Person: Rebolledo Jaramillo, Boris
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Rebolledo Jaramillo
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Boris
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Publication Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile(2024) Poli Harlowe, María Cecilia; Rebolledo Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martín, Luz M.; Encina, Gonzalo; Böhme, Daniela; Faundes, Víctor; Zavala, M. Jesús; Hasbún, María Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; Cruz, Javiera de la; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; San Martín, Esteban; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Lupski, James R.; Repetto, GabrielaRare 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.Publication Stroke and cervical artery dissection and/or aneurysm: 2019-2021 Chilean hospital-based national registry(2025) Allende, Maria; Munoz Venturelli, Paula; Mazzon, Enrico; Brunser, Alejandro; Delgado, Iris; Rebolledo Jaramillo, BorisBackground: Cervical artery dissection is one of the main causes of stroke in young adults, yet the characteristics of patients have been mainly described in Caucasian populations. We aimed to identify patients' characteristics associated with stroke among cervical artery dissection patients in Chile. Methods: We conducted a retrospective analysis of a national hospital-based database in Chile between 2019 and 2021. Patients with cervical artery dissection or aneurysm (CeDA) were identified using ICD-10 codes I72.0 (carotid artery) and I72.6 (vertebral artery); stroke events were classified using codes I60-I64. We performed multivariable logistic regression to evaluate the association between patients' characteristics and stroke occurrence. We further performed Poisson regression to assess the impact of the coronavirus pandemic on CeDA admissions. Results: Of 2,647,398 hospital discharges, we identified 597 CeDA patients (mean [SD] age 57 [15] years; female 384, 64 %). Stroke occurred in 233 (37 %) patients, with ischaemic stroke accounting for 71 % of these events. In the multivariable analysis, stroke occurrence was associated with vertebral artery involvement (OR 2.89; 95 %CI 1.76-4.77), atrial fibrillation (2.25; 1.03-4.90), hypertension (1.85; 1.25-2.74), male sex (1.80; 1.24-2.62) and current smoking (1.78; 1.13-2.80). Hospital admissions for CeDA declined in 2020 (rate ratio [RR] 0.69; 95 %CI 0.57-0.85) and 2021 (0.76; 0.63-0.92), compared with 2019. Conclusions: In this Chilean hospital-based database, stroke occurrence among CeDA patients was linked to male sex, vertebral artery involvement, hypertension, current smoking, and atrial fibrillation. Further research is needed to understand the underlying mechanisms and its association with patient prognosis.Publication Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations(2025) Ruiz, Mauricio; Böhme, Daniela; Repetto, Gabriela; Rebolledo, Boris; Rebolledo Jaramillo, BorisBackground. The coevolution of nuclear and mitochondrial genomes has guaranteed mitochondrial function for millions of years. The introduction of European (EUR) and African (AFR) genomes into the Ameridian continent during the Columbus exchange in Latin America created an opportunity to naturally test different combinations of nuclear and mitochondrial genomes. However, the impact of potential "mitonuclear discordance" (MND, differences in ancestries) has not been evaluated in Latin American admixed individuals (AMR) affected with developmental disorders, even though MND alters mitochondrial function and reduces viability in other organisms. Methods. To characterize MND in healthy and affected AMR individuals, we used AMR genotype data from the 1000 Genomes Project (n = 385), two cohorts of 22q.11 deletion syndrome patients 22qDS-ARG (n = 26) and 22qDS-CHL (n = 58), and a cohort of patients with multiple congenital anomalies and/or neurodevelopmental disorders (DECIPHERD, n = 170). Based on their importance to mitochondrial function, genes were divided into all mitonuclear genes (n = 1035), high-mt (n = 167), low-mt (n = 793), or OXPHOS (n = 169). We calculated local ancestry using FLARE and estimated MND as the fraction of nuclear mitochondrial genes ancestry not matching the mtDNA ancestry and ∆MND as (MNDoffspring-MNDmother)/MNDmother. Results. Generally, MND showed distinctive population and haplogroup distributions (ANOVA p < 0.05), with haplogroup D showing the lowest MND of 0.49 ± 0.17 (mean ± s.d.). MND was significantly lower in 22qDS-ARG patients at 0.43 ± 0.24 and DECIPHERD patients at 0.56 ± 0.12 compared to healthy individuals at 0.60 ± 0.09 (ANOVA p < 0.05). OXPHOS and high-mt showed the same trend, but with greater differences between healthy and affected individuals. Conclusions. MND seems to inform population history and constraint among affected individuals, especially for OXPHOS and high-mt genes.