A, Sánchez-Martín M, Willems J, Rogerson C, Bennett T, Luo Y, Atreya M, Faustino E, Geva A, Weiss S, Schlapbach L, Sanchez-Pinto L, consortium of ESPNIC A, Caballero M, Margarit A, Campos R, Möller P, Serpe C, Amigoni A, Damps M, Montaguti A, Tardini G, group T, Bubeck-Wardenburg J, Farris R, Hall M, Chong G, Shah S, Khemani R, Stroup E. Distinct clinical phenotypes in paediatric cancer patients with sepsis are associated with different outcomes—an international multicentre retrospective study. EClinicalMedicine 2023, 65: 102252. PMID: 37842550, PMCID: PMC10570699, DOI: 10.1016/j.eclinm.2023.102252.Peer-Reviewed Original ResearchPaediatric intensive care unitPaediatric cancer patientsLatent class analysisSepsis phenotypesCancer patientsPatient populationInternational multicentre retrospective studyEunice Kennedy Shriver National Institute of Child HealthPaediatric intensive care unit admissionSeverity of organ dysfunctionStem cell transplantationMulticentre retrospective studyOR of deathPhenotype 1Renal replacement therapyNon-cancer patientsPhenotype 2National Institute of Child HealthInstitute of Child HealthIntensive care unitPrecision medicine approachSpecific patient populationsChild healthHigher mortality rateCell transplantationThe New NCI Precision Medicine Trials
Harris L, Blanke C, Erba H, Ford J, Gray R, LeBlanc M, Hu-Lieskovan S, Litzow M, Luger S, Meric-Bernstam F, O'Dwyer P, Othus M, Politi K, Shepherd L, Allegra C, Chen H, Ivy S, Korde L, Little R, McShane L, Moscow J, Patton D, Thurin M, Yee L, Doroshow J. The New NCI Precision Medicine Trials. Clinical Cancer Research 2023, 29: of1-of5. PMID: 37531248, PMCID: PMC10690084, DOI: 10.1158/1078-0432.ccr-23-0917.Peer-Reviewed Original ResearchDepression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses
Als T, Kurki M, Grove J, Voloudakis G, Therrien K, Tasanko E, Nielsen T, Naamanka J, Veerapen K, Levey D, Bendl J, Bybjerg-Grauholm J, Zeng B, Demontis D, Rosengren A, Athanasiadis G, Bækved-Hansen M, Qvist P, Bragi Walters G, Thorgeirsson T, Stefánsson H, Musliner K, Rajagopal V, Farajzadeh L, Thirstrup J, Vilhjálmsson B, McGrath J, Mattheisen M, Meier S, Agerbo E, Stefánsson K, Nordentoft M, Werge T, Hougaard D, Mortensen P, Stein M, Gelernter J, Hovatta I, Roussos P, Daly M, Mors O, Palotie A, Børglum A. Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses. Nature Medicine 2023, 29: 1832-1844. PMID: 37464041, PMCID: PMC10839245, DOI: 10.1038/s41591-023-02352-1.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphism heritabilityGenome-wide analysisLikely causal genesFunctional genomics dataRisk variantsWide association studyPolygenic burdenPsychiatric disordersCausal genesPolygenic architectureGenomic dataRisk lociAssociation studiesSubgroups of depressionCause of disabilityDepression genetic riskCommon psychiatric disordersPrecision medicine approachCases of depressionOligodendrocyte lineageGenesLociConsiderable sex differencesGABAergic neuronsPsychiatric comorbidityEngineered cardiac tissue model of restrictive cardiomyopathy for drug discovery
Wang B, Nash T, Zhang X, Rao J, Abriola L, Kim Y, Zakharov S, Kim M, Luo L, Morsink M, Liu B, Lock R, Fleischer S, Tamargo M, Bohnen M, Welch C, Chung W, Marx S, Surovtseva Y, Vunjak-Novakovic G, Fine B. Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery. Cell Reports Medicine 2023, 4: 100976. PMID: 36921598, PMCID: PMC10040415, DOI: 10.1016/j.xcrm.2023.100976.Peer-Reviewed Original ResearchConceptsRestrictive cardiomyopathyElevated ventricular filling pressuresVentricular filling pressurePrecision medicine approachVariety of cardiomyopathiesPluripotent stem cell-derived cardiomyocytesStem cell-derived cardiomyocytesDiastolic relaxationCardiomyocyte relaxationFilamin CMyocardial relaxationCell-derived cardiomyocytesFilling pressurePotential therapyRelaxation velocityMyocardial stiffnessCalcium kineticsMedicine approachCardiomyopathyTranslational potentialIsogenic control linesCardiac tissuePassive tensionScreening identifiesTissue modelAssociations of clonal hematopoiesis with recurrent vascular events and death in patients with incident ischemic stroke
Arends C, Liman T, Strzelecka P, Kufner A, Löwe P, Huo S, Stein C, Piper S, Tilgner M, Sperber P, Dimitriou S, Heuschmann P, Hablesreiter R, Harms C, Bullinger L, Weber J, Endres M, Damm F. Associations of clonal hematopoiesis with recurrent vascular events and death in patients with incident ischemic stroke. Blood 2023, 141: 787-799. PMID: 36441964, DOI: 10.1182/blood.2022017661.Peer-Reviewed Original ResearchConceptsComposite end pointPrimary composite end pointRecurrent vascular eventsVascular eventsIschemic strokeClonal hematopoiesisInterleukin-6Risk factorsHigh-sensitivity C-reactive proteinLarge artery atherosclerosis strokeVascular cell adhesion molecule-1Cell adhesion molecule-1Secondary vascular eventsIncident ischemic strokeMultivariable Cox regressionIndependent risk factorC-reactive proteinRisk of atherosclerosisShorter overall survivalMajor risk factorWhite matter lesionsAdhesion molecule-1Peripheral blood DNAPrecision medicine approachIL-6 receptor
2022
International pooled patient-level meta-analysis of ketamine infusion for depression: In search of clinical moderators
Price RB, Kissel N, Baumeister A, Rohac R, Woody ML, Ballard ED, Zarate CA, Deakin W, Abdallah CG, Feder A, Charney DS, Grunebaum MF, Mann JJ, Mathew SJ, Gallagher B, McLoughlin DM, Murrough JW, Muthukumaraswamy S, McMillan R, Sumner R, Papakostas G, Fava M, Hock R, Phillips JL, Blier P, Shiroma P, Šóš P, Su TP, Chen MH, Tiger M, Lundberg J, Wilkinson ST, Wallace ML. International pooled patient-level meta-analysis of ketamine infusion for depression: In search of clinical moderators. Molecular Psychiatry 2022, 27: 5096-5112. PMID: 36071111, PMCID: PMC9763119, DOI: 10.1038/s41380-022-01757-7.Peer-Reviewed Original ResearchConceptsMontgomery-Åsberg Depression Rating ScaleIndividual patient-level dataRating ScalePatient-level featuresDepression Rating ScaleHamilton Rating ScalePatient-level dataPrecision medicine approachRelevant psychiatric diagnosisEligible trialsIntravenous ketamineAntidepressant medicationStudy entryKetamine infusionPrior medicationAntidepressant propertiesKetamine effectsControl armClinical moderatorsTreatment decisionsTreatment resistanceStudy-level moderatorsDepressive symptomsPersonalized prescriptionDepression severityDietary adaptation for weight loss maintenance at Yale (DAWLY): Protocol and predictions for a randomized controlled trial
Fang X, Davis X, Flack KD, Duncan C, Li F, White M, Grilo C, Small DM. Dietary adaptation for weight loss maintenance at Yale (DAWLY): Protocol and predictions for a randomized controlled trial. Frontiers In Nutrition 2022, 9: 940064. PMID: 35967820, PMCID: PMC9369668, DOI: 10.3389/fnut.2022.940064.Peer-Reviewed Original ResearchWeight loss maintenanceHigh-fat dietWeight loss treatmentLoss maintenanceWeight lossLoss treatmentStandard behavioral weight loss treatmentShort-term weight lossBehavioral weight loss interventionBehavioral weight loss treatmentGut-brain pathwaysPlacebo-controlled trialGut-brain axisVagal afferent pathwaysGut-brain signalingDietary fat intakeOverweight/obesityWeight loss interventionPrecision medicine approachEnergy-dense foodsLoss interventionFat intakeAfferent pathwaysHabitual intakeMetabolic healthA precision medicine approach to metabolic therapy for breast cancer in mice
Akingbesote ND, Norman A, Zhu W, Halberstam AA, Zhang X, Foldi J, Lustberg MB, Perry RJ. A precision medicine approach to metabolic therapy for breast cancer in mice. Communications Biology 2022, 5: 478. PMID: 35595952, PMCID: PMC9122928, DOI: 10.1038/s42003-022-03422-9.Peer-Reviewed Original ResearchConceptsPrecision medicine approachBreast cancerSodium-glucose transport protein 2 inhibitorsBreast tumorsMedicine approachCanonical insulinSGLT2 inhibitor dapagliflozinEfficacy of paclitaxelBreast tumor-bearing miceTumor glucose uptakeTumor-bearing miceChemotherapy correlatesNeoadjuvant approachNeoadjuvant settingPaclitaxel chemotherapyInhibitor dapagliflozinSGLT2 inhibitorsProlonging survivalAntihyperglycemic drugsPotential adjuvantMetabolic therapyDapagliflozinTumorsDriver mutationsGlucose uptakeThe role of alcohol intake in the pharmacogenetics of treatment with clozapine
Monroy-Jaramillo N, Martínez-Magaña JJ, Pérez-Aldana BE, Ortega-Vázquez A, Montalvo-Ortiz J, López-López M. The role of alcohol intake in the pharmacogenetics of treatment with clozapine. Pharmacogenomics 2022, 23: 371-392. PMID: 35311547, DOI: 10.2217/pgs-2022-0006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsAdverse reactionsAlcohol intakeConcomitant useSevere adverse reactionsGood therapeutic effectPrecision medicine approachRefractory psychosisAtypical antipsychoticsInterindividual responseTherapeutic effectClozapineMedicine approachPharmacogenetic studiesSignificant riskIntakePatientsGenetic variantsPharmacogeneticsAntipsychoticsPsychosisCYP1A2ReceptorsRehabilitation Using Mobile Health for Older Adults With Ischemic Heart Disease in the Home Setting (RESILIENT): Protocol for a Randomized Controlled Trial
Dodson JA, Schoenthaler A, Sweeney G, Fonceva A, Pierre A, Whiteson J, George B, Marzo K, Drewes W, Rerisi E, Mathew R, Aljayyousi H, Chaudhry SI, Hajduk AM, Gill TM, Estrin D, Kovell L, Jennings LA, Adhikari S. Rehabilitation Using Mobile Health for Older Adults With Ischemic Heart Disease in the Home Setting (RESILIENT): Protocol for a Randomized Controlled Trial. JMIR Research Protocols 2022, 11: e32163. PMID: 35238793, PMCID: PMC8931649, DOI: 10.2196/32163.Peer-Reviewed Original ResearchIschemic heart diseaseINTERNATIONAL REGISTERED REPORT IDENTIFIERHeart diseaseOlder adultsCardiac rehabilitationAmbulatory cardiac rehabilitationFuture precision medicine approachesTarget sample sizePrecision medicine approachMobile healthSecondary outcomesControlled TrialsHospital readmissionPrimary outcomeControl armFunctional mobilityAge-specific impairmentClinical trialsEfficacy dataIntervention participantsInternet-based settingHealth statusHealth implementationMedicine approachActivity goalsMultimodal analysis suggests differential immuno-metabolic crosstalk in lung squamous cell carcinoma and adenocarcinoma
Leitner BP, Givechian KB, Ospanova S, Beisenbayeva A, Politi K, Perry RJ. Multimodal analysis suggests differential immuno-metabolic crosstalk in lung squamous cell carcinoma and adenocarcinoma. Npj Precision Oncology 2022, 6: 8. PMID: 35087143, PMCID: PMC8795406, DOI: 10.1038/s41698-021-00248-2.Peer-Reviewed Original ResearchNon-small cell lung cancerLung squamous cell carcinomaBody mass indexSquamous cell carcinomaLung adenocarcinomaHigher glucose uptakeVisceral adiposityVisceral fatCell carcinomaLung cancerGlucose uptakeTreatment of NSCLCHigher Body Mass IndexTumor-infiltrating T cellsImmune checkpoint inhibitionCell lung cancerHigh visceral fatPET/CT imagingTumors of patientsPrecision therapy approachesTumor glucose uptakePrecision medicine approachLUSC tumorsPrognostic gene expressionAdjunct therapyDonor genetic and non-genetic factors affecting red blood cell transfusion effectiveness
Roubinian NH, Reese SE, Qiao H, Plimier C, Fang F, Page GP, Cable RG, Custer B, Gladwin MT, Goel R, Harris B, Hendrickson JE, Kanias T, Kleinman S, Mast AE, Sloan SR, Spencer BR, Spitalnik SL, Busch MP, Hod EA. Donor genetic and non-genetic factors affecting red blood cell transfusion effectiveness. JCI Insight 2022, 7: e152598. PMID: 34793330, PMCID: PMC8765041, DOI: 10.1172/jci.insight.152598.Peer-Reviewed Original ResearchConceptsTransfusion effectivenessHemoglobin incrementsRBC transfusionG6PD deficiencyMulticenter retrospective studyRBC storage durationRBC unit transfusionPrecision medicine approachSubset of donorsTransfusion episodesTransfusion requirementsUnit transfusionRecipient factorsRetrospective studyRBC recipientsPatient outcomesRecipient characteristicsChild healthTransfusionVivo hemolysisTransfusion productsMedicine approachNon-genetic factorsOxidative hemolysisSingle nucleotide polymorphisms
2021
Cellular and Molecular Diversity in Scleroderma
Hinchcliff M, Garcia-Milian R, Di Donato S, Dill K, Bundschuh E, Galdo FD. Cellular and Molecular Diversity in Scleroderma. Seminars In Immunology 2021, 58: 101648. PMID: 35940960, DOI: 10.1016/j.smim.2022.101648.Peer-Reviewed Original ResearchConceptsSystemic sclerosisMedicine approachVariable clinical outcomesPrecision medicine approachPersonalized medicine approachClinical outcomesSame diagnosisDisease heterogeneityDisease riskCare promisesPatient heterogeneityRoutine integrationMolecular heterogeneityMolecular underpinningsSclerosisPatientsSclerodermaHistopathologyMolecular basisArmamentariumFindingsDiagnosisInterferon gamma runs interference on persistent COVID-19
Elliott EI, Wang A. Interferon gamma runs interference on persistent COVID-19. Med 2021, 2: 1111-1113. PMID: 34661183, PMCID: PMC8500527, DOI: 10.1016/j.medj.2021.09.004.Peer-Reviewed Original ResearchConceptsInterferon gammaCOVID-19Persistent COVID-19Specific viral variantsStage of illnessPrecision medicine approachSARS-CoV-2Disease endotypesViral variantsMedicine approachSa297 COMPLIANCE APPRAISAL OF A TAILORED PRECISION MEDICINE APPROACH IN A HIGH-RISK PANCREATIC CANCER SURVEILLANCE PROGRAM
Chhoda A, Merenda S, Farrell J. Sa297 COMPLIANCE APPRAISAL OF A TAILORED PRECISION MEDICINE APPROACH IN A HIGH-RISK PANCREATIC CANCER SURVEILLANCE PROGRAM. Gastroenterology 2021, 160: s-474-s-475. DOI: 10.1016/s0016-5085(21)01840-0.Peer-Reviewed Original ResearchRationale and design of the Kidney Precision Medicine Project
de Boer IH, Alpers CE, Azeloglu EU, Balis UGJ, Barasch JM, Barisoni L, Blank KN, Bomback AS, Brown K, Dagher PC, Dighe AL, Eadon MT, El-Achkar TM, Gaut JP, Hacohen N, He Y, Hodgin JB, Jain S, Kellum JA, Kiryluk K, Knight R, Laszik ZG, Lienczewski C, Mariani LH, McClelland RL, Menez S, Moledina DG, Mooney SD, O’Toole J, Palevsky PM, Parikh CR, Poggio ED, Rosas SE, Rosengart MR, Sarwal MM, Schaub JA, Sedor JR, Sharma K, Steck B, Toto RD, Troyanskaya OG, Tuttle KR, Vazquez MA, Waikar SS, Williams K, Wilson FP, Zhang K, Iyengar R, Kretzler M, Himmelfarb J, Project K, Knight R, Lecker S, Stillman I, Waikar S, Mcmahon G, Weins A, Short S, Hacohen N, Hoover P, Aulisio M, Cooperman L, Herlitz L, O’Toole J, Poggio E, Sedor J, Jolly S, Appelbaum P, Balderes O, Barasch J, Bomback A, Canetta P, d’Agati V, Kiryluk K, Kudose S, Mehl K, Radhakrishnan J, Weng C, Barisoni L, Alexandrov T, Ashkar T, Barwinska D, Dagher P, Dunn K, Eadon M, Ferkowicz M, Kelly K, Sutton T, Winfree S, Menez S, Parikh C, Rosenberg A, Villalobos P, Malik R, Fine D, Atta M, Trujillo J, Slack A, Rosas S, Williams M, Azeloglu E, He C, Iyengar R, Hansen J, Parikh S, Rovin B, Anderton C, Pasa-Tolic L, Velickovic D, Lukowski J, Oliver G, Ardayfio J, Bebiak J, Brown K, Campbell T, Campbell C, Hayashi L, Jefferson N, Koewler R, Roberts G, Saul J, Shpigel A, Stutzke E, Wright L, Miegs L, Pinkeney R, Sealfon R, Troyanskaya O, Tuttle K, Dobi D, Goltsev Y, Lake B, Zhang K, Joanes M, Laszik Z, Schroeder A, Sarwal M, Sigdel T, Balis U, Blanc V, He O, Hodgin J, Kretzler M, Mariani L, Menon R, Otto E, Schaub J, Steck B, Lienczewski C, Eddy S, Elder M, Hall D, Kellum J, Kruth M, Murugan R, Palevsky P, Randhawa P, Rosengart M, Sims-Lucas S, Stefanick M, Stull S, Tublin M, Alpers C, de Boer I, Dighe A, Himmelfarb J, Mcclelland R, Mooney S, Shankland S, Williams K, Blank K, Carson J, Dowd F, Drager Z, Park C, Sharma K, Zhang G, Bansal S, Venkatachalam M, Kermani A, Lee S, Lu C, Miller T, Moe O, Park H, Sambandam K, Sanchez F, Torrealba J, Robert T, Vazquez M, Wang N, Gaut J, Jain S, Vijayan A, Luciano R, Moledina D, Ugochukwu U, Wilson F, Alfano S. Rationale and design of the Kidney Precision Medicine Project. Kidney International 2021, 99: 498-510. PMID: 33637194, PMCID: PMC8330551, DOI: 10.1016/j.kint.2020.08.039.Peer-Reviewed Original ResearchConceptsAcute kidney injuryChronic kidney diseaseKidney Precision Medicine ProjectKidney biopsyKidney diseasePrecision Medicine ProjectKidney tissueMulticenter prospective cohort studyProtocol kidney biopsiesProspective cohort studyDeep clinical phenotypingPrecision medicine approachMedicine ProjectKidney injuryClinical characteristicsCohort studyClinical outcomesSubgroup analysisMorbid diseaseNovel therapiesPreventive strategiesClinical phenotypingDisease subgroupsToxic injuryPatients
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