Summary

Iago Pinal-Fernandez, M.D., Ph.D. is a Staff Clinician in the Muscle Disease Unit of the NIAMS/NIH. He joined in 2015 as a Visiting Fellow, then transitioned to a Clinical Fellowship before becoming a Staff Clinician in 2021. Dr. Pinal-Fernandez is also an Adjunct Assistant Professor in the Department of Neurology at Johns Hopkins University School of Medicine and an Assistant Professor in the Faculty of Computer Science, Multimedia and Telecommunications at the Open University of Catalonia.

Dr. Pinal-Fernandez graduated from the Santiago de Compostela School of Medicine and completed his 5-year Internal Medicine residency in the Vall d’Hebron hospital in Barcelona. He has two doctoral degrees, the first in medicine and the second in bioinformatics, two master's degrees, one in molecular medicine and the other in research methodology, as well as a bachelor’s degree in computer engineering.

Research Statement

Dr. Pinal-Fernandez's research is focused on understanding the pathogenesis of inflammatory muscle diseases and on improving the diagnosis, prognosis, and treatment of patients with these conditions. To do so, he combines a variety of modalities of clinical and translational research. From a clinical perspective, he is involved in several natural history studies, and clinical trials to test novel treatments in patients with different types of myositis. Translationally, he is using bioinformatics and data science to understand inflammatory myositis by combining clinical, epidemiological, and molecular data.

Scientific Publications

Coexisting autoantibodies against transcription factor Sp4 are associated with decreased cancer risk in patients with dermatomyositis with anti-TIF1γ autoantibodies.

Hosono Y, Sie B, Pinal-Fernandez I, Pak K, Mecoli CA, Casal-Dominguez M, Warner BM, Kaplan MJ, Albayda J, Danoff S, Lloyd TE, Paik JJ, Tiniakou E, Aggarwal R, Oddis CV, Moghadam-Kia S, Carmona-Rivera C, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Christopher-Stine L, Larman HB, Mammen AL
Ann Rheum Dis.
2023 Feb;
82(2).
doi: 10.1136/ard-2022-222441
PMID: 36008132

Machine learning algorithms reveal unique gene expression profiles in muscle biopsies from patients with different types of myositis.

Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Miller FW, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Carrion-Ribas C, Paik JJ, Albayda J, Christopher-Stine L, Lloyd TE, Corse AM, Mammen AL
Ann Rheum Dis.
2020 Sep;
79(9).
doi: 10.1136/annrheumdis-2019-216599
PMID: 32546599

More prominent muscle involvement in patients with dermatomyositis with anti-Mi2 autoantibodies.

Pinal-Fernandez I, Mecoli CA, Casal-Dominguez M, Pak K, Hosono Y, Huapaya J, Huang W, Albayda J, Tiniakou E, Paik JJ, Johnson C, Danoff SK, Corse AM, Christopher-Stine L, Mammen AL
Neurology.
2019 Nov 5;
93(19).
doi: 10.1212/WNL.0000000000008443
PMID: 31594859

Identification of distinctive interferon gene signatures in different types of myositis.

Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Plotz P, Miller FW, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Paik J, Albayda J, Christopher-Stine L, Lloyd TE, Corse AM, Mammen AL
Neurology.
2019 Sep 17;
93(12).
doi: 10.1212/WNL.0000000000008128
PMID: 31434690

Anti-Ro52 autoantibodies are associated with interstitial lung disease and more severe disease in patients with juvenile myositis.

Sabbagh S, Pinal-Fernandez I, Kishi T, Targoff IN, Miller FW, Rider LG, Mammen AL, Childhood Myositis Heterogeneity Collaborative Study Group
Ann Rheum Dis.
2019 Jul;
78(7).
doi: 10.1136/annrheumdis-2018-215004
PMID: 31018961

Myositis Autoantigen Expression Correlates With Muscle Regeneration but Not Autoantibody Specificity.

Pinal-Fernandez I, Amici DR, Parks CA, Derfoul A, Casal-Dominguez M, Pak K, Yeker R, Plotz P, Milisenda JC, Grau-Junyent JM, Selva-O'Callaghan A, Paik JJ, Albayda J, Corse AM, Lloyd TE, Christopher-Stine L, Mammen AL
Arthritis Rheumatol.
2019 Aug;
71(8).
doi: 10.1002/art.40883
PMID: 30861336

Muscular and extramuscular features of myositis patients with anti-U1-RNP autoantibodies.

Casal-Dominguez M, Pinal-Fernandez I, Corse AM, Paik J, Albayda J, Casciola-Rosen L, Johnson C, Danoff SK, Christopher-Stine L, Tiniakou E, Mammen AL
Neurology.
2019 Mar 26;
92(13).
doi: 10.1212/WNL.0000000000007188
PMID: 30824556

Muscular and extramuscular clinical features of patients with anti-PM/Scl autoantibodies.

De Lorenzo R, Pinal-Fernandez I, Huang W, Albayda J, Tiniakou E, Johnson C, Milisenda JC, Casal-Dominguez M, Corse AM, Danoff SK, Christopher-Stine L, Paik JJ, Mammen AL
Neurology.
2018 Jun 5;
90(23).
doi: 10.1212/WNL.0000000000005638
PMID: 29728522

Anti-NT5C1A autoantibodies are associated with more severe disease in patients with juvenile myositis.

Yeker RM, Pinal-Fernandez I, Kishi T, Pak K, Targoff IN, Miller FW, Rider LG, Mammen AL, Childhood Myositis Heterogeneity Collaborative Study Group
Ann Rheum Dis.
2018 May;
77(5).
doi: 10.1136/annrheumdis-2017-212436
PMID: 29363513

Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis.

Pinal-Fernandez I, Ferrer-Fabregas B, Trallero-Araguas E, Balada E, Martínez MA, Milisenda JC, Aparicio-Español G, Labrador-Horrillo M, Garcia-Patos V, Grau-Junyent JM, Selva-O'Callaghan A
Rheumatology (Oxford).
2018 Feb 1;
57(2).
doi: 10.1093/rheumatology/kex413
PMID: 29149307

A longitudinal cohort study of the anti-synthetase syndrome: increased severity of interstitial lung disease in black patients and patients with anti-PL7 and anti-PL12 autoantibodies.

Pinal-Fernandez I, Casal-Dominguez M, Huapaya JA, Albayda J, Paik JJ, Johnson C, Silhan L, Christopher-Stine L, Mammen AL, Danoff SK
Rheumatology (Oxford).
2017 Jun 1;
56(6).
doi: 10.1093/rheumatology/kex021
PMID: 28339994

Antinuclear Matrix Protein 2 Autoantibodies and Edema, Muscle Disease, and Malignancy Risk in Dermatomyositis Patients.

Albayda J, Pinal-Fernandez I, Huang W, Parks C, Paik J, Casciola-Rosen L, Danoff SK, Johnson C, Christopher-Stine L, Mammen AL
Arthritis Care Res (Hoboken).
2017 Nov;
69(11).
doi: 10.1002/acr.23188
PMID: 28085235

More severe disease and slower recovery in younger patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase-associated autoimmune myopathy.

Tiniakou E, Pinal-Fernandez I, Lloyd TE, Albayda J, Paik J, Werner JL, Parks CA, Casciola-Rosen L, Christopher-Stine L, Mammen AL
Rheumatology (Oxford).
2017 May 1;
56(5).
doi: 10.1093/rheumatology/kew470
PMID: 28096458

Thigh muscle MRI in immune-mediated necrotising myopathy: extensive oedema, early muscle damage and role of anti-SRP autoantibodies as a marker of severity.

Pinal-Fernandez I, Casal-Dominguez M, Carrino JA, Lahouti AH, Basharat P, Albayda J, Paik JJ, Ahlawat S, Danoff SK, Lloyd TE, Mammen AL, Christopher-Stine L
Ann Rheum Dis.
2017 Apr;
76(4).
doi: 10.1136/annrheumdis-2016-210198
PMID: 27651398

Longitudinal Course of Disease in a Large Cohort of Myositis Patients With Autoantibodies Recognizing the Signal Recognition Particle.

Pinal-Fernandez I, Parks C, Werner JL, Albayda J, Paik J, Danoff SK, Casciola-Rosen L, Christopher-Stine L, Mammen AL
Arthritis Care Res (Hoboken).
2017 Feb;
69(2).
doi: 10.1002/acr.22920
PMID: 27111848

Education

Open University of Catalonia
Ph.D. in Bioinformatics (2020)

Autonomous University of Barcelona
Master of Research Methodology in Health Sciences (2015)

Autonomous University of Barcelona
Ph.D. in Medicine (2014)

Vall d’Hebron Hospital
Internal Medicine Residency (2014)

University of Santiago de Compostela
Master of Advanced Studies in Molecular Medicine (2010)

University of Santiago de Compostela
Medicine Degree (2008)

Experience

Muscle Disease Unit, NIAMS/NIH
Staff Clinician (2021-Present)

Department of Neurology, Johns Hopkins University School of Medicine
Adjunct Assistant Professor (2017-Present)

Faculty of Computer Science, Multimedia and Telecommunications, Open University of Catalonia
Assistant Professor  (2019-Present)

Muscle Disease Unit, NIAMS/NIH
Clinical Fellow (2018-2021)

Myositis Association
Research Fellow (2016-2018)

Muscle Disease Unit, NIAMS/NIH
Visiting Fellow (2015-2018)

Autoimmune Systemic Diseases Unit, Vall d’Hebron Research Institute
Postdoctoral Fellow (2015)

Myositis Center, Johns Hopkins Hospital
Research Fellow (2013)

Vall d’Hebron Hospital
Internal Medicine Resident (2009-2014)

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