{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wangler MF"],"funding":["NICHD NIH HHS","NHGRI NIH HHS","NINDS NIH HHS","NIGMS NIH HHS","NIH HHS"],"pagination":["9-27"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5586389"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["207(1)"],"pubmed_abstract":["Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions. Here, we review the current state of research into undiagnosed diseases, highlighting large efforts in North America and internationally, including the Undiagnosed Di"],"journal":["Genetics"],"pubmed_title":["Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research."],"pmcid":["PMC5586389"],"funding_grant_id":["R21 GM114438","P01 HD022486","U01 HG007943","K12 NS098482","R01 HG011795","R24 OD022005","K08 HG008986","U54 NS093793","R01 GM067858"],"pubmed_authors":["Hieter P","Campeau PM","Wangler MF","Posey JE","Members of the Undiagnosed Diseases Network (UDN)","Yamamoto S","Chao HT","Westerfield M","Postlethwait J","Boycott KM","Bellen HJ"],"additional_accession":[]},"is_claimable":false,"name":"Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.","description":"Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions. Here, we review the current state of research into undiagnosed diseases, highlighting large efforts in North America and internationally, including the Undiagnosed Di","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Sep","modification":"2026-05-05T03:29:32.417Z","creation":"2026-04-07T21:23:27.173Z"},"accession":"S-EPMC5586389","cross_references":{"pubmed":["28874452"],"doi":["10.1534/genetics.117.203067"]}}