Genetics of Rare Autoimmune Diseases

Javier Martin is Professor of Human Genetics at the Instituto de Parasitologia y Biomedicina, Spanish National Research Council (CSIC) belonging to the Spanish Ministry of Science and Innovation. He trained at the Medical School, University of Granada (1996-1982), PhD in Immunology, Department of Immunology Hospital Virgen de las Nieves Granada (1983-1987) and Postdoctoral training, Dpt. Immunology, Mayo Clinic, Rochester, MN,USA (1987-1990). His research interest is the study of the genetic basis of complex traits and common diseases, with a special focus on human autoimmune diseases with rheumatic component. We aim at identifying novel disease loci and provide functional and clinical relevance for Systemic Sclerosis, Rheumatoid Arthritis and Giant Cell Arteritis through genome-wide association studies (GWAS) and next generation sequencing (NGS) approaches. He is the author of more than 500 scientific publications, and Principal Investigator of 25 national and international grants. F. David Carmona is a "Ramón y Cajal" researcher of the Department of Genetics and the Institute of Biotechnology of the University of Granada, Spain. Although his scientific career has been relatively multidisciplinary, Genetics has been always a common topic in his research. He obtained his PhD at the Department of Genetics of the University of Granada. Afterwards, he did a first postdoc in the "Institute of Medical Sciences" of the University of Aberdeen (UK). From 2010 to 2016, he worked at the "Institute of Parasitology and Biomedicine López-Neyra" (CSIC, Spain) in Javier Martin's group. He was mostly motivated by the study of the genetic basis of complex diseases, especially vasculitides. In this regard, he was directly involved in the recent publications of the two first large-scale genetic analyses on giant cell arteritis. Currently, he is PI of a research grant of the Spanish Ministry of Science and Innovation aimed at unravelling the genetic component of non-obstructive azoospermia. He has published more than 50 papers in JRC journals.

Preface.- I Connective tissue diseases.- 1 Systemic lupus erythematosus (Possible contributors: Maria Teruel & Marta Alarcón).- 2 Systemic sclerosis (Possible contributors: Elena Lopez-Isac & Marialbert Acosta).- 3 Behçet's disease (Possible contributors: Lourdes Ortiz & Francisca Gonzalez-Ecribano).- 4 Sjogren's síndrome (Possible contributors: Pers JO, Renaudineau Y. & Xavier Marriet).- 5 Polymiositis/Dermatomyositis (Possible contributors: Ana Márquez & Albert Selva).- II Autoimmune Vasculitis.- 6 ANCA-associated Vasculitis (Possible contributors: Augusto Vaglio).- 7 Giant Cell Arteritis (Possible contributors: F. David Carmona & Miguel Ángel Gónzalez-Gay).- 8 Takayasu's Arteritis (Possible contributors: Amr H. Sawalha).- 9 Kawasaki's Disease (Possible contributors: David Burgner).- III Gastrointestinal and Liver/hepatic Autoimmune Conditions.- 10 Primary Biliary Cirrhosis, Sclerosing Cholangitis, and Autoimmune Hepatitis (Possible contributors: G.J. Webb & G.M. Hirschfield).- IV Central and Peripheral Nervous System.- 11 Multiple Sclerosis (Possible contributors: Antonio Alcina & Fuencisla Matesanz).- 12 Myastenia Gravis (Possible contributors: Güher Saruhan Direskeneli).- V Shared Gentetic Component.- 13 Common Genetic Component in Autoimmunity (Possible contributors: Alexandra Sasha).- Subject Index.