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Discriminating Pathogenic from Benign Alleles of Myelodysplastic Syndrome Predisposition Genes
Organization UNIVERSITY OF WISCONSIN-MADISONLocation MADISON, UNITED STATESPosted 20 May 2024Deadline 31 Mar 2026 ⚠️
NIHUS FederalResearch GrantFY2025AML - Acute Myeloid LeukemiaAcute Myeloblastic LeukemiaAcute Myelocytic LeukemiaAcute Myelogenous LeukemiaAffectAllelesAllelomorphsAlternate SplicingAlternative RNA SplicingAlternative SplicingBenignBiochemicalBiologicalBiological FunctionBiological ProcessBiologyBlood Precursor CellBone marrow failureCell BodyCellsClassificationClinicalClinical DataClinical geneticsClk kinaseDNA AlterationDNA Sequence AlterationDisparateDouble-Stranded DNADysfunctionDysmyelopoietic SyndromesErythroidErythroid CellsErythroid Precursor CellsErythroid Progenitor CellsErythroid Stem CellsErythropoietic Progenitor CellsErythropoietic Stem CellsFlow CytofluorometriesFlow CytofluorometryFlow CytometryFlow MicrofluorimetryFlow MicrofluorometryFoundationsFunctional RNAFunctional disorderFutureGene variantGeneticGenetic AlterationGenetic DiversityGenetic VariationGenome engineeringGenomic approachGerm LinesHematologyHematopoietic Progenitor CellsHematopoietic stem cellsHumanImmunologyInnate ImmunityIntervening SequencesIntronsInvestigationIsoformsKinasesLinkLogicLogistic RegressionsMachine LearningMedical GeneticsMembrane Protein GeneMembrane ProteinsMembrane-Associated ProteinsMessenger RNAMiceMice MammalsModelingModern ManMolecularMurineMusMyelodysplastic DiseaseMyelodysplastic SyndromesMyelogenousMyeloidMyeloid CellsMyeloid ProgenitorMyeloid Progenitor CellsMyeloid Stem CellsNative ImmunityNatural ImmunityNon-Polyadenylated RNANon-Specific ImmunityNoncoding RNANonspecific ImmunityNontranslated RNAPathogenicityPathologicPathway interactionsPatientsPeptide DomainPhenotypePhosphorylationPhosphotransferase GenePhosphotransferasesPhysiologicPhysiologicalPhysiopathologyPredispositionPredisposition geneProtein DomainsProtein IsoformsProtein PhosphorylationProteinsProteomicsRNARNA Gene ProductsRNA HelicaseRNA SeqRNA SplicingRNA sequencingRNAseqRefractory Anemia with an Excess of BlastsRefractory anaemia with excess blastsRibonucleic AcidSTY kinaseSequence AlterationSignal PathwaySmoldering LeukemiaSplicingStimulator of Interferon GenesSurface ProteinsSusceptibilitySusceptibility GeneSystemSystematicsTertiary Protein StructureTestingTranscriptTransphosphorylasesUntranslated RNAVariantVariationacute granulocytic leukemiaacute myeloid leukemiaallelic variantbiologicblood cell progenitorblood progenitorblood stem cellblood-forming stem cellcGAMP STINGcGAMP-STINGcGAMP/STINGcGAS/STINGcell typecyclic GMP-AMP synthase/STINGdata to traindataset to traindisease causing variantdisease-causing alleledisease-causing mutationds-DNAdsDNAerythroid progenitorerythroid-committed progenitorsflow cytophotometrygenetic variantgenome sequencinggenomic alterationgenomic effortgenomic strategygenomic varianthematopoietic progenitorhematopoietic stem progenitor cellhemopoietic progenitorhemopoietic stem cellinnovateinnovationinnovativeinsightloss of functionmRNAmachine based learningmyelodysplasiamyeloid precursormyeloid stem and progenitor cellnoncodingnovelpathogenic allelepathogenic variantpathophysiologypathwaypredisposing geneprogenitorsusceptibility allelesusceptibility locussusceptibility varianttraining datatranscriptome sequencingtranscriptomic sequencingtranscriptomicstranslational geneticsunclassified variantvariant of uncertain clinical significancevariant of uncertain significancevariant of undetermined significancevariant of unknown significance
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Description preview
Patient genome sequencing has revealed germline genetic variation in DDX41 as one of the most frequent
genomic alterations implicated in creating a predisposition to myelodysplastic syndrome (MDS) and acute
myeloid leukemia (AML). DDX41 encodes an RNA helicase that regulates RNA splicing, senses double-stranded
DNA, operates in the cGAS-Sting…
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