2022
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Participants K, Köttgen A, Gall E, Halbritter J, Kiryluk K, Mallett A, Parekh R, Rasouly H, Sampson M, Tin A, Antignac C, Ars E, Bergmann C, Bleyer A, Bockenhauer D, Devuyst O, Florez J, Fowler K, Franceschini N, Fukagawa M, Gale D, Gbadegesin R, Goldstein D, Grams M, Greka A, Gross O, Guay-Woodford L, Harris P, Hoefele J, Hung A, Knoers N, Kopp J, Kretzler M, Lanktree M, Lipska-Ziętkiewicz B, Nicholls K, Nozu K, Ojo A, Parsa A, Pattaro C, Pei Y, Pollak M, Rhee E, Sanna-Cherchi S, Savige J, Sayer J, Scolari F, Sedor J, Sim X, Somlo S, Susztak K, Tayo B, Torra R, van Eerde A, Weinstock A, Winkler C, Wuttke M, Zhang H, King J, Cheung M, Jadoul M, Winkelmayer W, Gharavi A. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International 2022, 101: 1126-1141. PMID: 35460632, PMCID: PMC9922534, DOI: 10.1016/j.kint.2022.03.019.Peer-Reviewed Original ResearchConceptsUse of genomicsUse of geneticsGenetic findingsGenome variationNumerous genesMolecular dataGenetic dataComplex kidney diseaseGenetic variantsGeneticsGenesEnvironmental factorsPolygenic scoresMonogenic kidney diseaseGenomicsChronic kidney diseaseImproved diagnosticsInheritanceKidney diseaseData resourcesOpen data resourcesPhenotyping
2020
Advancing Nephrology: Division Leaders Advise ASN
Braden GL, Chapman A, Ellison DH, Gadegbeku CA, Gurley SB, Igarashi P, Kelepouris E, Moxey-Mims MM, Okusa MD, Plumb TJ, Quaggin SE, Salant DJ, Segal MS, Shankland SJ, Somlo S. Advancing Nephrology: Division Leaders Advise ASN. Clinical Journal Of The American Society Of Nephrology 2020, 16: 319-327. PMID: 32792352, PMCID: PMC7863658, DOI: 10.2215/cjn.01550220.Peer-Reviewed Original Research
2017
Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology
Gulati A, Somlo S. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatric Nephrology 2017, 33: 745-761. PMID: 28660367, DOI: 10.1007/s00467-017-3698-0.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingNew high-throughput sequencing techniquesHigh-throughput sequencing techniquesConventional genomic approachesNovel gene discoveryNext-generation sequencing technologiesNovel genetic findingsHuman reference genomeExome sequencingGenomic approachesGene discoveryReference genomeHuman genomeSequencing technologiesSequencing techniquesGenetic landscapeLinkage analysisGenomeBiological dataGenetic findingsSequencingPhenotypic misclassificationRecent studiesComprehensive genomic testingPowerful tool
2014
The Kidney Research National Dialogue: Gearing Up to Move Forward
Bonventre JV, Boulware LE, Dember LM, Freedman BI, Furth SL, Holzman LB, Ketchum CJ, Little MH, Mehrotra R, Moe SM, Sands JM, Sedor JR, Somlo S, Star RA, Rys-Sikora KE. The Kidney Research National Dialogue: Gearing Up to Move Forward. Clinical Journal Of The American Society Of Nephrology 2014, 9: 1806-1811. PMID: 25225184, PMCID: PMC4186514, DOI: 10.2215/cjn.07310714.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBiomedical ResearchCareer ChoiceCooperative BehaviorDiffusion of InnovationEducation, MedicalHealth PrioritiesHumansInterdisciplinary CommunicationInternational CooperationKidney DiseasesNational Institute of Diabetes and Digestive and Kidney Diseases (U.S.)NephrologyPrognosisRisk FactorsUnited StatesConceptsKidney Research National DialogueKidney functionKidney diseaseNational InstituteInterventional studyTreatment strategiesClinical investigationTrial designResponsive outcomesDiseaseNephrology workforceCommunity implementationDiabetesFoster translationDigestiveEntire seriesKidney biologyAdditional reviewKidney researchNational dialogueSeries of commentariesFuture research effortsDiagnosisDiscovery researchPreventionFilling the Holes in Cystic Kidney Disease Research
Guay-Woodford LM, Henske E, Igarashi P, Perrone RD, Reed-Gitomer B, Somlo S, Torres VE, Ketchum CJ, Star RA, Flessner MF, Rasooly RS. Filling the Holes in Cystic Kidney Disease Research. Clinical Journal Of The American Society Of Nephrology 2014, 9: 1799-1801. PMID: 24903391, PMCID: PMC4186512, DOI: 10.2215/cjn.03410414.Peer-Reviewed Original ResearchConceptsKidney diseaseCystic kidney diseaseKidney Research National DialoguePublic health problemKidney disease researchKidney functionDisease progressionCystic diseaseHealth problemsDiseaseCyst formationNational InstituteDisease researchVariable responseDiabetesPathogenesisDigestiveProgressionPrevention