{"id":43712,"date":"2024-04-09T10:45:04","date_gmt":"2024-04-09T07:45:04","guid":{"rendered":"https:\/\/mu-sofia.bg\/international-activities\/bnrrp\/research-groups\/neurogenomics\/"},"modified":"2024-04-09T10:45:29","modified_gmt":"2024-04-09T07:45:29","slug":"neurogenomics","status":"publish","type":"page","link":"https:\/\/mu-sofia.bg\/en\/international-activities\/bnrrp\/research-groups\/neurogenomics\/","title":{"rendered":"Neurogenomics"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"43712\" class=\"elementor elementor-43712 elementor-43217\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-415d1b3 elementor-section-stretched elementor-section-full_width elementor-section-height-min-height elementor-section-height-default elementor-section-items-middle\" data-id=\"415d1b3\" data-element_type=\"section\" data-settings=\"{&quot;stretch_section&quot;:&quot;section-stretched&quot;,&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-9ae1b84\" data-id=\"9ae1b84\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-1795699 elementor-widget elementor-widget-heading\" data-id=\"1795699\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">RESEARCH UNIVERSITY<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-1343273 elementor-nav-menu__align-center elementor-nav-menu--dropdown-mobile 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class=\"elementor-item\">About<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-42821\"><a href=\"https:\/\/mu-sofia.bg\/mezhdunarodna-dejnost\/npvu\/nauchni-grupi\/\" class=\"elementor-item\">Research groups<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-42830\"><a href=\"https:\/\/mu-sofia.bg\/mezhdunarodna-dejnost\/npvu\/kontakti\/\" class=\"elementor-item\">Contacts<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\t\t\t\t\t<div class=\"elementor-menu-toggle\" role=\"button\" tabindex=\"0\" aria-label=\"Menu Toggle\" aria-expanded=\"false\">\n\t\t\t<i aria-hidden=\"true\" role=\"presentation\" class=\"elementor-menu-toggle__icon--open eicon-menu-bar\"><\/i><i aria-hidden=\"true\" role=\"presentation\" class=\"elementor-menu-toggle__icon--close eicon-close\"><\/i>\t\t<\/div>\n\t\t\t\t\t<nav class=\"elementor-nav-menu--dropdown elementor-nav-menu__container\" aria-hidden=\"true\">\n\t\t\t\t<ul id=\"menu-2-1343273\" class=\"elementor-nav-menu\"><li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-42640\"><a href=\"https:\/\/mu-sofia.bg\/mezhdunarodna-dejnost\/npvu\/za-proekta\/\" class=\"elementor-item\" tabindex=\"-1\">About<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-42821\"><a href=\"https:\/\/mu-sofia.bg\/mezhdunarodna-dejnost\/npvu\/nauchni-grupi\/\" class=\"elementor-item\" tabindex=\"-1\">Research groups<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-42830\"><a href=\"https:\/\/mu-sofia.bg\/mezhdunarodna-dejnost\/npvu\/kontakti\/\" class=\"elementor-item\" tabindex=\"-1\">Contacts<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-7e82454 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"7e82454\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-a36e842\" data-id=\"a36e842\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-7276455 elementor-widget elementor-widget-heading\" data-id=\"7276455\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">research group<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5114a50 elementor-widget elementor-widget-heading\" data-id=\"5114a50\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Neurogenomics<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-20c25f7 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"20c25f7\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-extended\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-974286f\" data-id=\"974286f\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-5f0193d elementor-widget elementor-widget-heading\" data-id=\"5f0193d\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Main research area of the group<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b3a544f elementor-widget elementor-widget-text-editor\" data-id=\"b3a544f\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Rare Neurological Disorders, Molecular Neurology, Clinical Neurogenetics, Personalized Medicine<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-29aefb8 elementor-widget elementor-widget-heading\" data-id=\"29aefb8\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Leading researchers<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-cf511ea elementor-widget elementor-widget-text-editor\" data-id=\"cf511ea\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>Prof. Ivailo Tournev, M.D., D.Sc.<\/strong> &#8211; Department of Neurology, Medical<br \/>\nFaculty, MU &#8211; Sofia<\/p>\n<p><strong>Prof. Dr. Albena Jordanova, Ph.D<\/strong> &#8211; Molecular Medicine Centre,<br \/>\nDepartment of Medical Chemistry and Biochemistry, Medical Faculty, MU \u2013 Sofia<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-a886189\" data-id=\"a886189\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-fe08a93 elementor-widget elementor-widget-heading\" data-id=\"fe08a93\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Members of the research team:<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-bf96143 elementor-widget elementor-widget-text-editor\" data-id=\"bf96143\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul>\n<li>Prof. Ivan Litvinenko MD, Ph.D;<\/li>\n<li>Assoc. Prof. Teodora Chamova, MD, PhD;<\/li>\n<li>Assoc. Prof. Daniela Avdjieva-Tsavella, MD, PhD;<\/li>\n<li>Assoc. Prof. Mariana Gospodinova, MD, PhD;<\/li>\n<li>Chief Assist. Prof. Sashka Zhelyazkova, MD, PhD;<\/li>\n<li>Chief Assist. Prof. Genoveva Tacheva, MD, PhD;<\/li>\n<li>Chief Assis. Prof. Kristina Kastreva, MD, PhD;<\/li>\n<li>Assist.Prof. Plamen Antimov, MD, PhD;<\/li>\n<li>Kunka Kamenarova, PhD;<\/li>\n<li>Nevyana Ivanova, PhD;<\/li>\n<li>Valentina Peycheva, PhD<\/li>\n<\/ul>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3bd45c8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3bd45c8\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-extended\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-e7bf1c3\" data-id=\"e7bf1c3\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-c9bfe82 elementor-widget elementor-widget-heading\" data-id=\"c9bfe82\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Research goals<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-cbedafc elementor-widget elementor-widget-text-editor\" data-id=\"cbedafc\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>G1. Recruiting, biobanking and deep clinical phenotyping in presymptomatic and symptomatic RND patients. Our special emphasis will be the enrolment of affected individuals with unique (ultra) rare neurological phenotypes of unknown genetic basis, molecularly undiagnosed patients with myopathies,<br \/>\namyotrophic lateral sclerosis and inherited neuropathies, ataxias and spastic paraplegias, neurodevelopmental disorders and complex neurological phenotypes, as well as carriers of TTR p.Glu89Gln causing inherited amyloidosis. We aim to obtain biomaterials from the study participants,<br \/>\nstore them and make them available for genomic, transcriptomic and biomarker studies. Furthermore, we plan to longitudinally follow the patients and integrate their clinical findings into database of Biobank of Molecular Medicine Centre and patient registry of Medical University-Sofia, and existing international registries.<\/p>\n<p>G2. Genomics studies to increase the number of known gene loci for the most heterogeneous RND groups. We will apply the latest advances in the next-generation sequencing and bioinformatics technologies. Both whole exome (WES) and whole genome (WGS) sequencing will allow untargeted genetic analyses leading to identification of causal mutations, mostly single nucleotide variants (SNVs) and small indels. Due to the \u201cshort reads\u201d-nature of these technologies, however, it will be extremely challenging to detect large genomic rearrangements and nucleotide expansions\/contractions of repetitive regions that might account for the missing heritability in our RND cohorts. There is growing evidence that the extent and complexity of these \u2018structural variants\u2019 (SVs) have been immensely underestimated and that SVs could be a major player in disease pathogenesis. Therefore, in selected WES\/WGS-negative cases, we will apply long-read third-generation sequencing as a new powerful gene<br \/>\ndiscovery tool.<\/p>\n<p>G3. Elucidation of pathogenesis using transcriptomics and cell biological studies. Transcriptomics (deep RNAseq) will allow detecting quantitative differences in gene expression that will augment the genomics<br \/>\nstudies to identify promoter and enhancer variants, to validate the functional impact of SVs, and to point to misregulated cellular pathways. The differential expression analysis will be performed in patient cells, including fibroblasts, PBMCs or muscle\/nerve biopsy specimens. In specific cases, patient fibroblasts will be transdifferentiated into induced neurons (iNeurons) to account for tissue-specific effects. When the identified variants are in protein-coding gene candidates, we will also study protein expression using immunoblotting and immunostaining techniques.<\/p>\n<p>G4. Discovery of diagnostic and prognostic biomarkers for transthyretin amyloidosis (ATTR). The possibility to monitor the onset of ATTR is of particular importance for the Bulgarian medical community. ATTR is a genetic polyneuropathy amenable to personalized therapy. Notably, it is substantially more common among Bulgarian patients, as compared to its European prevalence, making Bulgaria an endemic region with 360 patients from 130 families identified so far. Moreover, there is significant variability in phenotype expression among carriers of the TTR p.Glu89Gln. We will perform<br \/>\ntranscriptome analysis of 160 deeply phenotyped p.Glu89Gln carriers in order to identify molecular signatures that have the potential to become early diagnostic and prognostic biomarkers for this disease.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-ce24479\" data-id=\"ce24479\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>RESEARCH UNIVERSITY research group Neurogenomics Main research area of the group Rare Neurological Disorders, Molecular Neurology, Clinical Neurogenetics, Personalized Medicine Leading researchers Prof. Ivailo Tournev, M.D., D.Sc. &#8211; Department of Neurology, Medical Faculty, MU &#8211; Sofia Prof. Dr. Albena Jordanova, Ph.D &#8211; Molecular Medicine Centre, Department of Medical Chemistry and Biochemistry, Medical Faculty, MU \u2013 [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":43641,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"footnotes":""},"class_list":["post-43712","page","type-page","status-publish","hentry","wpbf-post"],"_links":{"self":[{"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/pages\/43712","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/comments?post=43712"}],"version-history":[{"count":0,"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/pages\/43712\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/pages\/43641"}],"wp:attachment":[{"href":"https:\/\/mu-sofia.bg\/en\/wp-json\/wp\/v2\/media?parent=43712"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}