New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropathies Charcot-Marie-Tooth.
Massive parallel sequencing of genes related to infantile epilepsies and epileptic encephalopathies for diagnostics of epilepsy in Czech patients.
PhD, Neurosciences, Charles University in Prague, Czech Republic
Sep 2001 – Jun 2007
MD, MD Study Programme - General Medicine , Charles University in Prague Czech Republic
Thesis: Analysis of the LMNA gene and the SH3TC2 gene among Czech patients with hereditary neuropathy Charcot-Marie-Tooth type 1 and 2 (awarded Cena Josefa Hlavky, 2012)
Jan 2009 – Dec 2011
Researcher/ Institute of Hematology and Blood Transfusion, Department of Molecular Genetics)
Sep 2007 – present
Research fellow/ Charles University in Prague, Second Faculty of Medicine, Department of Paediatric Neurology
Principal investigator for the grant project: Whole genome sequencing and RNA sequencing - a tool for elucidation of the causes of rare types of hereditary neuropathies. (Awarded by the Czech Ministry of Health, No. AZV 16-30206)
PhD students: Two PhD students successfully defended their thesis.
Publications / 5 most relevant
1. Lassuthova P, Rebelo AP, Ravenscroft G, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. American Journal of Human Genetics. 2018;102(3):505-514.
2. Lassuthova P, Brozkova DS, Krutova M, et al. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. Brain. 2016;139.
11. Lassuthova P, Brozkova DS, Krutova M, et al. Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. Orphanet Journal of Rare Diseases. 2016;11.
12. Brozkova DS, Deconinck T, Griffin LB, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain. 2015;138:2161-2172.
15. Lassuthova P, Brozkova DS, Krutova M, et al. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. Neurogenetics. 2015;16(1):43-54.