REBOLLEDO JARAMILLO, BORIS EDUARDO
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REBOLLEDO JARAMILLO, BORIS EDUARDO
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brebolledo@udd.cl
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55926164500

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IMMUNE CELL PROFILING OF WOUNDS FROM EPIDERMOLYSIS BULLOSA PATIENTS

2020 , YUBERO GONCALVEZ, MARIA JOAO , FUENTES BUSTOS, MARIA IGNACIA , PALISSON ETCHARREN, FRANCIS , REBOLLEDO JARAMILLO, BORIS EDUARDO , Guttmann-Gruber, Christina , Tockner, Birgit , Anja Diem , Klausegger, Alfred , Cofre-Araneda, Glenda , Figuera, Olga , Hidalgo, Yessia , Morande, Pilar , Cho, Raymond J. , Rishel, Heather I , Marinkovich, M. Peter , Teng, Joyce , Webster, Timothy G. , Prisco, Marco , Eraso, Luis H. , Hofbauer, Josefina Pinon , South, Andrew P.

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Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa

2020 , FUENTES BUSTOS, MARIA IGNACIA , Christina Guttmann-Gruber , Birgit Tockner , Anja Diem , Alfred Klausegger , Glenda Cofré-Araneda , Olga Figuera , Yessia Hidalgo , Pilar Morandé , PALISSON ETCHARREN, FRANCIS , Boris Rebolledo-Jaramillo , YUBERO GONCALVEZ, MARIA JOAO , Raymond J. Cho , Heather I. Rishel , M. Peter Marinkovich , Joyce M. C. Teng , Timothy G. Webster , Marco Prisco , Luis H. Eraso , Josefina Piñon Hofbauer , Andrew P. South

AbstractImpaired wound healing complicates a wide range of diseases and represents a major cost to healthcare systems. Here we describe the use of discarded wound dressings as a novel, cost effective, accessible, and non-invasive method of isolating viable human cells present at the site of skin wounds. By analyzing 133 discarded wound dressings from 51 patients with the inherited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers of cells, often in excess of 100 million per day, continually infiltrate wound dressings. We show, that the method is able to differentiate chronic from acute wounds, identifying significant increases in granulocytes in chronic wounds, and we show that patients with the junctional form of EB have significantly more cells infiltrating their wounds compared with patients with recessive dystrophic EB. Finally, we identify subsets of granulocytes and T lymphocytes present in all wounds paving the way for single cell profiling of innate and adaptive immune cells with relevance to wound pathologies. In summary, our study delineates findings in EB that have potential relevance for all chronic wounds, and presents a method of cellular isolation that has wide reaching clinical application.

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Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

2019 , Agnes Schwieger-Briel , FUENTES BUSTOS, MARIA IGNACIA , Daniele Castiglia , Antonio Barbato , Matthias Greutmann , Juna Leppert , Sabine Duchatelet , Alain Hovnanian , Sofia Burattini , M. Joao Yubero , Rodrigo Ibañez-Arenas , Boris Rebolledo-Jaramillo , Christoph Gräni , Hagen Ott , Martin Theiler , Lisa Weibel , Amy S. Paller , Giovanna Zambruno , Judith Fischer , Francis Palisson , Cristina Has

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Jupyter and Galaxy: Easing entry barriers into complex data analyses for biomedical researchers

2017 , Björn A. Grüning , Eric Rasche , REBOLLEDO JARAMILLO, BORIS EDUARDO , Carl Eberhard , Torsten Houwaart , John Chilton , Nate Coraor , Rolf Backofen , James Taylor , Anton Nekrutenko , Francis Ouellette

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Longitudinal study of wound healing status and bacterial colonisation of Staphylococcus aureus and Corynebacterium diphtheriae in epidermolysis bullosa patients

2022 , FUENTES BUSTOS, MARIA IGNACIA , YUBERO GONCALVEZ, MARIA JOAO , Pilar Morandé , Carmen Varela , Karen Oróstica , Francisco Acevedo , REBOLLEDO JARAMILLO, BORIS EDUARDO , Esteban Arancibia , PORTE TORRE, LORENA ISABEL , PALISSON ETCHARREN, FRANCIS

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Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome

2021 , REBOLLEDO JARAMILLO, BORIS EDUARDO , Maria Gabriela Obregon , Victoria Huckstadt , Abel Gomez , REPETTO LISBOA, MARIA GABRIELA

Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the presence of additional factors. The 22q11.2 deleted region contains nuclear encoded mitochondrial genes, and since mitochondrial function is critical during development, we hypothesized that changes in the mitochondrial DNA (mtDNA) could be involved in the intrafamilial variability of CHD and PA in cases of maternally inherited 22q11.2DS. To investigate this, we studied the transmission of heteroplasmic mtDNA alleles in seventeen phenotypically concordant and discordant mother-offspring 22q11.2DS pairs. We sequenced their mtDNA and identified 26 heteroplasmic variants at >1% frequency, representing 18 transmissions. The median allele frequency change between a mother and her child was twice as much, with a wider distribution range, in PA discordant pairs, p-value = 0.039 (permutation test, 11 concordant vs. 7 discordant variants), but not in CHD discordant pairs, p-value = 0.441 (9 vs. 9). Only the variant m.9507T>C was considered to be pathogenic, but it was unrelated to the structural phenotypes. Our study is novel, yet our results are not consistent with mtDNA variation contributing to PA or CHD in 22q11.2DS. Larger cohorts and additional factors should be considered moving forward.

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Dataset - Bio Project

2021 , REPETTO LISBOA, MARIA GABRIELA , REBOLLEDO JARAMILLO, BORIS EDUARDO

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

2024 , POLI HARLOWE, MARIA CECILIA BERTA , Boris Rebolledo-Jaramillo , Catalina Lagos , Joan Orellana , Gabriela Moreno , Luz M. Martín , Gonzalo Encina , Daniela Böhme , Víctor Faundes , M. Jesús Zavala , María Trinidad Hasbún , Sara Fischer , Florencia Brito , Diego Araya , Manuel Lira , Javiera de la Cruz , Camila Astudillo , Guillermo Lay-Son , Carolina Cares , Mariana Aracena , Esteban San Martin , Zeynep Coban-Akdemir , Jennifer E. Posey , James R. Lupski , Gabriela M. Repetto

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.

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Publication

Teneurins: An Integrative Molecular, Functional, and Biomedical Overview of Their Role in Cancer

2018 , Boris Rebolledo-Jaramillo , Annemarie Ziegler

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Publication

Prevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis

2021 , Geovanna V. Cárdenas , Carolina Iturriaga , Caroll D. Hernández , Macarena Tejos‐Bravo , Guillermo Pérez‐Mateluna , Carolina Cabalin , Marcela Urzúa , Luis F. Venegas‐Salas , Juan P. Fraga , REBOLLEDO JARAMILLO, BORIS EDUARDO , Maria C. Poli , REPETTO LISBOA, MARIA GABRIELA , Paola Casanello , José A. Castro‐Rodríguez , Arturo Borzutzky

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