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.
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.
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