Home RESEARCH IMMUNITY, INFECTION & INFLAMMATION AUTOIMMUNITY & NEUROSCIENCES

Autoimmunity & Neurosciences


Members:

Principal Investigator:

Berta Martins da Silva

Berta Martins da Silva, PhD

PhD Researchers:

Alexandre Mendes
Ana Martins da Silva
António Marinho
António Martins da Silva
Alexandre Mendes, MD, PhD
Ana Martins da Silva, MD, PhD
António Marinho, MD, PhD
António Martins da Silva, MD, PhD




Bárbara Leal
Carlos Vasconcelos
Ernestina Santos
Isabel Almeida
Bárbara Leal, PhD
Carlos Vasconcelos, MD, PhD
Ernestina Santos, MD, PhD
Isabel Almeida, MD, PhD




Ivone Silva
Manuel Melo Pires
Paulo Pinho e Costa
Tiago Torres
Ivone Silva, MD, PhD
Manuel Melo Pires, MD, PhD
Paulo Pinho e Costa, MD, PhD
Tiago Torres, MD, PhD


PhD Students:


Henrique Reguengo
João Chaves
Raquel Faria
Betânia Ferreira, MD
Henrique Reguengo, MSc
João Chaves, MD
Raquel Faria, MD


Other collaborators:

João Araújo Correia
José Carlos Oliveira

Paulo Barbosa

João Araújo Correia, MD
José Carlos Oliveira, MD
Paulo Barbosa, MD



Introduction:

The AI&NS is a multidisciplinary research group that gathers professionals from different scientific areas and disciplines, such as clinical immunology, immunogenetics, neurology, neurophysiology, neuropsychology, neuroradiology, neurosurgery, and pathology.

This group was studying the heterogeneity of complex inflammation-associated diseases to uncover new biomarkers for disease susceptibility, progression, and treatment response. They have been gathering molecular and clinical data associated with disease physiopathology and progression of such diseases studying large cohorts of patients. The aim was to contribute to a better classification of these diseases and subsequent earlier and more effective treatments.

The AI&NS group was able to show the contribution of genetic – HLA, vitamin D receptors - and epigenetic – microRNA’s - factors with clinical subgroups, severity and outcomes. This has been explored in Systemic Lupus Erythematosus (SLE), Multiple Sclerosis (MS), Behçet's Disease (BD), Sleep (Hyersomnolence) Disorders, and Epilepsy (Mesial Temporal Lobe Epilepsy – MTLE).

Differently from “Classical” Autoimmune/Inflammatory Diseases, Sleep Disorders cursing with daytime hypersomnolence, namely narcolepsy type 1 (N1), type 2 (N2) and Idiopathic Hypersomnia (IH) are, many times, difficult to be distinguished on the course of the disease. They demonstrated that genetic identification of different HLA alleles was able to help on such distinction.

Other, “Non-Classical” Autoimmune/Inflammatory Disease is Mesial Temporal Lobe Epilepsy in which its resistance to treatment has been associated to CNS inflammation. The AI&NS group demonstrated that purinergic –inflammatory axis is dysregulated in this syndrome contributing to seizure propagation and to a poor response to pharmacological treatment.


Aims:

The primary research goals are:

  • To identify prognostic and predictive biomarkers of autoimmune and neurodegenerative diseases, with an emphasis on genetic, immunological and neurobehavioral factors, through the investigation of common etiological and pathophysiological mechanisms.

  • To provide new markers of disease risk and disease progression, in order to improve preventive care and therapeutic strategies. 

  • To identify predictors of clinical variability and treatment outcomes in Autoimmune, Neurodegenerative and Autoimmune/ Neurodegenerative diseases.



Highlighted publications:

    1. Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, Acevedo-Vásquez EM, Alarcón GS, Babini AM, Baca V, Bengtsson AA, Berbotto GA, Bijl M, Brown EE, Brunner HI, Cardiel MH, Catoggio L, Cervera R, Cucho-Venegas JM, Dahlqvist SR, D'Alfonso S, Da Silva BM, de la Rúa Figueroa I, Doria A, Edberg JC, Endreffy E, Esquivel-Valerio JA, Fortin PR, Freedman BI, Frostegård J, García MA, de la Torre IG, Gilkeson GS, Gladman DD, Gunnarsson I, Guthridge JM, Huggins JL, James JA, Kallenberg CGM, Kamen DL, Karp DR, Kaufman KM, Kottyan LC, Kovács L, Laustrup H, Lauwerys BR, Li QZ, Maradiaga-Ceceña MA, Martín J, McCune JM, McWilliams DR, Merrill JT, Miranda P, Moctezuma JF, Nath SK, Niewold TB, Orozco L, Ortego-Centeno N, Petri M, Pineau CA, Pons-Estel BA, Pope J, Raj P, Ramsey-Goldman R, Reveille JD, Russell LP, Sabio JM, Aguilar-Salinas CA, Scherbarth HR, Scorza R, Seldin MF, Sjöwall C, Svenungsson E, Thompson SD, Toloza SMA, Truedsson L, Tusié-Luna T, Vasconcelos C, Vilá LM, Wallace DJ, Weisman MH, Wither JE, Bhangale T, Oksenberg JR, Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob CO, Sivils KL, Tsao BP, Schanberg LE, Behrens TW, Silverman ED, Alarcón-Riquelme ME, Kimberly RP, Harley JB, Wakeland EK, Graham RR, Gaffney PM, Vyse TJ. Transancestral mapping and genetic load in systemic lupus erythematosus.  Nat Commun. 2017 Jul 17;8:16021. doi: 10.1038/ncomms16021.

    2. Nour MM, Nakashima I, Coutinho E, Woodhall M, Sousa F, Revis J, Takai Y, George J, Kitley J, Santos ME, Nour JM, Cheng F, Kuroda H, Misu T, Martins-da-Silva A, DeLuca GC, Vincent A, Palace J, Waters P, Fujihara K, Leite MI. Pregnancy outcomes in Aquaporin 4- positive neuromyelitis optica spectrum disorder; Neurology. 2016 Jan 5;86(1):79-87. Epub 2015 Nov 18

    3. Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6.



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