Natalia Rivera
Research Specialist
E-mail: natalia.rivera@ki.se
Telephone: 0700302763
Visiting address: Solnavägen 30, Bioclinicum Lungforskningslab, J7:30, 17174 Solna
Postal address: K2 Medicin, Solna, K2 Lung Wheelock Å, 171 77 Stockholm
Part of:
About me
- Genetics and epigenetics of autoimmune diseases, chiefly sarcoidosis and rheumatoid arthritis.
I am a junior Principal Investigator (PI) committed to unraveling the underlying genetics and epigenetics of sarcoidosis and rheumatoid arthritis.
I am also the PI of the MESARGEN consortium (www.mesargen.org), an international framework to conduct genomic studies in sarcoidosis at a large
scale, including multiple populations of different ancestries. I am the chair of the WASOG 2023 conference (https://mkon.nu/wasog2023)
My research focus:
* Uncovering the molecular disease mechanisms in sarcoidosis and rheumatoid arthritis
* Integration of high-throughput molecular data, comprehensive clinical phenotypes, environmental and lifestyle data
* Utilization of cutting-edge statistical and computational methods to adopt an innovative research approach
* Conducting data-driven investigations to harness the power of vast datasets thus to shed light on disease pathogenesis or identify potential therapeutic targets
* Advancing collaborations through the MESARGEN consortium for advanced molecular and genomic studies in sarcoidosis
The MESARGEN consortium is a pioneering international framework that aims to revolutionize the genomics field of sarcoidosis. The mission of MESARGEN is to amass extensive sample sizes and ensure population ancestry diversity, addressing the current research gap in sarcoidosis studies. The collective clinical, basic, and computational expertise in MESARGEN elevates the research's robustness, paving the way for more accurate identification of molecular targets and clinically applicable biomarkers.
*Funding as main applicant (Principal Investigator)*
* 2021 – 2022 *Project grant* “Integration of omics data to
identify potential drug targets in sarcoidosis”, Svensk Lungmedicinsk
Förenings (SLMFs) Lung Medicine Research Grant
* 2021 -2022 *Project grant* "Epigenetic markers of ocular
sarcoidosis", KI Stiftelser och Fonder, Stockholm, Sweden
* 2021 – 2023 *Project grant* “Molecular biomarkers of
sarcoidosis using MESARGEN, a multi-ethnic population-based consortium”,
Swedish Heart and Lung Foundation, Stockholm, Sweden
* 2021 – 2023 *Research months* “Discovery of clinical
biomarkers in organ-specific sarcoidosis phenotypes via the integration of
genome, transcriptome, and methylome coupled with lifestyle and
environmental exposures”, Swedish Heart and Lung Foundation, Stockholm,
Sweden
* 2021 – 2022 *Project grant* “The integration of genetic
data and environmental factors including lifestyle exposures in
sarcoidosis”, KI Stiftelser och Fonder, Stockholm, Sweden
* 2020 - 2022 *Project grant* “Blood and lung-based DNA
methylation in pulmonary sarcoidosis: Biomarker discovery and potential
drug targets for clinical applications”, Swedish Medical Society,
Stockholm, Sweden
* 2019 - 2020 *Project grant* “Genetic markers for diagnosis
of sarcoidosis”, Tore Nilsons Foundation for Medical Research,
Stockholm, Sweden
* 2019 - 2020 *Project grant* “Molecular biomarkers of
sarcoidosis in the Multi-Ethnic Sarcoidosis Consortium for Genetic Studies
(MESARGEN)”, Foundation for Sarcoidosis Research, Illinois, US
* 2019 - 2020 *Project grant* “Genomic markers of
sarcoidosis – a systemic inflammatory disease”, Sigurd och Elsa Goljes
Minne Foundation, Stockholm, Sweden
* 2018 - 2020 *Project grant* “Elucidating mechanisms of
chronic inflammation in ocular sarcoidosis”, Karolinska Institutet
Foundation, Stockholm, Sweden
* 2019 - 2020 *Project grant *“Genetic investigations on
chronic inflammatory diseases, such as cardiac sarcoidosis, Lars Hiertas
Minne Foundation, Stockholm, Sweden
* 2018 - 2020 *Project grant* “The role of expression
quantitative trait loci (eQTLs) in lung cells of patients with
sarcoidosis”, Karolinska Institutet Foundation, Stockholm, Sweden
* 2018 - 2019 *Project grant* “Clinical biomarkers for
sarcoidosis disease”, Eva and Oscar Ahréns Foundation, Stockholm,
Sweden
* 2017 - 2020 *Project grant* “Molecular biomarkers of
sarcoidosis using MESARGEN, a multi-ethnic population-based consortium”,
Swedish Heart and Lung Foundation, Stockholm, Sweden
* 2017 - 2019 *Project grant* “Calcium levels and
sarcoidosis, A Mendelian Randomization Study”, Lisa and Johan Grönbergs
Foundation, Stockholm, Sweden
PhD in Molecular Medicine, Feb 2012. Dissertation title: "Genetics of Left
Ventricular Hypertrophy". Doctoral School of Molecular Medicine, University
of Milan, Segrate, Milan, Italy
Master of Science in Health Sciences - Specialization Genetic Epidemiology,
Sept 2011. Thesis title: "Assessment of 9p21.3 locus with severity of
Coronary Artery (CAD) in the presence and absence of Type 2
Diabetes". Netherlands Institute for Health Sciences (NIHES), Erasmus
University Medical Center Rotterdam, The Netherlands
Master of Science in Electrical Engineering, Jan 2005. Rutgers, The State
University of New Jersey, New Brunswick, New Jersey, USA
Bachelor of Science in Electrical Engineering, Dec 1999. Syracuse
University, Syracuse, New York, USA
[1] https://mesargen.wordpress.com/
Research
- *Introduction*
Sarcoidosis is a multisystem granulomatous inflammatory disease of unknown
etiology. The disease predominantly affects the lung - however, other organs
can be affected as the disease progresses, with up to 20% of patients
developing fibrotic lung disease (i.e., pulmonary fibrosis). The disease
occurs worldwide, varying in prevalence and clinical course across
populations of different ancestries. Northern Europeans and African Americans
are the most susceptible to the development of the disease and predominantly
women. Individuals affected by sarcoidosis are between 30 and 60 years of
age.
Several disease features, such as the variability in the clinical
presentation and lack of case definitions, pose a challenge for its
diagnosis, further compromised by the lack of specific diagnostic biomarkers.
To date, no biomarkers enable a definitive diagnosis of the disease. Like
many complex autoimmune diseases, sarcoidosis has a genetic component that
underlies the disease pathogenesis and implicates molecular dysfunctions in
the homeostasis of the immune system that are likely caused by environmental
factors and lifestyle exposures in genetically predisposed individuals.
Therefore, to identify the disease mechanisms underlying sarcoidosis
pathogenesis, it is first central to recognize molecular determinants in the
disease.
*Research focus*
Our group focuses on genomic investigations of sarcoidosis and rheumatoid
arthritis. Our vision is to decipher the molecular mechanisms underlying
disease pathogenesis and chronic inflammation implicated in autoimmunity. Our
work is mainly data-driven, with high-throughput molecular data compounded
with statistical methods, bioinformatics, and cutting-edge data-driven
approaches.
Using genomic data collected by MESARGEN in 19 European populations with
appropriate controls, we aim to explore the opportunity for biomarker
discovery, thereby conducting genome-wide screening in multi-ethnic
cross-sectional cohorts, to understand how genetic variation underlines the
disease architecture of sarcoidosis. Moreover, genetic information combined
with epigenomic and transcriptomic data and environmental / lifestyle
exposures will provide a more precise and predictive approach for identifying
sarcoidosis's genomic signatures (“biomarkers”).
Our long-term goal is to identify clinical biomarkers and molecular disease
targets that can help clinicians with better diagnostic and prognostic tools.
Specifically, we envision applying genomic signatures to classify individuals
susceptible to disease and those with increased risk for adverse disease
outcomes. Deciphering the molecular networks underlying sarcoidosis
pathogenesis will lead to a better understanding of the disease and,
eventually, the development of more realistic gene-based therapies in
sarcoidosis.
MESARGEN – Multi-Ethnic Sarcoidosis Genomics Consortium [1] was established
in 2016, and it is the most extensive international framework in Europe
dedicated to genomic investigations and translational research in sarcoidosis
funded by the Swedish Heart-Lung Foundation.
*Group members*
Olga Chuquimia [2], research engineer
/Former members/
Julius Jakobsson, medical student
Patrick Kanyi Ndungu, master student
Ying Xiong, master student
Tomoko Iseda, research assistant
Zdenka Navratlova, postdoc
Christine Scerbo, summer student
Muntasir Abo Al Hayja, doctoral student
Vasiliki Vasila, research assistant
Karina Patasova, master student
[1] https://mesargen.org/
[2] olga.chuquimia@ki.se
Teaching
- * Basic statistical genetics and data visualization [1], course number 5308,
spring 2022, 2023
* Pulmonary inflammation, course number 3145 (1.5 p), spring term 2019
* Basic course in bioinformatics, course number 3044 (1.5), spring term 2018
and 2019
[1] https://kiwas.ki.se/katalog/katalog/kurs/9304
Articles
-
Article: PSYCHOLOGICAL MEDICINE. 2023;53(15):7300-7308
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Article: CLINICAL AND EXPERIMENTAL IMMUNOLOGY. 2023;213(3):357-362
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Article: FRONTIERS IN MEDICINE. 2023;10:1061654
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Article: FRONTIERS IN MEDICINE. 2023;10:1174518
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Article: FRONTIERS IN MEDICINE. 2023;10:1132799
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Article: NATURE GENETICS. 2022;54(9):1332-1344
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Article: RESPIRATORY MEDICINE. 2021;187:106537
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Article: BMJ OPEN RESPIRATORY RESEARCH. 2021;8(1):e000933
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Article: CLINICAL AND EXPERIMENTAL IMMUNOLOGY. 2020;201(1):85-93
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Journal article: CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS. 2020;95(5):895-903
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Article: EUROPEAN CLINICAL RESPIRATORY JOURNAL. 2020;7(1):1730137
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Article: SCIENTIFIC REPORTS. 2019;9(1):18633
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Article: NEUROGASTROENTEROLOGY AND MOTILITY. 2018;30(9):e13358
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Article: SCIENTIFIC REPORTS. 2017;7(1):5623
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Article: PLOS GENETICS. 2017;13(4):e1006528
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Article: NEUROGASTROENTEROLOGY AND MOTILITY. 2017;29(2)
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Article: JOURNAL OF HUMAN HYPERTENSION. 2017;31(1):37-42
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Article: MOLECULAR & CELLULAR PROTEOMICS. 2016;15(9):3017-3029
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Article: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE. 2016;193(9):1008-1022
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Article: EUROPEAN RESPIRATORY JOURNAL. 2016;47(3):898-909
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Article: GUT. 2015;64(11):1774-1782
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Article: JOURNAL OF HYPERTENSION. 2015;33(6):1301-1309
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Article: BMC MEDICAL GENETICS. 2013;14:11
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Article: PLOS MEDICINE. 2013;10(6):e1001474
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Article: PLOS MEDICINE. 2011;8(11):e1001116
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Journal article: ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX - PRATIQUE. 2010;2010(190):45
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Article: FASEB JOURNAL. 2010;24(6):1981-1988
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Article: CIRCULATION. 2010;121(19):2117-2122
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Article: EUROPEAN HEART JOURNAL. 2008;29(20):2569-2576
- Show more
All other publications
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Corrigendum: FRONTIERS IN MEDICINE. 2024;11:1382584
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Meeting abstract: ANNALS OF THE RHEUMATIC DISEASES. 2022;81:1152
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Meeting abstract: ANNALS OF THE RHEUMATIC DISEASES. 2022;81:1177
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Book chapter: SARCOIDOSIS. 2022;p. 41-56
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Preprint: RESEARCH SQUARE. 2021
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Review: CURRENT OPINION IN PULMONARY MEDICINE. 2020;26(5):544-553
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Conference publication: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE. 2019;199:a2431
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Corrigendum: PLOS GENETICS. 2017;13(8):e1006972
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Conference publication: NEUROGASTROENTEROLOGY AND MOTILITY. 2015;27:27
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Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2013;28
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Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2013;28
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Letter: CIRCULATION. 2011;123(5):E226
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Conference publication: CIRCULATION. 2011;124(21)