The research focus of the Neurogenetics group is on molecular genetics of neurological and neuromuscular disorders. Over the years the research team has gained expertise and international reputation in conducting extensive clinical, molecular genetic and phenotype-genotype correlation studies in Bulgarian patients and families with inherited peripheral neuropathies, inherited epilepsies, inherited spastic paraplegias, congenital myasthenic syndromes and amyotrophic lateral sclerosis. The group has invested in building expertise and scientific network with all neurological and paediatrics departments across the country. The mutual collaboration between molecular biologists and clinical geneticists has shaped its scientific profile, facilitating patient and sample collection and improved phenotyping including clinical and biological endophenotypes. A major emphasis of the group is systematic collection of samples from well characterised patients and their closest relatives. These patient cohorts are ideal for large scale genetic studies aiming at identifying disease genes using positional cloning strategy and predisposing risk factors using association studies.
The group has already made several major contributions to the molecular biology of inherited peripheral neuropathies, congenital myasthenic syndromes and inherited epilepsies.
Since 2008, the Neurogenetics group is member of the European network of excellence in neuromuscular disorders TREAT-NMD. It received requests for training in molecular pathology of neuromuscular disorders from Serbia and India. The group is performing active networking with patients’ and non-governmental organizations and is popularizing the current achievements of biomedical research in combating the incurable genetic disorders among the general public. The group members were among the main organizers of the 2008 annual meeting of the European Alliance of Muscular Dystrophy Associations (EAM.D.A), which took place in Sofia, Bulgaria.
The on-going and future research projects of the neuromuscular diseases team are focused on:
Members of Neurogenetics group:
"Molecular genetic analysis of CDKL5 and PCDH19 genes in girls with epylepsy", 2011-2012.
"Molecular genetic analysis of SLC2A1 gene and phenotype-genotype correlations in patients with absanse epilepsy of early development", 2011-2012.
"Molecular characteristics of familial amyloid polyneuropathy in Bulgaria", 2011-2012.
“Contemporary approaches for unravelling the genetic basis of epilepsy”, 2009-2011.
“Study of candidate genes in linkage region for partial epilepsy”, 2009-2010.
“Genetic, neuropsychological and vascular markers for early detection of Alzheimer’s Disease”, 2009-2010.
“Molecular biology of tyrosyl-tRNA synthetase (YARS) mutations associated with peripheral neuropathy”, 2008-2012.
“Genetic and phenotype study of partial epilepsies in Gypsies”, 2007-2010.
“Molecular-genetic analysis of SCN1A gene and phenotype- genotype correlations in patients with generalized epilepsy with febrile seizures plus (GEFS+)”, 2007-2008.
“Molecular Genetics of Dominant Intermediate Charcot-Marie-Tooth Neuropathies (DI-CMT)”, 2006-2007.
“Neurocognitive and genetic markers for early diagnosis of Alzheimer’s disease”, 2005-2006.
“Identification of the gene for dominant intermediate Charcot-Marie-Tooth neuropathy type C (DI-CMT C)”, 2004-2006.
“Genotype – phenotype correlations and identification of the gene for dominant intermediate Charcot-Marie-Tooth neuropathy type C (DI-CMT C)”, 2003-2006.