Registration Number
0224U033230,
(0121U111585)
, R & D reports
Title
Determination of clinical, biochemical and genetic characteristics of patients with hereditary diseases of the nervous system from Ukraine to form the most effective strategy for early diagnosis and treatment
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Визначення клінічної, біохімічної та генетичної характеристики осіб зі спадковими захворюваннями нервової системи з України для формування найбільш ефективної стратегії ранньої діагностики та лікування
Head
Horovenko Nataliia Н., д.мед.н.
Registration Date
22-12-2024
Organization
State Institution "National Scientific Center "Institute of Cardiology, clinical and regenerative medicine named after academician M.D. Strazhesko" of the National Academy of Medical Sciences of Ukraine
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Develop a set of measures for early clinical and laboratory diagnosis of hereditary diseases of the nervous system in order to ensure a personalized approach to their treatment and management
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Molecular genetic testing is becoming increasingly popular as a first-line diagnostic test for neurological disorders in children. We analyzed the frequency of variants in the CLN2 gene in 48 patients with neuronal ceroid lipofuscinosis type 2 (NCL2) and assessed genotype-phenotype correlations. Additionally, we analyzed genetic data from 40 symptomatic patients with a confirmed diagnosis of spinal muscular atrophy (SMA). Based on the obtained data, a genotype-phenotype analysis was performed, followed by the development of a diagnostic algorithm for spinal muscular atrophy. A comprehensive evaluation of these data is crucial, as it allows for the revision of diagnostic algorithms by implementing a country-specific approach. This significantly simplifies and reduces the cost of genetic analysis for patients in Ukraine. Information about the clinical features of the disease in patients with novel, previously unreported mutations enabled us to expand the current knowledge of genotype-phenotype correlations in NCL2. Moreover, the neonatal screening and confirmatory diagnostic algorithm for SMA developed based on our research is critically important for the timely establishment of an accurate diagnosis and the initiation of appropriate treatment, thereby enhancing its effectiveness.
Product Description
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Yevseienkova Olena H.
Buriak Oleksandr A.
Vlasova Olena M.
Levkovych Nataliia Ye.
Mytsyk Nataliia Yo.
Mostoviak Mariana P.
Olkhovych Volodymyr P.
Olkhovych Nataliia V.
Podolska Svitlana V.
Rossokha Zoia I.
Stroi Dmytro О.
Tavokina Liubov V.
Trofimova Natalia S.
Fishchuk Liliia Ye.
Sheiko Larysa P.
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2024-12-22
