Natalia Rivera

Natalia Rivera

Affiliated to Research | Docent
Visiting address: Center for Molecular Medicine (CMM) L8, Visionsgatan 18, 17164 Stockholm
Postal address: K2 Medicin, Solna, K2 Imm o lung Smed Sörensen A, 171 77 Stockholm
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About me

  • I am an Associate Professor (Docent) of Medical Genetics with a research focus on uncovering the genetic and genomic foundations of interstitial lung diseases (ILDs). My work centers on sarcoidosis, interstitial lung abnormalities (ILAs), and idiopathic pulmonary fibrosis (IPF), as well as on active research in rheumatoid arthritis and connective tissue disease-associated ILD (CTD-ILD). Across these intersecting disease areas, my research seeks to explain why patients differ in disease onset, progression, and clinical outcomes and how this knowledge can be leveraged to improve patient care.

    I am the founder and lead principal investigator of the MESARGEN consortium (www.mesargen.org), an international platform dedicated to large-scale, multi-ancestry genomic studies of sarcoidosis. By systematically investigating the full clinical spectrum of sarcoidosis across diverse populations, my work aims to provide a comprehensive, globally relevant understanding of the disease’s genetic architecture, clinical heterogeneity, and underlying molecular mechanisms. MESARGEN is now part of the SARCOIDOMICS Network, a newly ERS-funded Clinical Collaboration Network, further strengthening international efforts to advance sarcoidosis research and accelerate the transition toward personalized medicine. Through this collaborative framework, we connect molecular discovery with clinical application, enhancing the scientific rigor, translational relevance, and clinical impact of our research while advancing the field of sarcoidosis at both molecular and clinical levels.

    As I continue to expand my research in ILDs, I am actively seeking career opportunities to develop and lead innovative, genomics-driven research programs. My overarching goal is to generate new insights into disease mechanisms, dissect disease heterogeneity, and translate genomic discoveries into strategies that improve prevention, diagnosis, and patient care. By addressing the complexity of genomic variation in ILDs, my work directly contributes to the broader Precision Medicine vision. I am also deeply committed to fostering collaboration and mentorship, ensuring that scientific advances translate into meaningful and lasting benefits for patients.

Research

    • Defining clinically relevant molecular disease mechanisms in sarcoidosis, interstitial lung abnormalities (ILA), idiopathic pulmonary fibrosis (IPF), and rheumatoid arthritis through integrated analysis of molecular phenotypes, including the genome, epigenome, transcriptome, proteome, and metabolome.
    • Translating high-throughput multi-omics data into actionable genomic and molecular signatures that inform disease risk stratification, prognosis, and treatment response.
    • Identifying and validating biomarkers for early diagnosis, disease progression, and therapeutic decision-making using large-scale, multi-ancestry population cohorts coupled with advanced computational and statistical genomics methods.

Teaching

  • Doctoral courses 2019 - 2025:

    • Director and lecturer of doctoral course (no. 5308) - Fundamentals of Statistical Genetics and Data Visualization, every Spring term
    • Lecturer of doctoral course (no. 3145) Pulmonary inflammation, Spring 2019
    • Lecturer of doctoral course (no. 3044) Basic Bioinformatics, Spring 2018 and 2019

Selected publications

Articles

All other publications

  • Preprint: MEDRXIV. 2025
    Culver D; Schmidt M; Wijsenbeek-Lourens M; Kreuter M; Cottin V; Kunikowska J; Rivera N; Veltkamp M; Baukmann H; Cope J; Ravarani C; Zasłona Z; Charitos T; Iwanowski P
  • Conference publication: EUROPEAN RESPIRATORY JOURNAL. 2025;66:OA5500
    Rivera NV; Patasova K; Pezant N; Kerick M; Meguro A; Van Moorsel C; Andries A; Lunde AG; Teder-Laving M; Jun H; Polimanti R; Manali ED; Navratilova Z; Petrek M; Carvalho A; Lokki I; Chuquimia OD; Darlington P; Wheelock A; Van Der Vis A; Wind A; Siokas V; Marogianni C; Gazouli M; Spyropoulos G; Domvri K; Papakosta D; Azuma A; Ishihara M; Takeuchi M; Mizuki N; Spagnolo P; Sellares J; Hveem K; Brumpton BM; Metspalu A; Lokki M-L; Dardiotis E; Papiris SA; Iriarte A; Mana J; Martin J; Morais A; Bastos HN; Montgomery C; Veltkamp M; Grutters J; Kullberg S; Padyukov L
  • Editorial: ARCHIVOS DE BRONCONEUMOLOGIA. 2025;61(9):525-527
    Rivera NV
  • Corrigendum: MOLECULAR NEURODEGENERATION. 2025;20(1):91
    Passaretti M; Vereb D; Mijalkov M; Chang Y-W; Zhao H; Zufiria-Gerboles B; Sun J; Volpe G; Rivera N; Bologna M; Pereira JB
  • Preprint: MEDRXIV. 2024
    Kullberg S; Darlington P; Ellinghaus D; Prasse A; Iseda T; Chuquimia O; Eklund A; Schreiber S; Müller-Quernheim J; Kockum I; Wheelock Å; Padyukov L; Mirsaeidi M; Spagnolo P; Rivera N
  • Editorial: LANCET RESPIRATORY MEDICINE. 2024;12(11):848-851
    Drent M; Russell A-M; Saketkoo LA; Spagnolo P; Veltkamp M; Wells AU; representatives of the sarcoidosis community
  • Conference publication: GENETIC EPIDEMIOLOGY. 2024;48(7):378
    Makadsi J; Chuquimia OD; Kullberg S; Padyukov L; Rivera NV
  • Conference publication: EUROPEAN RESPIRATORY JOURNAL. 2024;64:pa2490
    Patasova K; Chuquimia O; Kullberg S; Padyukov L; Rivera NV
  • Conference publication: EUROPEAN RESPIRATORY JOURNAL. 2024;64:OA952
    Rivera NV; Chuquimia OD; Pezant N; Kerick M; Meguro A; Van Moorsel C; Manali ED; Petrek M; Bastos HN; Carvalho A; Azuma A; Ishihara M; Takeuchi M; Mizuki N; van der Vis A; Wind A; Gazouli M; Gialafos E; Spyropoulos G; Domvri K; Papakosta D; Darlington P; Grunewald J; Kolek V; Navratilova Z; Jakubec P; Sikorova K; Doubkova M; Cunha C; Santos R; Morais A; Papiris SA; Veltkamp M; Grutters J; Martin J; Mana J; Iriarte A; Montgomery C; Kullberg S; Padyukov L
  • Corrigendum: FRONTIERS IN MEDICINE. 2024;11:1382584
    Xiong Y; Kullberg S; Garman L; Pezant N; Ellinghaus D; Vasila V; Eklund A; Rybicki BA; Iannuzzi MC; Schreiber S; Mueller-Quernheim J; Montgomery CG; Grunewald J; Padyukov L; Rivera NV
  • Meeting abstract: ANNALS OF THE RHEUMATIC DISEASES. 2022;81:1152
    Duggal N; Raza K; Sharma-Oates A; Rivera N; Padyukov L; Pratt A; Niemantsverdriet E; Mil AVDH-V; Jones S; Lord J
  • Meeting abstract: ANNALS OF THE RHEUMATIC DISEASES. 2022;81:1177
    Sharma-Oates A; Rivera N; Duggal N; Raza K; Padyukov L; Pratt A; Niemantsverdriet E; Van der Helm-Van Mil A; Jones S; Lord J
  • Book chapter: SARCOIDOSIS. 2022;p.
    van Moorsel CHM; Petrek M; Rivera NV
  • Preprint: RESEARCH SQUARE. 2021
    Xiong Y; Kullberg S; Garman L; Pezant N; Ellinghaus D; Vasila V; Eklund A; Rybicki B; Iannuzzi M; Schreiber S; Müller-Quernheim J; Montgomery C; Grunewald J; Padyukov L; Rivera N
  • Study protocol: CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS. 2020;95(5):895-903
    Briguori C; D'Amore C; De Micco F; Signore N; Esposito G; Napolitano G; Focaccio A
  • Conference publication: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE. 2019;199:a2431
    Rivera N; Kullberg S; Iseda T; Eklund AG; Padyukov L; Grunewald J
  • Corrigendum: PLOS GENETICS. 2017;13(8):e1006972
    Graff M; Scott RA; Justice AE; Young KL; Feitosa MF; Barata L; Winkler TW; Chu AY; Mahajan A; Hadley D; Xue L; Workalemahu T; Heard-Costa NL; den Hoed M; Ahluwalia TS; Qi Q; Ngwa JS; Renström F; Quaye L; Eicher JD; Hayes JE; Cornelis M; Kutalik Z; Lim E; Luan J; Huffman JE; Zhang W; Zhao W; Griffin PJ; Haller T; Ahmad S; Marques-Vidal PM; Bien S; Yengo L; Teumer A; Smith AV; Kumari M; Harder MN; Justesen JM; Kleber ME; Hollensted M; Lohman K; Rivera NV; Whitfield JB; Zhao JH; Stringham HM; Lyytikäinen L-P; Huppertz C; Willemsen G; Peyrot WJ; Wu Y; Kristiansson K; Demirkan A; Fornage M; Hassinen M; Bielak LF; Cadby G; Tanaka T; Mägi R; van der Most PJ; Jackson AU; Bragg-Gresham JL; Vitart V; Marten J; Navarro P; Bellis C; Pasko D; Johansson Å; Snitker S; Cheng Y-C; Eriksson J; Lim U; Aadahl M; Adair LS; Amin N; Balkau B; Auvinen J; Beilby J; Bergman RN; Bergmann S; Bertoni AG; Blangero J; Bonnefond A; Bonnycastle LL; Borja JB; Brage S; Busonero F; Buyske S; Campbell H; Chines PS; Collins FS; Corre T; Smith GD; Delgado GE; Dueker N; Dörr M; Ebeling T; Eiriksdottir G; Esko T; Faul JD; Fu M; Færch K; Gieger C; Gläser S; Gong J; Gordon-Larsen P; Grallert H; Grammer TB; Grarup N; van Grootheest G; Harald K; Hastie ND; Havulinna AS; Hernandez D; Hindorff L; Hocking LJ; Holmens OL; Holzapfel C; Hottenga JJ; Huang J; Huang T; Hui J; Huth C; Hutri-Kähönen N; James AL; Jansson J-O; Jhun MA; Juonala M; Kinnunen L; Koistinen HA; Kolcic I; Komulainen P; Kuusisto J; Kvaløy K; Kähönen M; Lakka TA; Launer LJ; Lehne B; Lindgren CM; Lorentzon M; Luben R; Marre M; Milaneschi Y; Monda KL; Montgomery GW; De Moor MHM; Mulas A; Müller-Nurasyid M; Musk AW; Männikkö R; Männistö S; Narisu N; Nauck M; Nettleton JA; Nolte IM; Oldehinkel AJ; Olden M; Ong KK; Padmanabhan S; Paternoster L; Perez J; Perola M; Peters A; Peters U; Peyser PA; Prokopenko I; Puolijoki H; Raitakari OT; Rankinen T; Rasmussen-Torvik LJ; Rawal R; Ridker PM; Rose LM; Rudan I; Sarti C; Sarzynski MA; Savonen K; Scott WR; Sanna S; Shuldiner AR; Sidney S; Silbernagel G; Smith BH; Smith JA; Snieder H; Stančáková A; Sternfeld B; Swift AJ; Tammelin T; Tan S-T; Thorand B; Thuillier D; Vandenput L; Vestergaard H; van Vliet-Ostaptchouk JV; Vohl M-C; Völker U; Waeber G; Walker M; Wild S; Wong A; Wright AF; Zillikens MC; Zubair N; Haiman CA; Lemarchand L; Gyllensten U; Ohlsson C; Hofman A; Rivadeneira F; Uitterlinden AG; Pérusse L; Wilson JF; Hayward C; Polasek O; Cucca F; Hveem K; Hartman CA; Tönjes A; Bandinelli S; Palmer LJ; Kardia SLR; Rauramaa R; Sørensen TIA; Tuomilehto J; Salomaa V; Penninx BWJH; de Geus EJC; Boomsma DI; Lehtimäki T; Mangino M; Laakso M; Bouchard C; Martin NG; Kuh D; Liu Y; Linneberg A; März W; Strauch K; Kivimäki M; Harris TB; Gudnason V; Völzke H; Qi L; Järvelin M-R; Chambers JC; Kooner JS; Froguel P; Kooperberg C; Vollenweider P; Hallmans G; Hansen T; Pedersen O; Metspalu A; Wareham NJ; Langenberg C; Weir DR; Porteous DJ; Boerwinkle E; Chasman DI; CHARGE Consortium; EPIC-InterAct Consortium; PAGE Consortium; Abecasis GR; Barroso I; McCarthy MI; Frayling TM; O'Connell JR; van Duijn CM; Boehnke M; Heid IM; Mohlke KL; Strachan DP; Fox CS; Liu C-T; Hirschhorn JN; Klein RJ; Johnson AD; Borecki IB; Franks PW; North KE; Cupples LA; Loos RJF; Kilpeläinen TO
  • Conference publication: NEUROGASTROENTEROLOGY AND MOTILITY. 2015;27:27
    D'Amato M; Bonfiglio F; Hysi P; Ek W; Rivera NV; Nordenstedt H; Bresso F; Schmidt PT; Williams F; Tornblom H; Magnusson P; Pedersen NL; Mannikko M; Karhunen V; Ronkainen J
  • Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2013;28
    Oei L; Reppe S; Ntzani E; Hibbs M; Choi K; Zheng H-F; Estrada K; van de Peppel J; Nielson C; Styrkarsdottir U; Ridker P; Hsu Y-H; Garcia M; Aragaki A; Duncan E; Enneman A; Lehtimaki T; Esko T; Trompet S; Kaptoge S; Eriksson J; Amin N; Kung A; Medina-Gomez C; Tsilidis K; Thorleifsson G; Rose L; Zmuda J; Liu C-T; Vernon-Smith A; Srikanth P; Wilson S; Clark G; Viikari J; Mihailov E; Moayyeri A; Li G; Kammerer C; Lorentzon M; Rivera N; Xiao S; Yang J; Visscher P; Tranah G; Evans D; Karasik D; Siggeirsdottir K; Oei E; Stefansson K; Aalto V; Willner D; Wareham N; Minster R; Bis J; van Duijn C; Boyle A; Snyder M; Herrera L; Cupples LA; Aspelund T; Raitakari O; Leo P; Khaw K-T; Robbins J; Liu Y; Breda S; Luben R; Cauley J; Arnold A; Stolk L; Pols H; Hofman A; Shen J; Van Meurs J; Sham P; Zillikens M; Ohlsson C; Psaty B; Harris T; Reeve J; Jukema JW; Metspalu A; Kahonen M; van der Velde N; Brown M; Gudnason V; Ioannidis J; Uitterlinden A; Cummings S; Spector T; Kiel D; Jackson R; Thorsteinsdottir U; Chasman D; Orwoll E; Yadav V; Van Leeuwen J; Evangelou E; Grundberg E; Richards B; Gautvik K; Rivadeneira F; Ackert-Bicknell C
  • Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2013;28
    Oei L; Nordstrom P; Ntzani E; Zheng H-F; Estrada K; Duncan E; Medina-Gomez C; Kaptoge S; Hsu Y-H; Yang J; Nielson C; Styrkarsdottir U; Ridker P; Garcia M; Aragaki A; Enneman A; Lehtimaki T; Esko T; Trompet S; Eriksson J; Amin N; Kung A; Tsilidis K; Thorleifsson G; Rose L; Zmuda J; Liu C-T; Vernon-Smith A; Srikanth P; Wilson S; Clark G; Viikari J; Mihailov E; Moayyeri A; Li G; Kammerer C; Lorentzon M; Rivera N; Xiao S; Tranah G; Evans D; Siggeirsdottir K; Oei E; Stefansson K; Aalto V; Willner D; Wareham N; Minster R; Bis J; van Duijn C; Boyle A; Snyder M; Herrera L; Cupples LA; Aspelund T; Raitakari O; Leo P; Khaw K-T; Robbins J; Liu Y; Breda S; Luben R; Cauley J; Arnold A; Reppe S; Hibbs M; Stolk L; Pasco J; Grundberg E; Gautvik K; Ackert-Bicknell C; Yadav V; Choi K; van de Peppel J; Van Leeuwen J; Pols H; Hofman A; Shen J; van Meurs J; Atanasovska B; Sham P; Ohlsson C; Psaty B; Harris T; Reeve J; Jukema JW; Metspalu A; Kahonen M; van der Velde N; Brown M; Gudnason V; Ioannidis J; Uitterlinden A; Cummings S; Spector T; Kiel D; Jackson R; Thorsteinsdottir U; Chasman D; Orwoll E; Karasik D; Zillikens M; Evangelou E; Richards B; Visscher P; Michaelsson K; Rivadeneira F
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Grants

  • Swedish Heart-Lung Foundation
    1 January 2021 - 31 December 2023
  • Swedish Heart-Lung Foundation
    1 January 2021 - 31 December 2023
  • Genomic markers for diagnosis of sarcoidosis
    Sigurd och Elsa Goljes Minne Foundation
  • Genetic markers for diagnosis of sarcoidosis
    Tore Nilsons Stiftelsen
  • Molecular mechanisms and new treatment strategies of sarcoidosis
    Magnus Bergvalls Foundation
  • Integration of omics data to identify potential drug targets in sarcoidosis
    Swedish Pulmonary Medical Association
    Project Award
  • Molecular biomarkers of sarcoidosis using MESARGEN, a multi-ethnic population-based consortium
    Swedish Heart Lung Foundation
  • 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 Lung Foundation
  • The integration of genetic data and environmental factors including lifestyle exposures in sarcoidosis
    KI Foundation
  • Genetic markers for diagnosis of sarcoidosis
    Tore Nilsons Foundation
  • Molecular Biomarkers of sarcoidosis in the Multi-Ethnic Sarcoidosis Genomics (MESARGEN) Consortium
    Foundation for Sarcoidosis Research (FSR), USA
  • Genomic markers of sarcoidosis – a systemic inflammatory disease
    Sigurd och Elsa Goljes Minne Foundation
  • Elucidating mechanisms of chronic inflammation in ocular sarcoidosis
    KI Fondation
  • Genetic investigations on chronic inflammatory diseases, such as cardiac sarcoidosis
    Lars Hiertas Minne Foundation
  • Clinical biomarkers for sarcoidosis disease
    Eva and Oscar Ahréns Foundation
  • Molecular biomarkers of sarcoidosis using MESARGEN, a multi-ethnic population-based consortium
    Swedish Heart Lung Foundation
  • Calcium levels and sarcoidosis, A Mendelian Randomization Study
    Lisa and Johan Grönbergs Foundation

Employments

  • Affiliated to Research, Department of Medicine, Karolinska Institutet, 2026-2027
  • Research Specialist, Department of Medicine, Karolinska Institutet, 2023-2026

Degrees and Education

  • Docent, Karolinska Institutet, 2025

Leadership and responsibility assignments

Committee work

Other expert reviewer/evaluation assignment

  • Evaluator of research applications in national competition, NIH Genetics of Health and Disease Study Section – GHD, National Institutes of Health, 2025-2025
  • Expert reviewer of research applications, Foundation for Sarcoidosis Research, Foundation for Sarcoidosis Research, 2025-2025
  • Expert reviewer of research applications, Horizon Europe: Marie Skłodowska-Curie Actions, European Commission, 2024-2024

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