Odelya Hartung Kaufman, MD, PhD
Associate Research Scientist in GeneticsCards
About
Research
Publications
2024
Rbpms2 promotes female fate upstream of the nutrient sensing Gator2 complex component Mios
Wilson M, Romano S, Khatri N, Aharon D, Liu Y, Kaufman O, Draper B, Marlow F. Rbpms2 promotes female fate upstream of the nutrient sensing Gator2 complex component Mios. Nature Communications 2024, 15: 5248. PMID: 38898112, PMCID: PMC11187175, DOI: 10.1038/s41467-024-49613-2.Peer-Reviewed Original ResearchConceptsRibosome biogenesis factorsRNA-binding proteinsMTORC1 signaling pathwayBipotential stateBiogenesis factorsGAP activityFemale fateTranslational regulationReproductive successGenetic analysisFate switchZebrafish oogenesisBinding proteinSignaling pathwayRBPMS2Oocyte progressionRAG-2Oocyte factorsZebrafishPrimary gonadsDifferentiation factorPathwayFateRNAbpsRibosomeShwachman–Diamond syndrome mimicking mitochondrial hepatopathy
Kaufman O, Donnelly C, Cork E, Fiel M, Chu J, Ganesh J. Shwachman–Diamond syndrome mimicking mitochondrial hepatopathy. JPGN Reports 2024, 5: 213-217. PMID: 38756125, PMCID: PMC11093899, DOI: 10.1002/jpr3.12064.Peer-Reviewed Original ResearchShwachman-Bodian-Diamond syndromeMaintenance of mitochondrial DNARegulation of mitochondrial functionShwachman-Diamond syndromeMitochondrial DNAMitochondrial phenotypeMitochondrial diseaseMitochondrial hepatopathySmall mitochondriaMitochondrial functionShwachman-Diamond syndrome patientsGenetic disordersInborn errors of metabolismErrors of metabolismMolecular research studiesInborn errorsMitochondriaDNAMutationsElectron micrographsPhenotype
2023
P207: A novel case of a female carrier of a fragile X full expansion with methylation on the normal allele
Kaufman O, Woroch A, Dincer A, Schadt E, Lozano R. P207: A novel case of a female carrier of a fragile X full expansion with methylation on the normal allele. Genetics In Medicine Open 2023, 1: 100235. DOI: 10.1016/j.gimo.2023.100235.Peer-Reviewed Original Research
2021
A transgenic system for targeted ablation of reproductive and maternal-effect genes
Bertho S, Kaufman O, Lee K, Santos-Ledo A, Dellal D, Marlow F. A transgenic system for targeted ablation of reproductive and maternal-effect genes. Development 2021, 148 PMID: 34143203, PMCID: PMC8254866, DOI: 10.1242/dev.198010.Peer-Reviewed Original ResearchConceptsMaternal-effect genesForward genetic screensReverse genetics systemEmbryonic developmentRegulation of embryonic developmentTransgenic systemZygotic functionGenetic systemGenetic screeningGene productsMolecular regulationGenesEarly embryosDevelopmental processesNormal embryogenesisLate functionMolecular pathwaysBucky ballEmbryosMutagenesis
2020
Loss of dmrt1 restores zebrafish female fates in the absence of cyp19a1a but not rbpms2a/b
Romano S, Kaufman O, Marlow F. Loss of dmrt1 restores zebrafish female fates in the absence of cyp19a1a but not rbpms2a/b. Development 2020, 147: dev190942. PMID: 32895289, PMCID: PMC7541348, DOI: 10.1242/dev.190942.Peer-Reviewed Original ResearchConceptsSex-specific differentiationFemale fateSex determinationLoss of DMRT1Genetic epistasis experimentsEpistasis experimentsAdult gonadsGenetic hierarchyFate specificationFemale differentiationGenetic evidenceDMRT1Fate acquisitionSomatic tissuesAdult sexMutantsCyp19a1aRepressionRBPMS2DifferentiationFateOocyte maturationGermlineOvaryZebrafish
2018
Correction: rbpms2 functions in Balbiani body architecture and ovary fate
Kaufman O, Lee K, Martin M, Rothhämel S, Marlow F. Correction: rbpms2 functions in Balbiani body architecture and ovary fate. PLOS Genetics 2018, 14: e1007768. PMID: 30376569, PMCID: PMC6207295, DOI: 10.1371/journal.pgen.1007768.Peer-Reviewed Original Researchrbpms2 functions in Balbiani body architecture and ovary fate
Kaufman O, Lee K, Martin M, Rothhämel S, Marlow F. rbpms2 functions in Balbiani body architecture and ovary fate. PLOS Genetics 2018, 14: e1007489. PMID: 29975683, PMCID: PMC6049948, DOI: 10.1371/journal.pgen.1007489.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, Genetically ModifiedCell PolarityCytoplasmEmbryo, NonmammalianFemaleGene Expression Regulation, DevelopmentalGerm CellsMaleMitochondriaMutagenesis, Site-DirectedOocytesOogenesisOvaryRNA-Binding ProteinsSex DifferentiationTumor Suppressor Protein p53ZebrafishZebrafish ProteinsConceptsRNA-binding proteinsPrimordial germ cellsGerm cellsIntact RNA binding domainLocalized to subcellular compartmentsRNA-binding domainGerm granulesProtein domainsElectron-dense cytoplasmic inclusionsMutations of TP53Accumulation of mitochondriaPromote oogenesisRibonucleoprotein granulesSubcellular compartmentsBinding domainAsymmetric accumulationDevelopmental regulationFertile malesBalbiani bodyOocyte differentiationMutantsBlastula cellsSexual differentiationSomatic cellsBody architecture
2016
Chapter 1 Methods to study maternal regulation of germ cell specification in zebrafish
Kaufman O, Marlow F. Chapter 1 Methods to study maternal regulation of germ cell specification in zebrafish. Methods In Cell Biology 2016, 134: 1-32. PMID: 27312489, PMCID: PMC5039941, DOI: 10.1016/bs.mcb.2016.02.001.Peer-Reviewed Original ResearchConceptsGerm cell specificationGerm cell formationCell-specificGerm lineControl of maternal gene productsProcess of germ cell specificationMaternal gene productsGerm cell regulationGerm cell developmentLoss-of-function studiesZebrafish genomeManipulating genomesGenetic tractabilityGenetic regulationGenetic screeningGene productsCell formationMolecular biology techniquesExpression analysisCell developmentMolecular regulationCell regulationEarly embryosIn situ hybridizationGenetic models
Clinical Care
Overview
Odelya Kaufman, MD, PhD, is a clinical geneticist specializing in the diagnosis and management of genetic conditions in both children and adults. Her expertise encompasses a wide range of genetic disorders, including developmental disabilities, autism spectrum disorder, craniofacial anomalies, inherited eye disorders, hearing loss, and congenital birth defects.
Dr. Kaufman was drawn to the field of medical genetics because of its position at the cutting edge of scientific and technological advancements, offering hope to individuals with rare genetic conditions. She is deeply committed to guiding families through the diagnostic journey, helping them navigate complex genetic conditions with clarity and compassion.
In addition to her clinical practice, Dr. Kaufman is an associate research scientist in the Department of Genetics at Yale School of Medicine. Her research focuses on uncovering the genetic mechanisms underlying early embryonic defects and their link to human infertility, including unexplained female infertility and recurrent pregnancy loss. She is also a key member of the Yale team leading national research initiatives through the Undiagnosed Disease Network, working to identify the genetic causes of rare and undiagnosed diseases.
Dr. Kaufman earned both her medical and doctoral degrees from Albert Einstein College of Medicine, where her research focused on the roles of RNA binding proteins in ovary development. She then completed her residency in pediatrics and medical genetics at Mount Sinai Hospital, where she also investigated the genetic causes of critical illnesses in infants.
Clinical Specialties
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25 York Street
New Haven, CT 06511
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