Curt Scharfe, MD, PhD, FACMG
Associate Professor of GeneticsDownloadHi-Res Photo
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Genetics
Primary
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About
Titles
Associate Professor of Genetics
Appointments
Genetics
Associate Professor on TermPrimary
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)
Board Certifications
Clinical Molecular Genetics
- Certification Organization
- ABMGG
- Latest Certification Date
- 2024
- Original Certification Date
- 2017
Research
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
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Scharfe Lab
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
James Noonan, PhD
Arya Mani, MD, FACC, FAHA
Hongyu Zhao, PhD
Renato Polimanti, PhD, MSc
Sameet Mehta, PhD
64Publications
936Citations
Mitochondrial Diseases
Neonatal Screening
DNA
High-Throughput Nucleotide Sequencing
Genomics
Proteomics
Publications
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, 101289. PMID: 39630157, DOI: 10.1016/j.gim.2024.101289.Peer-Reviewed Original ResearchConceptsAmerican 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 ResearchConceptsMaternal 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 ResearchDigital 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 ResearchMeSH 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 ResearchMeSH Keywords and ConceptsNucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning
Kokabi M, Sui J, Gandotra N, Khamseh A, Scharfe C, Javanmard M. Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning. Biosensors 2023, 13: 316. PMID: 36979528, PMCID: PMC10046493, DOI: 10.3390/bios13030316.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsA systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension
Gunawardhana K, Hong L, Rugira T, Uebbing S, Kucharczak J, Mehta S, Karunamuni D, Cabera-Mendoza B, Gandotra N, Scharfe C, Polimanti R, Noonan J, Mani A. A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension. Journal Of Clinical Investigation 2023, 133: e160036. PMID: 36602864, PMCID: PMC9927944, DOI: 10.1172/jci160036.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsDevelopment of hypertensionParallel reporter assaysRenin inhibitor aliskirenNeural crest-derived cellsRenin-producing cellsSystems biology approachRNA-seq analysisCell-specific disruptionCrest-derived cellsSmooth muscle cellsMuscle cell proteinsSystemic hypertensionBlood pressureWT miceAntihypertensive drugsBiology approachSuper enhancersFine mappingWT littermatesThird intronMultiple GWASCollagen depositionMouse aortaReporter assaysFate mappingValidation of a targeted metabolomics panel for improved second‐tier newborn screening
Mak J, Peng G, Le A, Gandotra N, Enns G, Scharfe C, Cowan T. Validation of a targeted metabolomics panel for improved second‐tier newborn screening. Journal Of Inherited Metabolic Disease 2023, 46: 194-205. PMID: 36680545, PMCID: PMC10023470, DOI: 10.1002/jimd.12591.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsRecommended Uniform Screening PanelMethylmalonic acidemiaNewborn screeningOrnithine transcarbamylase deficiencySecond-tier assayDisease markersGlutaric acidemia type ILong-chain acyl-CoA dehydrogenase deficiencyScreen-positive casesUniform Screening PanelLong-chain acylcarnitinesSecond-tier testingFalse-positive casesSecond-tier testBlood spot samplesAcyl-CoA dehydrogenase deficiencyMetabolomics panelMetabolic disordersTargeted metabolomics analysisPositive casesMetabolite panelNBS programsDehydrogenase deficiencyLiquid chromatography-tandem mass spectrometryScreening panelP552: Improving DNA sequencing from dried blood spots for multi-tiered newborn screening
Gandotra N, Peng G, Tikhonova I, Storer C, Mak J, Wang G, Cowan T, Scharfe C. P552: Improving DNA sequencing from dried blood spots for multi-tiered newborn screening. Genetics In Medicine Open 2023, 1: 100599. DOI: 10.1016/j.gimo.2023.100599.Peer-Reviewed Original Research
Academic Achievements & Community Involvement
honor Connecticut Innovations Biopipeline program award
Regional AwardDetails01/03/2020United Stateshonor Cystic Fibrosis Foundation (CFF) Research Grant
National AwardDetails11/01/2017United Stateshonor Stanford Predictives and Diagnostics Accelerator (SPADA) Grant
Regional AwardDetails01/01/2015United Stateshonor Stanford Cardiovascular Institute (CVI) Seed Grant
Regional AwardDetails01/01/2014United Stateshonor Wilsey Family Fellow in Clinical Molecular Genetics
Regional AwardDetails06/01/2012United States
News & Links
Media
- Metabolite levels were analyzed in babies at different age at blood collection (AaBC) timepoints ranging from 12-72 hours after birth. Metabolites were found to group into two clusters of either decreasing (on top, blue) or increasing (at bottom, red) levels after birth. Timing of blood collection could affect the performance of newborn screening for metabolic disorders (Peng G et al. Front Pediatr. 2021).
News
- October 17, 2022Source: Yale News
Metabolism, not genes, may offer more insight into risk of some diseases
- February 25, 2021
Strategies to accelerate diagnosis and treatment of rare cardiovascular diseases
- April 07, 2020
Insights & Outcomes: Cardiac lag times and chemistry that’s off the scale
- March 17, 2020Source: Validation of novel forensic DNA markers using multiplex microhaplotype sequencing
Validation of novel forensic DNA markers using multiplex microhaplotype sequencing