Adjunct Faculty
Adjunct faculty typically have an academic or research appointment at another institution and contribute or collaborate with one or more School of Medicine faculty members or programs.
Adjunct rank detailsCurt Scharfe, MD, PhD, FACMG
Associate Professor Adjunct of GeneticsDownloadHi-Res Photo
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Titles
Associate Professor Adjunct of Genetics
Appointments
Genetics
Associate Professor AdjunctPrimary
Other Departments & Organizations
Education & Training
- Board Certification
- AB of Medical Genetics and Genomics, Clinical Molecular Genetics (2017)
- Fellow
- Clinical Molecular Genetics, Stanford University (2014)
- Postdoctoral Fellow
- Biochemistry, Stanford University (2005)
- Resident
- Pediatric Genetics, LMU, Munich (2000)
- PhD
- University of Wuerzburg (1998)
- MD
- University of Frankfurt (1996)
Research
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Overview
Medical Research Interests
Biotechnology; Cystic Fibrosis; DNA; DNA Virus Infections; Genetics, Population; Genomics; Heart Defects, Congenital; High-Throughput Nucleotide Sequencing; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Microarray Analysis; Mitochondrial Diseases; Molecular Diagnostic Techniques; Neonatal Screening; Prenatal Diagnosis; Proteomics
ORCID
0000-0001-6322-2039
Research at a Glance
Yale Co-Authors
Frequent collaborators of Curt Scharfe's published research.
Publications Timeline
A big-picture view of Curt Scharfe's research output by year.
Research Interests
Research topics Curt Scharfe is interested in exploring.
Kenneth Kidd, PhD
Hongyu Zhao, PhD
James Noonan, PhD
Antariksh Tyagi, PhD
Arya Mani, MD, FACC, FAHA
Renato Polimanti, PhD, MSc
68Publications
4,884Citations
Mitochondrial Diseases
Neonatal Screening
DNA
High-Throughput Nucleotide Sequencing
Genomics
Proteomics
Publications
2025
Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG)
Aggarwal V, Guha S, Lebo M, Retterer K, Scharfe C, Bean L, Committee A. Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine Open 2025, 3: 103433. PMID: 40747514, PMCID: PMC12310396, DOI: 10.1016/j.gimo.2025.103433.Peer-Reviewed Original ResearchAllele-specific electrical genotyping for diagnosis of transthyretin amyloidosis
Tayyab M, Gandotra N, Sui J, Scharfe C, Javanmard M. Allele-specific electrical genotyping for diagnosis of transthyretin amyloidosis. Communications Engineering 2025, 4: 47. PMID: 40082707, PMCID: PMC11906782, DOI: 10.1038/s44172-025-00385-7.Peer-Reviewed Original ResearchCitationsAltmetricConceptsAllele-specific polymerase chain reactionDNA input requirementsClinical genetic testingDNA variantsWest African ancestryVariant detectionOligonucleotide primersPCR productsGel electrophoresisVariant allelesAfrican ancestryGenetic testingDNA concentrationPolymerase chain reactionDNACongestive heart failureGenotypesChain reactionMicrofluidic impedance cytometryHereditary transthyretinTransthyretin amyloidosisHeart failureImpedance cytometryTransthyretinPrimersCFTR haplotype phasing using long-read genome sequencing from ultralow input DNA
Gandotra N, Tyagi A, Tikhonova I, Storer C, Scharfe C. CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA. Genetics In Medicine Open 2025, 3: 101962. PMID: 40027236, PMCID: PMC11869909, DOI: 10.1016/j.gimo.2025.101962.Peer-Reviewed Original ResearchCitationsConceptsLong-read genome sequencingSingle-nucleotide variantsHaplotype phasingGenome sequencePathogenic variantsSmall indelsShort-read genome sequencing dataDNA inputShort-read sequencingGenome sequence dataPoly-T tractRare pathogenic variantsGenetic disease screeningIdentified compound heterozygosityGenomic distanceLibrary preparationGenomic variantsAllelic phaseCystic fibrosis patientsSequence dataInput DNAGenotype concordanceGenomic DNAStructural variantsSingle-nucleotideP050: Integrating metabolic, genetic, and demographic data for enhanced newborn screening
Scharfe C, Xie Y, Peng G, Forero L, Enns G, Zhao H, Cowan T. P050: Integrating metabolic, genetic, and demographic data for enhanced newborn screening. Genetics In Medicine Open 2025, 3: 102894. DOI: 10.1016/j.gimo.2025.102894.Peer-Reviewed Original Research
2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Smith W, Berry S, Bloom K, Brown C, Burton B, Demarest O, Jenkins G, Malinowski J, McBride K, Mroczkowski H, Scharfe C, Vockley J, Board of Directors A. Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2024, 27: 101289. PMID: 39630157, DOI: 10.1016/j.gim.2024.101289.Peer-Reviewed Original ResearchCitationsAltmetricConceptsAmerican College of Medical Genetics and GenomicsRecent American College of Medical GeneticsPractice guidelinesEvidence-based clinical guidelinesEvidence-to-decision frameworkAmerican College of Medical GeneticsClinical practice guidelinesEvidence-based guidelinesPrevent pregnancy complicationsPhenylalanine hydroxylasePhenylalanine hydroxylase deficiencyIntellectual outcomeEvidence summaryStandard of careRecommendations AssessmentGuideline workgroupClinical guidelinesPregnancy complicationsSystematic reviewGenetic testingMedical GeneticsAmerican CollegeConfirm diagnosisPractice recommendationsPAH variantsAddendum: Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG)
Reddi H, Avenarius M, Bean L, Best H, Guha S, Kang B, Scharfe C, Seifert B, Wakeling E, Committee A. Addendum: Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2024, 26: 101100. DOI: 10.1016/j.gim.2024.101100.Peer-Reviewed Original Research
2023
Association of Maternal Age and Blood Markers for Metabolic Disease in Newborns
Xie Y, Peng G, Zhao H, Scharfe C. Association of Maternal Age and Blood Markers for Metabolic Disease in Newborns. Metabolites 2023, 14: 5. PMID: 38276295, PMCID: PMC10821442, DOI: 10.3390/metabo14010005.Peer-Reviewed Original ResearchCitationsAltmetricConceptsMaternal ageAdvanced maternal ageBlood metabolic markersMaternal age groupsInborn metabolic disordersNeonatal outcomesSingleton infantsGestational ageClinical variablesMarker levelsBirth weightBlood levelsBlood markersRisk factorsAge-related differencesInfant sexMetabolic disordersMetabolic markersPotential confoundingMetabolic diseasesScreening markerAge groupsBlood collectionScreening panelHigh false positive rateNBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
Chan K, Hu Z, Bush L, Cope H, Holm I, Kingsmore S, Wilhelm K, Scharfe C, Brower A. NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. International Journal Of Neonatal Screening 2023, 9: 63. PMID: 37987476, PMCID: PMC10660757, DOI: 10.3390/ijns9040063.Peer-Reviewed Original ResearchCitationsDigital assay for rapid electronic quantification of clinical pathogens using DNA nanoballs
Tayyab M, Barrett D, van Riel G, Liu S, Reinius B, Scharfe C, Griffin P, Steinmetz L, Javanmard M, Pelechano V. Digital assay for rapid electronic quantification of clinical pathogens using DNA nanoballs. Science Advances 2023, 9: eadi4997. PMID: 37672583, PMCID: PMC10482329, DOI: 10.1126/sciadv.adi4997.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsMicrofluidic impedance cytometerDNA nanoballsLabel-free assayColorimetric readoutImpedance cytometerDigital assaysLoop-mediated isothermal amplificationCapillary-driven flowNanoballsDNA detectionStandalone deviceDNA/RNAIsothermal amplificationCompact systemNucleic acidsClinical pathogensPathogen identificationAccurate detectionRapid testReadoutDetectionNovel methodImpedanceContributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Peña L, Burrage L, Enns G, Esplin E, Harding C, Mendell J, Niu Z, Scharfe C, Yu T, Koeberl D, Committee A. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2023, 25: 100831. PMID: 37031408, PMCID: PMC11040261, DOI: 10.1016/j.gim.2023.100831.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and Concepts
Academic Achievements & Community Involvement
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Honors
honor Connecticut Innovations Biopipeline program award
01/03/2020Regional AwardDetailsUnited Stateshonor Cystic Fibrosis Foundation (CFF) Research Grant
11/01/2017National AwardDetailsUnited Stateshonor Stanford Predictives and Diagnostics Accelerator (SPADA) Grant
01/01/2015Regional AwardDetailsUnited Stateshonor Stanford Cardiovascular Institute (CVI) Seed Grant
01/01/2014Regional AwardDetailsUnited Stateshonor Wilsey Family Fellow in Clinical Molecular Genetics
06/01/2012Regional AwardDetailsUnited States
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