Rare Diseases and Orphan Drugs

Biography

Biography: Issac Tunez

Abstract

Department of Biochemistry and Molecular Biology, Faculty of Medicine and Nurse, Maimonides Institute of Biomedical Research of Cordoba (IMIBIC), Cordoba – 14004, Spain Rare disease are a group of degenerative processes with genetic basis that can affect different organs, systems and structures of the human body, altering the normal development of the patient’s life and limiting their quality of life and in many cases shortened significantly their hope life. Four guide axes should be to enhance and intensify the study of etiology and pathophysiology for understanding of the mechanisms involved and to design specific therapeutic strategies improving the quality of life and life expectancy of these patients. These movements would be: i) to establish networks and synergies that allows interaction between groups working in these disease; ii) to design frameworks specific funding for rare diseases by Public Administration; iii) to design strategies that encourage the direct or indirect involvement of the Pharmaceutical Industry; and iv) to involve patients and families Societies or Foundations. In this line, a new strategy for treatment of rare diseases, and specifically Huntington’s disease, could be repetitive transcranial magnetic stimulation (rTMS). In recent decades data indicate the possibility use of rTMS on Huntington’s disease. This tool show beneficial effects on choreiform disorder. On the other hand, experimental studies from our group have found that TMS produces protective effects on behavior, oxidative and cell damage and neurogenesis in a 3-nitropropionic acid-induced Huntington’s disease-like model. In brief, rTMS is an important therapeutical strategy for Huntington’s disease and others rare degenerative diseases such as amyotrophic lateral sclerosis (ALS) and Duchenne muscular dystrophy, as well as for neurodegenerative disease as Parkinson’s disease, Alzheimer’s disease or multiple sclerosis.