Josep Gamez

Josep Gamez has worked in the Neurology Department at the Vall d’Hebron University Hospital in Barcelona since 1989 until his retirement, where his clinical work focuses on treatment of neuromuscular disorders (www.vhir.org, and https://www.neuromuscularbarcelona.org). He has been the Coordinator of the Hospital’s Neuromuscular Disorders Clinic and Director of the Peripheral Nervous System Laboratory at the Vall d’Hebron Research Institute since 2008. He has now retired but continues to colaborate with the ERN EURO-NMD. His main research interests are genetic aspects of neuromuscular disorders, and factors modifying clinical expression in the familial forms of ALS. His other area of interest is genetic factors in autoimmune myasthenia gravis. He has reported a new autosomal dominant form of limb girdle muscle dystrophy linked to chromosome 7q32.1-32.2 (LGMD 1F) OMIM %608423. The gene responsible (TNPO3) has recently been identified. He has authored over a hundred peer-reviewed publications and book chapters. He was Principal Investigator or Coordinator for various grants and clinical trials, including FIS (Fondo de Investigación Sanitarias), Marató-TV3, NIH (National Institutes of Health, U.S.A.), FIPSE and SAF. These grants are for studies of rare disorders such as ALS, myasthenia gravis, PROMM or Myotonic Dystrophy Type 2, Steiner’s disease, familial amyloid polyneuropathy (Corino-Andrade’s disease), mitochondrial disorders, Huntington’s disease and chronic inflammatory demyelinating polyneuropathy (CIDP).