Publication:
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

Simple item page
dc.contributor.authorPoli Harlowe, María Cecilia
dc.contributor.authorRebolledo Jaramillo, Boris
dc.contributor.authorLagos, Catalina
dc.contributor.authorOrellana, Joan
dc.contributor.authorMoreno, Gabriela
dc.contributor.authorMartín, Luz M.
dc.contributor.authorEncina, Gonzalo
dc.contributor.authorBöhme, Daniela
dc.contributor.authorFaundes, Víctor
dc.contributor.authorZavala, M. Jesús
dc.contributor.authorHasbún, María Trinidad
dc.contributor.authorFischer, Sara
dc.contributor.authorBrito, Florencia
dc.contributor.authorAraya, Diego
dc.contributor.authorLira, Manuel
dc.contributor.authorCruz, Javiera de la
dc.contributor.authorAstudillo, Camila
dc.contributor.authorLay-Son, Guillermo
dc.contributor.authorCares, Carolina
dc.contributor.authorAracena, Mariana
dc.contributor.authorSan Martín, Esteban
dc.contributor.authorCoban-Akdemir, Zeynep
dc.contributor.authorPosey, Jennifer E.
dc.contributor.authorLupski, James R.
dc.contributor.authorRepetto, Gabriela
dc.date.accessioned2024-01-09T16:34:51Z
dc.date.available2024-01-09T16:34:51Z
dc.date.issued2024
dc.description.abstractRare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the “diagnostic odyssey” for patients. To advance genomic diagnoses in a setting of limited genomic resources, we developed DECIPHERD, an undiagnosed diseases program in Chile. DECIPHERD was implemented in two phases: training and local development. The training phase relied on international collaboration with Baylor College of Medicine, and the local development was structured as a hybrid model, where clinical and bioinformatics analysis were performed in-house and sequencing outsourced abroad, due to lack of high-throughput equipment in Chile. We describe the implementation process and findings of the first 103 patients. They had heterogeneous phenotypes, including congenital anomalies, intellectual disabilities and/or immune system dysfunction. Patients underwent clinical exome or research exome sequencing, as solo cases or with parents using a trio design. We identified pathogenic, likely pathogenic or variants of unknown significance in genes related to the patients´ phenotypes in 47 (45.6%) of them. Half were de novo informative variants, and half of the identified variants have not been previously reported in public databases. DECIPHERD ended the diagnostic odyssey for many participants. This hybrid strategy may be useful for settings of similarly limited genomic resources and lead to discoveries in understudied populations.
dc.description.versionVersión publicada
dc.format.extent11 p.
dc.identifier.citationPoli, M.C., Rebolledo-Jaramillo, B., Lagos, C. et al. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-023-01523-5
dc.identifier.doihttps://doi.org/10.1038/s41431-023-01523-5
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/8320
dc.language.isoen
dc.subjectUndiagnosed diseases
dc.subjectChile
dc.titleDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
dc.typeArticle
dcterms.accessRightsAcceso abierto
dcterms.sourceEuropean Journal of Human Genetics
dspace.entity.typePublication
relation.isAuthorOfPublicationbf711dbf-cd6f-4a66-97fb-64c15f664de3
relation.isAuthorOfPublicationd7bb0aa6-f457-4d89-a2e7-7fcd2895cdaf
relation.isAuthorOfPublicationfa56da00-172e-4948-abee-937effdc838e
relation.isAuthorOfPublication130e5d1d-fc50-489e-a30e-0683ee47e415
relation.isAuthorOfPublication98c75303-d87e-4c17-9d27-d9d710229223
relation.isAuthorOfPublication.latestForDiscoverybf711dbf-cd6f-4a66-97fb-64c15f664de3

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
s41431-023-01523-5.pdf
Size:
806.76 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.63 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Artículos Medicina y Ciencias de la Salud

Implementado por OpenGeek Services