European Human Genetics Conference in 2019 (Göteburg, Sweden)
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17.07.2019

European Human Genetics Conference in 2019 (Göteburg, Sweden)

The European Human Genetics Conference was held in Göteburg (Sweden) on June 15-18, and 13 researchers from FSBI Research Centre for Medical Genetics attended it.

The Conference is an annual event held with a purpose to be acquainted with new scientific achievements in various areas of human genetics.

The Conference program included 24 reports by the FSBI RCMG researchers:

- Petrova N.V., Vasilyeva T.A., Getoeva Z.K., Kashirskaya N.Ya., Balinova N.V., Dzhadzhiyeva M.Yu., Saydayeva D.K., Galkina V.A., Ginter E.K., Marakhonov A.V., Zinchenko R.A. “Four STRs of the CFTR gene in six Northern-Caucasus populations”;

- Petrova N.V., Bikanov R.A., Vasilyeva T.A., Getoeva Z.K., Dzhadzhiyeva M.Yu., Kashirskaya N.Yu., Balinova N.V., Elchinova G.I., Ginter E.K., Marakhonov A.V., Zinchenko R.A.: “Polymorphism of nine nuclear genome DNA loci in Ossetian population”;

Vasilyeva T.A., Kadyshev V.V., Voskresenskaya A.A., Petrova N.V., Marakhonov A.V., Zinchenko R.A.: “Genotype-phenotype correlation in congenital PAX6-associated aniridia”;

- Marakhonov A.V., Repina S.A., Akimova I.A., Shurygina M.V., Vasilyeva T.A., Vasilyeva T.A., Kutsev S.I., Kadyshev V.V., Zinchenko R.A.: “Prenatal diagnosis of Norrie disease after sequencing of an exome affected proband during pregnancy”;

- Kadyshev V.V., Marakhonov A.V., Vasilyeva T.A., Kutsev S.I., Zinchenko R.A : “Genetic epidemiological study of hereditary ophthalmic pathology in children of the Karachay-Cherkess Republic, Russia”;

- Ryzhkova O.P., Molashenko N., Zabnenkova V., Polyakov A., Troshina E. О: “Symptoms of hyperthyroidism may mask myotonic dystrophy”;

- Marnat E., Adian T., Stepanova A., Tatyana T., Polyakov A., Chernykh V.: “CFTR genotypes in Russian patients with CBAVD syndrome”;

- Kuznetsova I, Gundorova P., Ryzhkova O., Polyakov A.: “The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene”;

- Bulakh M.V., Ryzhkova O.P., Polyakov A.V.: “Molecular analysis of sarcoglycanopathies in Russian LGMD patients”;

- Mironovich O. L., Bliznets E. A., Markova T. G., Latayants M. R., Markova T. V., Bessonova L. A., Petukhova M. S., Makienko O. N., Guseva D. M., Anisimova I. V., Ryzhkova O. P., Polyakov A.V.: “The most common forms of non-GJB2-related nonsyndromic (NSHL) and disguised syndromic (SHL) hearing impartment in Russian patients”;

- Semenova N., Anisimova I., Shchagina O., Chukhrova A., Ryzhkova O., Bychkov I., Pechatnikova N.: “A clinical case of somatic mosaicism in an unaffected father of female patient with ornithine transcarbamylase deficiency (OTC)”;

- Adilgereyeva E.P., Smirnikhina S.A., Lavrov A.V., Nikitin A.G., Chelysheva E.Yu., Shukhov O.A., Turkina A.G., Kutsev S.I.: “The results of the search for markers of the TKI efficiency in patients with newly diagnosed CML using molecular genetic methods”;

- Kondratyeva E.V., Anuchina A.A., Adilgereyeva E.P., Amelina E.L., Ustinov K.D., Yasinovsky M.I., Kochergin-Nikitsky K.S., Zaynitdinova M.I., Mozgovoy I.V., Lavrov A.V., Smirnikhina S.A.: “F508del editing in patient-derived iPSCs by CRISPR/Cas9”;

- Smirnikhina S.A., Kondratyeva E.V., Anuchina A.A., Adilgereyeva E.P., Amelina E.L., Ustinov K.D., Yasinovsky M.I., Kochergin-Nikitsky K.S., Zaynitdinova M.I., Mozgovoy I.V., Lavrov A.V.: “F508del correction in CFTE29o- cell line by CRISPR/Cas9”;

- Zhekayte E., Kondratyeva E., Petrova N., Sherman V., Voronkova A., Budzinskiy R., Zotbinova A., Melianovskaya Yu.: “The effect of exogenous and genetic factors on the development of vitamin D deficiency in patients with cystic fibrosis”;

- Levchenko O., Dadali E., Bessonova L., Demina N., Rudenskaya G., Matyushchenko G., Markova T., Anisimova I., Semenova N., Shchagina O., Ryzhkova O., Zinchenko R., Galkina V., Voinova V., Lavrov A.: “Exome sequencing of 100 patients with intellectual disability”;

- Kondratyeva E., Krasovsky S., Kashirskaya N., Amelina E., Chernykh V., Polyakov A., Ivashchenko T., Pavlov A., Zinchenko R., Ginter E., Odinokova O., Nazarenko L., Kapranov N., Sherman V., Voronkova A., Starinova M., Izhevskaya V., Zodbinova A., Melyanovskaya Y., Kutsev S.: “The variety of genetic variants of the CFTR gene according to the 2017 Register of the Russian Federation”;

- Filatova A., Vasilyeva T., Marakhonov A., Zinchenko R., Skoblov M.: “PAX6 non-coding sequence variants cause congenital aniridia”;

- Serzhanova V., Filatova A., Papizh S., Skoblov M.:  “cDNA structure analysis revealed a novel CTNS mutation”;

- Sparber P., Filatova A., Anisimova I., Chukhrova A., Skoblov M.: “Pitt-Hopkins syndrome caused by a pathogenic splicing variant”;

- Freire V., Filatova A., Akimova I., Bulakh M., Skoblov M.: “Functional analysis of an intronic variant of uncertain significance c.911-13A>G in the FKTN gene”;

 - Skoblov M.Yu., Zernov N.V., Guskova A.A., P.Ya. Van der Vliet, Rudenskaya G.E., Sharkova I.A., Akimova I.A., R.J. Lemmers, Semenova N.A., Demina N.A., Galkina V.A., Markova T.V., Zinovieva O.E., Dadali E.L.: “Methods of the DNA diagnostics for facioscapulohumeral muscular dystrophy (FSHD)”;

- Borovikov A., Sharkov A., Akimova I., Mikhailova S., Filatova A., Marakhonov A., Dadali E., Skoblov M.: “Gene-phenotype correlation of myoclonic progressive epilepsy type 3”;

- Zayaeva E., Baranova E., Zhuchenko L., Ivanova L., Izhevskaya V.: “Noninvasive prenatal test: preferences and awareness among healthcare professionals in Russia”

Meeting at ESHG is an important event in the field of human genetics.

https://2019.eshg.org/wp-content/uploads/2019/06/ESHG_2019_Final_Programme.pdf

https://2019.eshg.org/