Inherited peripheral neuropathies
As part of an international collaboration with Department of Molecular Genetics, VIB, Belgium (Prof. Christine Van Broeckhoven), Centre Saint Paul, Hôpital Henri Gastaut, Marseille, France (Prof. P. Genton), Friedrich Baur Institute and Department of Neurology, Ludwig Maximilians University, Munich, Germany (Prof. Hans Lochmuller) and Saint-Louis University, USA, (Prof. Florian Thomas), the team was involved in mapping of genetic loci and contributed to the identification of several genes (GARS, CTDP1, HSP22, YARS), responsible for inherited peripheral neuropathies. It also identified and reported numerous novel mutations in genes causing Charcot-Marie-Tooth (CMT) disease, Wilson’s disease, epilepsy, Occulo-Pharyngeal Muscular Dystrophy and others. The group participated in important genotype-phenotype correlation studies for lipopolysaccharide-induced tumor necrosis factor-alpha (LITAF/SIPMLE) in CMT1C, neurofilament light chain (NEFL) in CMT1F, BSCL2 gene in Silver syndrome and Mitofusin 2 (MFN2) in CMT2 and CMT6. The team members, in collaboration with Prof. L. Kalaydjieva, Western Australian Institute for Medical Research, initiated pioneering studies aiming at characterizing the molecular basis of several neuropathies and epilepsy syndromes in the Bulgarian Roma population, that were extended across Europe.