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          Translational Genetics and Genomics Section








Translational Genetics and Genomics Section


Michael J. Ombrello, M.D. FacebookEmailPrintFacebookEmail
        Translational Genetics and Genomics Unit

      Overview

                                  Investigator
      
  


Michael J. Ombrello, M.D.
      
  


            ombrellomj@mail.nih.gov
      
                                                                        

  
   Research Areas (IRP Lab Groups)
          Autoimmunity,
          Genetics and Genomics
                                
            The Translational Genetics and Genomics Section (TGGS) is a research group focused on understanding the mechanisms that underlie inflammatory and autoimmune disease. The unit applies integrated genomic approaches to investigate autoinflammatory and rheumatic diseases, seeking to understand the mechanisms through which disease-associated genetic variants participate in disease pathophysiology. The unit's goal is to advance our knowledge of rheumatic disease pathophysiology and inflammatory biology.

The goals of the unit are to:

Use genetics, genomics and bioinformatics approaches to identify the genetic basis of complex autoinflammatory and autoimmune diseases.
	Determine mechanisms through which disease-associated variants participate in pathophysiology of autoinflammatory phenotypes.
	Search for novel genetic causes of autoinflammation and autoimmunity.A major focus of the TGGS is on investigating and understanding genetically-complex diseases, such as Still's disease/systemic juvenile arthritis and Behçet's disease. Working with large international collaborations, we are engaged in integrated genomic investigations of well-phenotyped patient collections. We are also seeking to better understand the mechanisms of seemingly unprovoked inflammation through the study of individuals and families with monogenic inflammatory diseases, such as PLCG2 associated antibody deficiency and immune dysregulation (PLAID), together with phenotypically-similar but genetically-complex disorders, such as common variable immune deficiency. Through the biologic knowledge that such studies produce, we hope to identify novel therapeutic targets and ultimately improve the lives of individuals affected by chronic inflammatory and rheumatic diseases.

Another interest of the group is to determine the role of major histocompatibility complex (MHC) proteins in complex autoinflammatory diseases. Because of their role in presenting peptide antigens to T cells, MHC molecules are traditionally considered to be part of the adaptive immune system, a notion supported by their association with numerous autoimmune diseases. In contrast, autoinflammatory diseases are those in which inflammation develops in the absence of overt evidence of autoimmunity. While there is little evidence that autoimmunity is involved in the inflammatory phenotypes of either Behçet's disease or Still's disease, classical MHC alleles have been identified as risk factors in both cases. This has led the unit to consider mechanisms through which these molecules may influence inflammation without triggering autoimmunity.
      

                                            Scientific Advances
      
  

      September 26, 2023Genetic Variants of PLCG2 Cause Immune Dysregulation Through Either Increased or Decreased Function
    November 17, 2021Severe Delayed Hypersensitivity Reactions to IL1 and IL6 Inhibitors Linked to a Common Genetic Profile

                                                      Core Research Facilities

Labs at the NIAMS are supported by the following state-of-the-art facilities and services:

Biodata Mining and Discovery
	Flow Cytometry
	Genomic Technology
	Laboratory Animal Care and Use
	Light Imaging
	Translational Immunology

                                    Staff
                            
            **Michael J. Ombrello, M.D.**Investigatorombrellomj@mail.nih.gov
    **Brooke Boyd, B.S.**Postbaccalaureate Fellowbrooke.boyd@nih.gov
    **Sophia Chou, B.A.**Postbaccalaureate Fellowsophia.chou@nih.gov
    **Mariana Correia Marques, M.D.**Clinical Fellowmariana.correiamarques@nih.gov
    **Anthony Cruz**Biologistcruza2@mail.nih.gov
    **Michelle Millwood, BSN**Research Nurse Specialistmillwoodmr@mail.nih.gov
            
                                                Image & Media Gallery
              
            CC Grand Rounds: Adventures in Autoinflammatory Genetics
CC Grand Rounds: Adventures in Autoinflammatory Genetics
        ×
      Powerpoint slide showing image of a child with crutches.
        Adventures in Autoinflammatory Genetics: From Genetically Complex Syndromes to Mendelian Diseases: 1) Systemic Juvenile Idiopathic Arthritis: One Name, Many Faces and 2) The Deficiency of Adenosine Deaminase 2: A Master of Mimicry.Recorded: Wednesday, January 22, 2020, 12:00:00 PM.WATCH VIDEOCAST
    The Spectrum of Still’s Disease: Genetics and Overlap with Autoinflammatory Diseases
The Spectrum of Still’s Disease: Genetics and Overlap with Autoinflammatory Diseases
        ×
      Dr. Michael Ombrello discusses the genetics of Still’s disease, also known as systemic juvenile idiopathic arthritis (sJIA).
    Staff Photo 2017
Staff Photo 2017
        ×
      Staff Photo 2017
        
         Download High Res
    (367.56 KB)
    HLA imputation
HLA imputation
        ×
      This ribbon model depicts the systemic juvenile idiopathic arthritis-associated HLA-DRB1*11:01 molecule
        Systemic juvenile idiopathic arthritis is associated with HLA-DRB1*11 alleles. Class II HLA molecules are composed of an alpha (green) and beta (orange) chain that are folded together to make the mature protein. This ribbon model depicts the systemic juvenile idiopathic arthritis-associated HLA-DRB1*11:01 molecule, which has two defining features: a glutamate residue at position 58 (white) on the exterior surface of the molecule with its side-chain pointing away from the peptide-binding groove; and a combination of peptide-binding groove residues that is unique to HLA-DRB1*11 (shown in blue). The model was created from PDB ID code 3LQZ. Ombrello MJ et al. (2015) Proc Natl Acad Sci USA
    Protein Bound
Protein Bound
        ×
      This figure demonstrates a protein bound to a peptide antigen.
        **Behçet's disease risk residues cluster around MHC class I peptide binding groove**. In this model of the HLA-B*51:01:01 protein bound to a peptide antigen (green), risk residues at positions 67, 97, 116, and 152 are displayed in red. These residues collectively define the molecule's peptide binding specificity and tune its interaction with the killer immunoglobulin-like receptor (KIR) family of cytotoxicity receptors. [Ombrello MJ et al. (2014) Proc Natl Acad Sci USA.]
    LabTV Profile: Amanda Ombrello, M.D., and Michael Ombrello, M.D.
LabTV Profile: Amanda Ombrello, M.D., and Michael Ombrello, M.D.
        ×
      Dr. Ombrello describes his work in trying to cure systemic juvenile idiopathic arthritis.
    CC Grand Rounds: The Role of HLA in a Genetically Complex Autoinflammatory Disease
CC Grand Rounds: The Role of HLA in a Genetically Complex Autoinflammatory Disease
        ×
      Powerpoint slide showing microscope imagery.
        CC Grand Rounds: (1) Monogenic Autoinflammatory Diseases in Children: Disorders of Amplified Danger Sensing and Proinflammatory Cytokine Dysregulation (2) The Role of HLA in a Genetically Complex Autoinflammatory Disease: Intrigue on the Silk Route.Recorded: Wednesday, January 22, 2014, 12:00:00 PMNote that Dr. Ombrello is the second presenter, and begins at the 36th minute of the video.WATCH VIDEOCAST
            
                        
                                    Clinical Trials
              
              
            RecruitingNatural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related ConditionsClinicalTrials.gov Identifier: NCT03510442Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still s disease (AOSD). Their causes are unknown. Researchers want to learn more about these conditions. This includes genetic changes and environmental factors.
            
                                    Scientific Publications
              Selected Recent Publications
                  
      "Online survey of COVID-19 immunization and infection in patients with systemic juvenile idiopathic arthritis and adult-onset still's disease.".

    Marques MC, Paul S, Lake C, Bergeron LL, Sinha R, Peixoto L, Twilt M, Ombrello MJ
        

                    Pediatr Rheumatol Online J.
        
                    2023 Nov 21;
        
                    21(1).
        
                    doi: 10.1186/s12969-023-00911-x
                            PMID: 37990257
              PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.

    Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC, PLCG2-Immune Dysregulation Working Group, Mace E, Milner JD, Ombrello MJ
        

                    J Allergy Clin Immunol.
        
                    2024 Jan;
        
                    153(1).
        
                    doi: 10.1016/j.jaci.2023.08.036
                            PMID: 37769878
              Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles.

    Saper VE, Ombrello MJ, Tremoulet AH, Montero-Martin G, Prahalad S, Canna S, Shimizu C, Deutsch G, Tan SY, Remmers EF, Monos D, Hahn T, Phadke OK, Cassidy E, Ferguson I, Mallajosyula V, Xu J, Rosa Duque JS, Chua GT, Ghosh D, Szymanski AM, Rubin D, Burns JC, Tian L, Fernandez-Vina MA, Mellins ED, Hollenbach JA, Drug Hypersensitivity Consortium, INCHARGE Consortium
        

                    Ann Rheum Dis.
        
                    2022 Mar;
        
                    81(3).
        
                    doi: 10.1136/annrheumdis-2021-220578
                            PMID: 34789453
              A Cysteine Variant at an Allosteric Site Alters MIF Dynamics and Biological Function in Homo- and Heterotrimeric Assemblies.

    Skeens E, Pantouris G, Shah D, Manjula R, Ombrello MJ, Maluf NK, Bhandari V, Lisi GP, Lolis EJ
        

                    Front Mol Biosci.
        
                    2022;
        
                    9().
        
                    doi: 10.3389/fmolb.2022.783669
                            PMID: 35252348
              2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis.

    Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
        

                    Arthritis Rheumatol.
        
                    2022 Apr;
        
                    74(4).
        
                    doi: 10.1002/art.42037
                            PMID: 35233993
              2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Recommendations for Nonpharmacologic Therapies, Medication Monitoring, Immunizations, and Imaging.

    Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
        

                    Arthritis Care Res (Hoboken).
        
                    2022 Apr;
        
                    74(4).
        
                    doi: 10.1002/acr.24839
                            PMID: 35233989
              2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis.

    Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
        

                    Arthritis Care Res (Hoboken).
        
                    2022 Apr;
        
                    74(4).
        
                    doi: 10.1002/acr.24853
                            PMID: 35233986
              2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Recommendations for Nonpharmacologic Therapies, Medication Monitoring, Immunizations, and Imaging.

    Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
        

                    Arthritis Rheumatol.
        
                    2022 Apr;
        
                    74(4).
        
                    doi: 10.1002/art.42036
                            PMID: 35233961
              Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles.

    Saper VE, Ombrello MJ, Tremoulet AH, Montero-Martin G, Prahalad S, Canna S, Shimizu C, Deutsch G, Tan SY, Remmers EF, Monos D, Hahn T, Phadke OK, Cassidy E, Ferguson I, Mallajosyula V, Xu J, Rosa Duque JS, Chua GT, Ghosh D, Szymanski AM, Rubin D, Burns JC, Tian L, Fernandez-Vina MA, Mellins ED, Hollenbach JA, Drug Hypersensitivity Consortium, INCHARGE Consortium
        

                    Ann Rheum Dis.
        
                    2022 Mar;
        
                    81(3).
        
                    doi: 10.1136/annrheumdis-2021-220578
                            PMID: 34789453
              COVID-19 and cytokine storm syndrome: are there lessons from macrophage activation syndrome?

    Ombrello MJ, Schulert GS
        

                    Transl Res.
        
                    2021 Jun;
        
                    232().
        
                    doi: 10.1016/j.trsl.2021.03.002
                            PMID: 33684592
              Elevated serum gasdermin D N-terminal implicates monocyte and macrophage pyroptosis in adult-onset Still's disease.

    Nagai H, Kirino Y, Nakano H, Kunishita Y, Henmi R, Szymanski AM, Yoshimi R, Ombrello MJ, Nakajima H
        

                    Rheumatology (Oxford).
        
                    2021 Aug 2;
        
                    60(8).
        
                    doi: 10.1093/rheumatology/keaa814
                            PMID: 33550379
              Clinical characteristics and comorbidities in adult-onset Still's disease using a large US administrative claims database.

    Lenert A, Oh G, Ombrello MJ, Kim S
        

                    Rheumatology (Oxford).
        
                    2020 Jul 1;
        
                    59(7).
        
                    doi: 10.1093/rheumatology/kez622
                            PMID: 31965185
              2019 American College of Rheumatology/Arthritis Foundation Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Non-Systemic Polyarthritis, Sacroiliitis, and Enthesitis.

    Ringold S, Angeles-Han ST, Beukelman T, Lovell D, Cuello CA, Becker ML, Colbert RA, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Horonjeff J, Nigrovic PA, Ombrello MJ, Passo MH, Stoll ML, Rabinovich CE, Schneider R, Halyabar O, Hays K, Shah AA, Sullivan N, Szymanski AM, Turgunbaev M, Turner A, Reston J
        

                    Arthritis Rheumatol.
        
                    2019 Jun;
        
                    71(6).
        
                    doi: 10.1002/art.40884
                            PMID: 31021537
              2019 American College of Rheumatology/Arthritis Foundation Guideline for the Screening, Monitoring, and Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis.

    Angeles-Han ST, Ringold S, Beukelman T, Lovell D, Cuello CA, Becker ML, Colbert RA, Feldman BM, Holland GN, Ferguson PJ, Gewanter H, Guzman J, Horonjeff J, Nigrovic PA, Ombrello MJ, Passo MH, Stoll ML, Rabinovich CE, Sen HN, Schneider R, Halyabar O, Hays K, Shah AA, Sullivan N, Szymanski AM, Turgunbaev M, Turner A, Reston J
        

                    Arthritis Rheumatol.
        
                    2019 Jun;
        
                    71(6).
        
                    doi: 10.1002/art.40885
                            PMID: 31021511
              IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.

    Arthur VL, Shuldiner E, Remmers EF, Hinks A, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Oliveira S, Yeung RSM, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rösen-Wolff A, Minden K, Szymanski AM, INCHARGE Consortium, Thomson W, Kastner DL, Woo P, Ombrello MJ
        

                    Arthritis Rheumatol.
        
                    2018 Aug;
        
                    70(8).
        
                    doi: 10.1002/art.40498
                            PMID: 29609200
              Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

    Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W
        

                    Ann Rheum Dis.
        
                    2017 May;
        
                    76(5).
        
                    doi: 10.1136/annrheumdis-2016-210324
                            PMID: 27927641
                
                                Key Publications
                  
            IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.Arthur VL, Shuldiner E, Remmers EF, Hinks A, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Oliveira S, Yeung RSM, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rösen-Wolff A, Minden K, Szymanski AM, INCHARGE Consortium., Thomson W, Kastner DL, Woo P, Ombrello MJArthritis Rheumatol.2018 Aug;70(8).doi: 10.1002/art.40498PMID: 29609200Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group., Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson WAnn Rheum Dis.2017 May;76(5).doi: 10.1136/annrheumdis-2016-210324PMID: 27927641HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group., Childhood Arthritis Prospective Study (CAPS) Group., Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators., Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group., Biologically Based Outcome Predictors in JIA (BBOP) Group., de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P, International Childhood Arthritis Genetics (INCHARGE) Consortium.Proc Natl Acad Sci U S A.2015 Dec 29;112(52).doi: 10.1073/pnas.1520779112PMID: 26598658Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity.Ombrello MJ, Kirino Y, de Bakker PI, Gül A, Kastner DL, Remmers EFProc Natl Acad Sci U S A.2014 Jun 17;111(24).doi: 10.1073/pnas.1406575111PMID: 24821759Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JDN Engl J Med.2012 Jan 26;366(4).doi: 10.1056/NEJMoa1102140PMID: 22236196Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.Remmers EF, Cosan F, Kirino Y, Ombrello MJ, Abaci N, Satorius C, Le JM, Yang B, Korman BD, Cakiris A, Aglar O, Emrence Z, Azakli H, Ustek D, Tugal-Tutkun I, Akman-Demir G, Chen W, Amos CI, Dizon MB, Kose AA, Azizlerli G, Erer B, Brand OJ, Kaklamani VG, Kaklamanis P, Ben-Chetrit E, Stanford M, Fortune F, Ghabra M, Ollier WE, Cho YH, Bang D, O'Shea J, Wallace GR, Gadina M, Kastner DL, Gül ANat Genet.2010 Aug;42(8).doi: 10.1038/ng.625PMID: 20622878 
                            See all Pubications on PubMed
            
                                    News & Highlights
              
            Announcement | April 4, 2024
NIAMS' Dr. Michael J. Ombrello Interviewed by NIH Speaking of Science Podcast on Rare Inflammatory Disease

Read More
    Featured | January 31, 2023
NIAMS’ Michael Ombrello’s Research Focus of Recent Patient Essay
Research from NIAMS’ Michael Ombrello is a focus of a recent essay in The New Yorker: "Nobody Has My Condition But Me," by Beverly Gage.
Read More
    NIAMS-Related Article | January 13, 2022
Genetic Sequencing Solves Drug Reaction Mystery
A researcher from Stanford University asked IRP investigator Michael Ombrello, M.D., to help her team follow a new lead in the mystery of why some patients with a rare inflammatory condition called Still’s disease were coming down with a life-threatening lung ailment.
Read More
    NIH MedlinePlus | September 7, 2021
New Research Strives to Understand Juvenile Arthritis

Read More



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