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Research
Publications
2026
Postmortem Associations Between Alzheimer Disease Pathology and Plasma pTau217, GFAP, and NfL in AD and AD-Related Dementias
Kivisäkk P, Fatima H, Wu C, Padmanabhan N, Romero D, Gorham T, Weik M, Dodge H, Scherzer C, Das S, Chibnik L, Blacker D, Gomez-Isla T, Oakley D, Frosch M, Hyman B, Demos C, Sigal G, Wohlstadter J, Serrano-Pozo A, Arnold S. Postmortem Associations Between Alzheimer Disease Pathology and Plasma pTau217, GFAP, and NfL in AD and AD-Related Dementias. Neurology 2026, 106: e214351. PMID: 41610380, PMCID: PMC12857747, DOI: 10.1212/wnl.0000000000214351.Peer-Reviewed Original ResearchConceptsMassachusetts Alzheimer's Disease Research CenterGlial fibrillary acidic proteinNon-AD dementiaAD neuropathologic changeAlzheimer's Disease Research CenterBrain autopsyCross-sectional associationsYears of follow-upGlial fibrillary acidic protein levelsAlzheimer's diseaseBanked plasma samplesFibrillary acidic proteinLinear regression modelsAD-related dementiaCohort studyMeso Scale DiscoveryNormal cognitionFollow-upGroups of participantsDementiaNeurological diagnosisAlzheimer's disease pathologyBiomarker levelsADRDTDP-43 proteinopathy
2025
Phosphorylated Ubiquitin as a Clinical Biomarker for Mitochondrial Damage in Neurodegenerative Diseases.
Fiesel F, Watzlawik J, Heckman M, Blumenfeld S, Rigby M, Kehili M, Lohmann K, Klein C, Narendra D, Scherzer C, Ertekin-Taner N, Graff-Radford N, Wszolek Z, Ross O, Springer W. Phosphorylated Ubiquitin as a Clinical Biomarker for Mitochondrial Damage in Neurodegenerative Diseases. Aging And Disease 2025 PMID: 41400571, DOI: 10.14336/ad.2025.1220.Peer-Reviewed Original ResearchPhosphorylated ubiquitinAssociated with disease statusAutophagy-lysosome systemPINK1-ParkinDamaged mitochondriaHuman autopsy brainsMitochondrial damageAlzheimer's diseaseNeurodegenerative diseasesLysosomal dysfunctionUbiquitinCase-control seriesDiscovery platformSpectrum of mild cognitive impairmentMesoScale discovery platformParkinson's diseasePotential resilience factorsClinical biomarkersAlzheimerDisease riskAutopsy brainsNeurologically normal controlsDiagnostic markerMild cognitive impairmentMitophagyAssociation of Medication Use and 8-Year Mortality Risk in Patients With Parkinson Disease
Tuominen J, Riise T, Romanowska J, Flores-Torres M, Cortese M, Scherzer C, Bjornevik K, Igland J. Association of Medication Use and 8-Year Mortality Risk in Patients With Parkinson Disease. Neurology 2025, 105: e213783. PMID: 40644656, PMCID: PMC12264975, DOI: 10.1212/wnl.0000000000213783.Peer-Reviewed Original ResearchConceptsMortality riskInverse probabilityLevel 1 groupTarget trial designIntention-to-treat effectRisk of deathObservational cohort studyHealth registriesInverse probability of treatment weightingProbability of treatment weightingHistamine-2 blockersPotential confoundersCohort studyObservational analogsProgression of Parkinson's diseasePrescription drugsTrial designTreatment weightingTarget trialsParkinson's diseaseClinical trialsNonsteroidal anti-inflammatory drugsSleep aidsTargeted drugsOpioid analgesicsGenetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease
Liao Y, Wu H, Wang J, Corvol J, Maple‐Grødem J, Campbell M, Elbaz A, Brice A, Schwarzschild M, Taba P, Kõks S, Beach T, Alves G, Tysnes O, Perlmutter J, Maiti B, van Hilten J, Barker R, Williams‐Gray C, Scherzer C, Liu G, Consortium I. Genetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease. Movement Disorders 2025, 40: 1908-1918. PMID: 40459076, PMCID: PMC12353966, DOI: 10.1002/mds.30252.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociHoehn and Yahr stage 3Cognitive declineMotor impairmentGenetic colocalization analysisGenome-wide significanceX chromosome variantsP-valueQuantitative trait lociYahr stage 3Associated with cognitive declineMale-only analysisAssociation lociLongitudinal cognitive declineTrait lociX chromosomeLewy body dementiaGenetic analysisGenetic variantsGenetic underpinningsColocalization analysisGlobal cognitive impairmentParkinson's diseaseLociMotor progressionImpact of Y chromosome loss on the risk of Parkinson's disease and progression
Wang J, Chen X, Du W, Lin C, Liao Y, Corvol J, Maple-Grødem J, Campbell M, Elbaz A, Lesage S, Brice A, Schwarzschild M, Taba P, Kõks S, Alves G, Tysnes O, Perlmutter J, Maiti B, van Hilten J, Barker R, Williams-Gray C, Scherzer C, Liu G, Consortium I, Liu G, Valentino R, Liao Z, Locascio J, Corvol J, Dong X, Maple-Grødem J, Campbell M, Elbaz A, Lesage S, Brice A, Mangone G, Growdon J, Hung A, Schwarzchild M, Hayes M, Wills A, Herrington T, Ravian B, Shoulson I, Taba P, Kõks S, Beach T, Cormier-Dequaire F, Alves G, Tysnes O, Perlmutter J, Heutink P, van Hilten J, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker R, Williams-Gray C, Marinus J, Scherzer C. Impact of Y chromosome loss on the risk of Parkinson's disease and progression. EBioMedicine 2025, 117: 105769. PMID: 40446401, PMCID: PMC12159889, DOI: 10.1016/j.ebiom.2025.105769.Peer-Reviewed Original ResearchConceptsLoss of Y chromosomeSingle-nucleusWhole-genome sequencing dataGenome sequence dataDynamic gene expression analysisGenome-wide arraySingle-nucleus RNA sequencingY chromosome lossGene expression analysisChip genotypesAge-related somatic mutationSequence dataY chromosomeSingle-nucleus transcriptomesSnRNA-seqMale participantsRNA sequencingExpression analysisProgression of Parkinson's diseaseSomatic mutationsAge-related diseasesMagnetic resonance imagingNIHR Cambridge Biomedical Research CentreProgression of PDClinical phenotypeAn integrative systems-biology approach defines mechanisms of Alzheimer’s disease neurodegeneration
Leventhal M, Zanella C, Kang B, Peng J, Gritsch D, Liao Z, Bukhari H, Wang T, Pao P, Danquah S, Benetatos J, Nehme R, Farhi S, Tsai L, Dong X, Scherzer C, Feany M, Fraenkel E. An integrative systems-biology approach defines mechanisms of Alzheimer’s disease neurodegeneration. Nature Communications 2025, 16: 4441. PMID: 40393985, PMCID: PMC12092734, DOI: 10.1038/s41467-025-59654-w.Peer-Reviewed Original ResearchConceptsDisease proteomicsDrosophila model of Alzheimer's diseaseAlzheimer's diseaseDisease neurodegenerationSystems-biology approachAlzheimer's disease neurodegenerationModel of Alzheimer's diseaseModify gene expressionAge-associated neurodegenerationDrosophila modelTau proteinGenetic screeningGenetic variantsGene expressionRelevant pathwaysDNA damageAmeliorate neurodegenerationDrosophilaYears of intensive investigationNeural progenitor cellsProteomicsNeurodegenerationNeuronal deathAlzheimerProgenitor cells
2024
Investigation of the genetic aetiology of Lewy body diseases with and without dementia
Wu L, Real R, Martinez-Carrasco A, Chia R, Lawton M, Shoai M, Bresner C, Blauwendraat C, Singleton A, Ryten M, Abramzon Y, Ahmed S, Alba C, Albert M, Bacikova D, Barrett M, Beach T, Bennett D, Besser L, Bigio E, Boeve B, Bohannan R, Caraway C, Palma J, Chia R, Dalgard C, Dickson D, Ding J, Faber K, Ferman T, Ferrucci L, Flanagan M, Foroud T, Ghetti B, Gibbs J, Goate A, Goldstein D, Graff-Radford N, Hu H, Hupalo D, Kaiser S, Kaufmann H, Kim R, Klein G, Kukull W, Kuzma A, Leverenz J, Lopez G, Mao Q, Martinez-McGrath E, Masliah E, Monuki E, Newell K, Norcliffe-Kaufmann L, Perkins M, Pletnikova O, Renton A, Resnick S, Ross O, Sabir M, Scherzer C, Scholz S, Serrano G, Shakkotai V, Sidransky E, Singleton A, Tanaka T, Tayebi N, Traynor B, Troncoso J, Viollet C, Walton R, Woltjer R, Wszolek Z, Black S, Gan-Or Z, Keith J, Masellis M, Rogaeva E, Aarsland D, Al-Sarraj S, Attems J, Ferrari R, Gentleman S, Hardy J, Hodges A, Love S, McKeith I, Morris C, Morris H, Palmer L, Pickering-Brown S, Reynolds R, Ryten M, Thomas A, Tilley B, Troakes C, Brett F, Brice A, Duyckaerts C, Lesage S, Brunetti M, Calvo A, Canosa A, Chiò A, Floris G, Logroscino G, Zecca C, Clarimon J, Diez-Fairen M, Fortea J, González-Aramburu I, Infante J, Lage C, Lleó A, Pastor P, Porcel-Molina L, Rodríguez-Rodríguez E, Sanchez-Juan P, Krüger R, May P, Xiromerisiou G, Scholz S, Traynor B, Williams N, Hu M, Ben-Shlomo Y, Grosset D, Hardy J, Morris H. Investigation of the genetic aetiology of Lewy body diseases with and without dementia. Brain Communications 2024, 6: fcae190. PMID: 38978726, PMCID: PMC11228432, DOI: 10.1093/braincomms/fcae190.Peer-Reviewed Original ResearchGenome-wide association studiesParkinson's disease dementiaPhenotypic genome-wide association studiesAssociation studiesAccelerating Medicines Partnership - Parkinson’s disease initiativeLewy bodies/Parkinson's disease dementiaGenetic driversGenetic aetiologyDevelopment of dementiaLewy body diseasePatients of European ancestryRisk lociMotor symptom onsetEuropean ancestryDementiaBody diseaseMotor onsetDisease heterogeneityDisease pathwaysCognitive impairmentLewy bodiesSymptom onsetDisease initiationParkinson's disease patientsBiological mechanismsDisease progression strikingly differs in research and real-world Parkinson’s populations
Beaulieu-Jones B, Frau F, Bozzi S, Chandross K, Peterschmitt M, Cohen C, Coulovrat C, Kumar D, Kruger M, Lipnick S, Fitzsimmons L, Kohane I, Scherzer C. Disease progression strikingly differs in research and real-world Parkinson’s populations. Npj Parkinson's Disease 2024, 10: 58. PMID: 38480700, PMCID: PMC10937726, DOI: 10.1038/s41531-024-00667-5.Peer-Reviewed Original ResearchNatural language processingLanguage modelLanguage processingGranular comparisonElectronic health record dataReal-world dataAvailability of real-world dataDownstream tasksHealth record dataAcademic hospital systemCharacterization of Parkinson's diseaseMass General BrighamReal worldData sourcesFox InsightHealth recordsMultiple data sourcesCombination of selection biasBiomarkers Cohort StudyResearch populationHospital systemIn-personParkinson's populationCohort studyRecord dataVenglustat in GBA1-related Parkinson's disease – Authors' reply
Sardi S, authors M, Giladi N, Alcalay R, Cuer G, Gasser T, Gurevich T, Höglinger G, Marek K, PaccheE C, Schapira A, Scherzer C, Simuni T, Minini P, Peterschmi M. Venglustat in GBA1-related Parkinson's disease – Authors' reply. The Lancet Neurology 2024, 23: 137-138. PMID: 38267178, DOI: 10.1016/s1474-4422(23)00470-2.Peer-Reviewed Original ResearchConceptsAuthor replies
2023
Utilizing low‐volume PBMC samples from Alzheimer’s disease clinical research cohorts for immune cell RNA‐sequencing
Viera A, Bellier J, Runnels A, Touil H, Fitzpatrick C, Tuncali I, Greco G, Liu L, Chhatwal J, Johnson K, Scherzer C, Selkoe D, De Jager P, Sperling R, Yang H. Utilizing low‐volume PBMC samples from Alzheimer’s disease clinical research cohorts for immune cell RNA‐sequencing. Alzheimer's & Dementia 2023, 19 DOI: 10.1002/alz.082614.Peer-Reviewed Original ResearchPeripheral blood mononuclear cellsCell preparation tubesPeripheral immune systemT cellsPBMC samplesCD20+ B cellsCD8+ T cellsCD4+ T cellsPeripheral blood mononuclear cell samplesImmune systemPeripheral blood mononuclear cell collectionCD14+ monocytesBlood mononuclear cellsCD20 antibodyAnti-CD4B cellsRNeasy Micro KitMononuclear cellsFlow cytometryCell RNA sequencingPreparation tubesCell-type-specific proteomicsBlood samplesRNA sequencingCell number
Academic Achievements & Community Involvement
News
News
- November 12, 2025Source: American Parkinson Disease Association
Precision Medicine for Parkinson’s Disease: Inside Yale University’s APDA Research
- November 21, 2024
Three Yale School of Medicine-led Teams Awarded $18 Million to Advance Parkinson’s Disease Research
- November 07, 2024Source: For Humanity: The Yale Campaign
Stopping Parkinson’s—Even Before It Starts
- October 14, 2024
Precision Medicine for Parkinson’s: New Yale Center for Advanced Research
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Everyone Erin Longbrake, MD, PhD - Peter Arnett - John DeLuca - Lindsay McAlpine, MD, BSc - Clemens Scherzer, MD - Sule Tinaz, MD, PhD - Alec Neale, PhD - Vidyulata Kamath - Noah Silverberg - Stephanie Schmidt, MD - Haley Chizuk - Lyla Wadia - Ronald M Lazar - Rebecca Marie DiBiase, MD, MPH - Shana Harris - Adam M BrickmanA zoom link will be provided when you register.