Commonwealth Without Borders
International Forum on the Diagnosis and Treatment of Orphan Diseases
The conference is closed
October 30—31
Tashkent
Tashkent
Форум завершил свою работу
Main scientific organizers
Ministry of Health of the Republic of Uzbekistan
Academy of Sciences of the Republic of Uzbekistan
Institute of Immunology and Human Genomics of the Academy of Sciences of the Republic of Uzbekistan
State institution "Republican Specialized Scientific and Practical Medical Centre for Maternal and Child Health" of the Ministry of health of the Republic of Uzbekistan
"Zamin" International Public Foundation
About the Forum
2024
The event will be attended by
geneticists, pediatricians, ophthalmologists, cardiologists, trauma surgeons-orthopedists, therapists, rheumatologists, obstetricians-gynecologists,neurologists, oncologists, hematologists, dermatovenereologists, gastroenterologists, psychiatrists, clinical psychologists, rehabilitation specialists,allergists-immunologists, endocrinologists, nephrologists, pulmonologists, neurosurgeons,
functional diagnostics specialists, representatives of religious denominations, healthcare administrators, as well as representatives of the legislative and executive authorities
from
19
countries
October 30
October 31
The time in Tashkent is indicated (+5 GSM)
1. Genetic diagnosis and therapy of congenital adrenal cortex dysfunction — 15 min.
Vorontsova Maria Vladimirovna (Russia)
2. Recent advances in Medical Genetics: Which benefits for the patients? — 30 min.
Dominique Germain (France)
3. Biotechnological platforms in the diagnosis and therapy of rare diseases — 15 min.
Kudlay Dmitry Anatolyevich (Russia)
Vorontsova Maria Vladimirovna (Russia)
2. Recent advances in Medical Genetics: Which benefits for the patients? — 30 min.
Dominique Germain (France)
3. Biotechnological platforms in the diagnosis and therapy of rare diseases — 15 min.
Kudlay Dmitry Anatolyevich (Russia)
Participants:
Shaykh Nuriddin Kholiknazarov, Chairman of the Muslim Board, Mufti of Uzbekistan (Uzbekistan)
Vikenty, Metropolitan of Tashkent and Uzbekistan (Uzbekistan)
Adilov Eldor Erkinovich (Uzbekistan)
Egamberdiev Azamat Uktamovich (Uzbekistan)
Kadyrova Khutmat Ramzanovna (Russia)
Aripova Tamara Uktamovna (Uzbekistan)
Izhevskaya Vera Leonidovna (Russia)
Imamov Otabek Sunnatovich (Uzbekistan)
Usmonov Saidalo Komiljonovich (Uzbekistan)
Shaykh Nuriddin Kholiknazarov, Chairman of the Muslim Board, Mufti of Uzbekistan (Uzbekistan)
Vikenty, Metropolitan of Tashkent and Uzbekistan (Uzbekistan)
Adilov Eldor Erkinovich (Uzbekistan)
Egamberdiev Azamat Uktamovich (Uzbekistan)
Kadyrova Khutmat Ramzanovna (Russia)
Aripova Tamara Uktamovna (Uzbekistan)
Izhevskaya Vera Leonidovna (Russia)
Imamov Otabek Sunnatovich (Uzbekistan)
Usmonov Saidalo Komiljonovich (Uzbekistan)
1. Opening remarks— 10 min.
Kutsev Sergey Ivanovich (Russia), Rumyantsev Alexander Grigorievich (Russia), Voronin Sergey Vladimirovich (Russia), Namazova-Baranova Leyla Seymurovna (Russia)
2. Alpha-mannosidosis: the path of a rare patient — 10 min.
Vashakmadze Nato Jumberovna (Russia)
3. Epidermolysis bullosa: an obvious diagnosis, a non-obvious solution — 10 min.
Porshina Oksana Vladimirovna (Russia)
4. HoFH: a not-so-rare rare disease — 10 min.
Sadykova Dinara Ilgizarovna (Russia)
5. Discussion— 20 min.
Kutsev Sergey Ivanovich (Russia), Rumyantsev Alexander Grigorievich (Russia), Voronin Sergey Vladimirovich (Russia), Namazova-Baranova Leyla Seymurovna (Russia)
2. Alpha-mannosidosis: the path of a rare patient — 10 min.
Vashakmadze Nato Jumberovna (Russia)
3. Epidermolysis bullosa: an obvious diagnosis, a non-obvious solution — 10 min.
Porshina Oksana Vladimirovna (Russia)
4. HoFH: a not-so-rare rare disease — 10 min.
Sadykova Dinara Ilgizarovna (Russia)
5. Discussion— 20 min.
1. Diversity of genetic eye pathology in the Russian Federation — 20 min.
Vitaly Viktorovich Kadyshev (Russia)
2. Implementation of genetics into the practice of ophthalmology in the Republic of Uzbekistan — 20 min.
Karimova Muyassar Khamidovna (Uzbekistan)
3. Pediatric Neurotrophic Keratopathy. The main features and treatment — 20 min.
Presentation supported by "Biomedica" company
Emilio Pedrotti (Italy)
Vitaly Viktorovich Kadyshev (Russia)
2. Implementation of genetics into the practice of ophthalmology in the Republic of Uzbekistan — 20 min.
Karimova Muyassar Khamidovna (Uzbekistan)
3. Pediatric Neurotrophic Keratopathy. The main features and treatment — 20 min.
Presentation supported by "Biomedica" company
Emilio Pedrotti (Italy)
1. Intraputaminal gene therapy treatment of AADC deficiency in Italy: treatment, outcomes and post-treatment care
Francesco Pisani (Italy) — 20 min.
2. Looking to the future. Sepiapterin: clinical trial results
Lali Margvelashvili (Georgia) — 20 min.
3. Rare diseases diagnostics with whole genome sequencing — 20 min.
Boutros Maroun (United Arab Emirates)
Francesco Pisani (Italy) — 20 min.
2. Looking to the future. Sepiapterin: clinical trial results
Lali Margvelashvili (Georgia) — 20 min.
3. Rare diseases diagnostics with whole genome sequencing — 20 min.
Boutros Maroun (United Arab Emirates)
1. System of prenatal diagnosis of genetic anomalies in the fetus in the Republic of Belarus — 15 min.
Pribushenya Oksana Vladimirovna (Belarus)
2. "Traditional" approaches in prenatal screening: long-term results — 15 min.
Gusina Nina Borisovna (Belarus)
3. Clinical case of prenatal diagnosis of thalassemia and birth of a healthy child — 15 min.
Narmetova Munavar Ulugbekovna (Uzbekistan)
4. Molecular genetic methods of prenatal and neonatal screening for genetic diseases — 10 min.
Presentation supported by "Helicon" company
Anikaev Alexey Yurievich (Russia)
5. Discussion - 5 min.
Pribushenya Oksana Vladimirovna (Belarus)
2. "Traditional" approaches in prenatal screening: long-term results — 15 min.
Gusina Nina Borisovna (Belarus)
3. Clinical case of prenatal diagnosis of thalassemia and birth of a healthy child — 15 min.
Narmetova Munavar Ulugbekovna (Uzbekistan)
4. Molecular genetic methods of prenatal and neonatal screening for genetic diseases — 10 min.
Presentation supported by "Helicon" company
Anikaev Alexey Yurievich (Russia)
5. Discussion - 5 min.
1. Russian experience in identifying patients with rare (orphan) diseases during preventive medical examinations — 20 min.
Namazova-Baranova Leyla Seymurovna (Russia)
2. Routing of patients with rare diseases in the Republic of Uzbekistan — 20 min.
Abdusamatova Barno Erkinovna (Uzbekistan)
3. The role of non-governmental non-profit organizations in supporting children with severe diseases — 20 min.
Sadykov Marat Fatikhovich (Uzbekistan)
Namazova-Baranova Leyla Seymurovna (Russia)
2. Routing of patients with rare diseases in the Republic of Uzbekistan — 20 min.
Abdusamatova Barno Erkinovna (Uzbekistan)
3. The role of non-governmental non-profit organizations in supporting children with severe diseases — 20 min.
Sadykov Marat Fatikhovich (Uzbekistan)
1. Genetic passport. What is important to do when planning pregnancy? — 15 min.
Glotov Andrey Sergeevich (Russia)
2. Prenatal diagnosis in the era of molecular technologies — 15 min.
Gnetetskaya Valentina Anatolyevna (Russia)
3. Non-invasive prenatal test: more than 10 years of clinical application. What's next? — 15 min.
Baranova Elena Evgenievna (Russia)
4. Hypothyroidism during pregnancy, lactation and in preparation for ART. Modern principles of diagnosis and treatment — 15 min.
Muratova Shakhlo Tahirzhanovna (Uzbekistan)
Glotov Andrey Sergeevich (Russia)
2. Prenatal diagnosis in the era of molecular technologies — 15 min.
Gnetetskaya Valentina Anatolyevna (Russia)
3. Non-invasive prenatal test: more than 10 years of clinical application. What's next? — 15 min.
Baranova Elena Evgenievna (Russia)
4. Hypothyroidism during pregnancy, lactation and in preparation for ART. Modern principles of diagnosis and treatment — 15 min.
Muratova Shakhlo Tahirzhanovna (Uzbekistan)
1. Financing the treatment of rare diseases worldwide: a brief overview — 15 min.
Oleg Kvlividze (Georgia)
2. The Russian Foundation “Circle of Kindness” as a mechanism for financing assistance to children with orphan diseases — 15 min.
Bogdanova Valeria Olegovna (Russia)
3. Organizing сomprehensive сare for сhildren with primary immunodeficiencies: innovative approaches at the center for Pediatric Oncology, Hematology, and Immunology —15 min.
Polatova Djamilya Shogayratovna (Uzbekistan)
3. Discussion — 15 min.
Oleg Kvlividze (Georgia)
2. The Russian Foundation “Circle of Kindness” as a mechanism for financing assistance to children with orphan diseases — 15 min.
Bogdanova Valeria Olegovna (Russia)
3. Organizing сomprehensive сare for сhildren with primary immunodeficiencies: innovative approaches at the center for Pediatric Oncology, Hematology, and Immunology —15 min.
Polatova Djamilya Shogayratovna (Uzbekistan)
3. Discussion — 15 min.
1. Selective screening programmes in the Russian Federation — 20 min.
Zakharova Ekaterina Yurievna (Russia)
2. Issues of diagnosis and treatment of patients with hyperammonemia — 20 min.
Akhmedova Dilorom Ilkhamovna (Uzbekistan)
3. Topic to be specified — 20 min.
Aripov Abdumalik Nigmatovich (Uzbekistan)
4. Discussion — 20 min.
Zakharova Ekaterina Yurievna (Russia)
2. Issues of diagnosis and treatment of patients with hyperammonemia — 20 min.
Akhmedova Dilorom Ilkhamovna (Uzbekistan)
3. Topic to be specified — 20 min.
Aripov Abdumalik Nigmatovich (Uzbekistan)
4. Discussion — 20 min.
1. Common among the rare: top 5 orphan diseases requiring palliative care for children — 20 min.
Polevichenko Elena Vladimirovna (Russia)
2. Capabilities of the "Taskin" children's hospice in providing palliative care to children with malignant neoplasms — 20 min.
Narbaev Rustam Yakhyeevich (Uzbekistan)
3. Integration of the work of the center for palliative medical care for children and the monitoring center for children with orphan diseases — 20 min.
Kozhevnikova Olga Vladimirovna (Russia)
Polevichenko Elena Vladimirovna (Russia)
2. Capabilities of the "Taskin" children's hospice in providing palliative care to children with malignant neoplasms — 20 min.
Narbaev Rustam Yakhyeevich (Uzbekistan)
3. Integration of the work of the center for palliative medical care for children and the monitoring center for children with orphan diseases — 20 min.
Kozhevnikova Olga Vladimirovna (Russia)
1. Targeted exome sequencing in the diagnosis of syndromic short stature — 15 min.
Gilyazetdinov Kamil Nailevich (Uzbekistan)
2. Apparent mineralocorticoid excess — 15 min.
Makretskaya Nina Alekseevna (Russia)
3. Genetic basis of disorders of sex development with karyotype 46,XY — 15 min.
Kalinchenko Natalia Yurievna (Russia)
4. Secondary hypocorticism: hereditary forms — 15 min.
Tiulpakov Anatolii Nikolaevich (Russia)
Gilyazetdinov Kamil Nailevich (Uzbekistan)
2. Apparent mineralocorticoid excess — 15 min.
Makretskaya Nina Alekseevna (Russia)
3. Genetic basis of disorders of sex development with karyotype 46,XY — 15 min.
Kalinchenko Natalia Yurievna (Russia)
4. Secondary hypocorticism: hereditary forms — 15 min.
Tiulpakov Anatolii Nikolaevich (Russia)
1. Central precocious puberty: from genetics to treatment — 15 min.
Uralova Dilafruz Ulugbek kizi (Uzbekistan)
2. Aggressive pituitary adenomas: challenges and prospects in diagnosis — 15 min.
Khalimova Zamira Yusufovna, co-author Azimova O.T. (Uzbekistan)
3. Achondroplasia. Clinic, diagnostics, approaches to patient management — 20 min.
Presentation supported by LLC "Swixx Healthcare" company
Petryaikina Elena Efimovna (Russia)
4. Possibilities for prevention and treatment of type 1 diabetes in children at the present stage — 10 min.
Petryaikina Elena Efimovna (Russia)
Uralova Dilafruz Ulugbek kizi (Uzbekistan)
2. Aggressive pituitary adenomas: challenges and prospects in diagnosis — 15 min.
Khalimova Zamira Yusufovna, co-author Azimova O.T. (Uzbekistan)
3. Achondroplasia. Clinic, diagnostics, approaches to patient management — 20 min.
Presentation supported by LLC "Swixx Healthcare" company
Petryaikina Elena Efimovna (Russia)
4. Possibilities for prevention and treatment of type 1 diabetes in children at the present stage — 10 min.
Petryaikina Elena Efimovna (Russia)
1. Genetic register of congenital and hereditary pathology QazGenIs — 15 min.
Abildinova Gulshara Zhusupovna (Kazakhstan)
2. Neonatal screening of hereditary diseases as a tool of modern healthcare — 12 min.
Presentation supported by AO "Roche-Moscow" company
Voronin Sergey Vladimirovich (Russia)
3. Review of the health policy of the Republic of Kazakhstan in relation to orphan diseases — 12 min.
Embergenova Magripa Khamitovna (Kazakhstan)
4. A look at childhood obesity through the prism of nutrient deficiency — 12 min.
Azimova Shakhnoza Sharafutdinovna (Uzbekistan)
5. Improving the organization of medical and medico-social care for patients with severe chronic and rare (orphan) diseases — 12 min.
Polenova Victoria Sergeevna (Russia)
Abildinova Gulshara Zhusupovna (Kazakhstan)
2. Neonatal screening of hereditary diseases as a tool of modern healthcare — 12 min.
Presentation supported by AO "Roche-Moscow" company
Voronin Sergey Vladimirovich (Russia)
3. Review of the health policy of the Republic of Kazakhstan in relation to orphan diseases — 12 min.
Embergenova Magripa Khamitovna (Kazakhstan)
4. A look at childhood obesity through the prism of nutrient deficiency — 12 min.
Azimova Shakhnoza Sharafutdinovna (Uzbekistan)
5. Improving the organization of medical and medico-social care for patients with severe chronic and rare (orphan) diseases — 12 min.
Polenova Victoria Sergeevna (Russia)
1. Topic to be specified — 15 min.
Speaker to be specified (Uzbekistan)
2. Epidemiology of "rare" diseases in children — a fundamental approach to diagnosis and treatment — 15 min.
Zinchenko Rena Abulfazovna (Russia)
3. Spectrum of DMD gene mutations and personalized therapy for Duchenne muscular dystrophy according to the Russian Federation registry data — 15 min.
Sparber Petr Andreevich (Russia)
4. Ethnogenomics of monogenic diseases — 15 min.
Khusnutdinova Elza Kamilevna (Russia)
Speaker to be specified (Uzbekistan)
2. Epidemiology of "rare" diseases in children — a fundamental approach to diagnosis and treatment — 15 min.
Zinchenko Rena Abulfazovna (Russia)
3. Spectrum of DMD gene mutations and personalized therapy for Duchenne muscular dystrophy according to the Russian Federation registry data — 15 min.
Sparber Petr Andreevich (Russia)
4. Ethnogenomics of monogenic diseases — 15 min.
Khusnutdinova Elza Kamilevna (Russia)
1. Alport syndrome — 12 min.
Tsygin Alexey Nikolaevich (Russia)
2. Nephropathic cystinosis — 12 min.
Milovanova Anastasia Mikhailovna (Russia)
3. PHEX gene mutation in a child with X-linked hypophosphatemic rickets — 12 min.
Khamzaev Komiljon Amirovich (Uzbekistan)
4. X-linked hypophosphatemic rickets — 12 min.
Tsygin Alexey Nikolaevich (Russia)
5. Tuberous sclerosis: features of the disease course before and after kidney transplantation (clinical observation) — 12 min.
Grigorieva Elena Vyacheslavovna (Russia)
Tsygin Alexey Nikolaevich (Russia)
2. Nephropathic cystinosis — 12 min.
Milovanova Anastasia Mikhailovna (Russia)
3. PHEX gene mutation in a child with X-linked hypophosphatemic rickets — 12 min.
Khamzaev Komiljon Amirovich (Uzbekistan)
4. X-linked hypophosphatemic rickets — 12 min.
Tsygin Alexey Nikolaevich (Russia)
5. Tuberous sclerosis: features of the disease course before and after kidney transplantation (clinical observation) — 12 min.
Grigorieva Elena Vyacheslavovna (Russia)
1. Diagnosis of Duchenne muscular dystrophy — 20 min.
Shatokhina Natalia Stanislavovna (Russia)
2. International clinical trial data for the drug ataluren — 20 min.
Nikitin Sergey Sergeevich (Russia)
3. AADC deficiency, clinical trial data for the drug eladocagene exuparvovec — 20 min.
Kondakova Olga Borisovna (Russia)
Shatokhina Natalia Stanislavovna (Russia)
2. International clinical trial data for the drug ataluren — 20 min.
Nikitin Sergey Sergeevich (Russia)
3. AADC deficiency, clinical trial data for the drug eladocagene exuparvovec — 20 min.
Kondakova Olga Borisovna (Russia)
1. Main ways of interaction for patient organizations in the EAEU countries — 10 min.
Zhulev Yuri Alexandrovich (Russia)
2. Effective partnership towards a common goal — 10 min.
Germanenko Olga Yurievna (Russia)
3. Possibilities of providing assistance to children with rare diseases in the Republic of Uzbekistan — 10 min.
Belyakov Denis Vladimirovich (Russia)
4. Rare congenital genetic diseases Aniridia and Albinism, Features of patient routing — 10 min.
Gening Galina Nikolaevna (Russia)
5. Systemic help for children with osteogenesis imperfecta — 10 min.
Meshcheryakova Elena Alexandrovna (Russia)
6. Relevance of patient organizations in the Republic of Uzbekistan — 10 min.
Ismailova Adolat Abdurahimovna (Uzbekistan)
Zhulev Yuri Alexandrovich (Russia)
2. Effective partnership towards a common goal — 10 min.
Germanenko Olga Yurievna (Russia)
3. Possibilities of providing assistance to children with rare diseases in the Republic of Uzbekistan — 10 min.
Belyakov Denis Vladimirovich (Russia)
4. Rare congenital genetic diseases Aniridia and Albinism, Features of patient routing — 10 min.
Gening Galina Nikolaevna (Russia)
5. Systemic help for children with osteogenesis imperfecta — 10 min.
Meshcheryakova Elena Alexandrovna (Russia)
6. Relevance of patient organizations in the Republic of Uzbekistan — 10 min.
Ismailova Adolat Abdurahimovna (Uzbekistan)
1. Fabry disease: diagnosis and selective screening — 25 min.
Zakharova Ekaterina Yuryevna (Russia)
2. Red flags of Fabry disease in children: clinical practice — 25 min.
Vashakmadze Nato Jumberovna (Russia)
3. Discussion - 10 min.
Zakharova Ekaterina Yuryevna (Russia)
2. Red flags of Fabry disease in children: clinical practice — 25 min.
Vashakmadze Nato Jumberovna (Russia)
3. Discussion - 10 min.
1. Scientific and technological approaches to the development and production of real-time PCR test systems for orphan diseases in Uzbekistan — 15 min.
Hegai Tatiana Rudolfovna (Uzbekistan)
2. Molecular diagnostics as the basis for the therapy of hereditary diseases — 15 min.
Shchagina Olga Anatolyevna (Russia)
3. A complex of DNA diagnostic methods for finding the molecular cause of a genetically heterogeneous hereditary disease using the example of retinitis pigmentosa — 15 min.
Stepanova Anna Alexandrovna (Russia)
4. Diagnostic balance in the context of the diversity of hereditary neuromuscular diseases — 15 min.
Murtazina Aisylu Fanzirovna (Russia)
Hegai Tatiana Rudolfovna (Uzbekistan)
2. Molecular diagnostics as the basis for the therapy of hereditary diseases — 15 min.
Shchagina Olga Anatolyevna (Russia)
3. A complex of DNA diagnostic methods for finding the molecular cause of a genetically heterogeneous hereditary disease using the example of retinitis pigmentosa — 15 min.
Stepanova Anna Alexandrovna (Russia)
4. Diagnostic balance in the context of the diversity of hereditary neuromuscular diseases — 15 min.
Murtazina Aisylu Fanzirovna (Russia)
1. Features of the phenotype and "masks" of skeletal dysplasias —12 min.
Gorodilova Darya Valerievna, co-author Markova T.V. (Russia)
2. Principles of diagnosis and treatment of orthopedic disorders in systemic skeletal dysplasias: why is it important for us to remember the fundamental biological patterns? — 12 min.
Kenis Vladimir Markovich, co-author Melchenko E.V. (Russia)
3. Diagnosis and treatment of congenital clubfoot in children with hereditary syndromes and neuromuscular diseases — 12 min.
Rustamov Khushnud Khusainovich (Uzbekistan)
4. Correction of lower limb deformities in children with rickets-like diseases and metabolic osteopathies — 12 min.
Melchenko Evgeny Viktorovich (Russia)
5. Personalized approaches to the treatment and rehabilitation of children with systemic-onset juvenile arthritis — 12 min.
Akhmedova Dilorom Ilkhamovna (Uzbekistan)
Gorodilova Darya Valerievna, co-author Markova T.V. (Russia)
2. Principles of diagnosis and treatment of orthopedic disorders in systemic skeletal dysplasias: why is it important for us to remember the fundamental biological patterns? — 12 min.
Kenis Vladimir Markovich, co-author Melchenko E.V. (Russia)
3. Diagnosis and treatment of congenital clubfoot in children with hereditary syndromes and neuromuscular diseases — 12 min.
Rustamov Khushnud Khusainovich (Uzbekistan)
4. Correction of lower limb deformities in children with rickets-like diseases and metabolic osteopathies — 12 min.
Melchenko Evgeny Viktorovich (Russia)
5. Personalized approaches to the treatment and rehabilitation of children with systemic-onset juvenile arthritis — 12 min.
Akhmedova Dilorom Ilkhamovna (Uzbekistan)
1. Current issues in SMA therapy in the Russian Federation — 20 min.
Illarioshkin Sergey Nikolaevich (Russia)
2. HSCT: from diagnosis to the choice of drug therapy — 20 min.
Totolyan Natalya Agafonovna (Russia)
3. Myasthenia gravis: features of diagnosis and treatment — 20 min.
Suponeva Natalia Alexandrovna (Russia)
Illarioshkin Sergey Nikolaevich (Russia)
2. HSCT: from diagnosis to the choice of drug therapy — 20 min.
Totolyan Natalya Agafonovna (Russia)
3. Myasthenia gravis: features of diagnosis and treatment — 20 min.
Suponeva Natalia Alexandrovna (Russia)
1. Modern methods of treating osteogenesis imperfecta in children in the Republic of Uzbekistan — 15 min.
Tilyakov Akbar Burievich, co-authors Ruziev N.T., Yuldashev A.Zh. (Uzbekistan)
2. Difficulties in managing a comorbid patient with fibrodysplasia ossificans progressiva — 15 min.
Nikitina Natalia Mikhailovna (Russia)
3. Possibilities of pathomorphological diagnosis of systemic skeletal dysplasias in fetuses during the 1st and 2nd trimesters of pregnancy — 15 min.
Lazarevich Anastasia Anatolyevna (Belarus)
4. Multidisciplinary approach to a patient with osteogenesis imperfecta — 15 min.
Mirsaatova Malika Bakhodirovna (Uzbekistan)
1. Modern technologies for predicting Preeclampsia — 20 min.
Svyatova Gulnara Salavatovna (Kazakhstan)
2. Selective screening programs for Inherited metabolic diseases: experience of the National Medical Research Center for Children's Health, Ministry of Health of Russia — 20 min.
Pushkov Alexander Alekseevich (Russia)
3. Newborn screening for lysosomal storage disorders – mucopolysaccharidosis — 20 min.
Enzo Ranieri (Australia)
Svyatova Gulnara Salavatovna (Kazakhstan)
2. Selective screening programs for Inherited metabolic diseases: experience of the National Medical Research Center for Children's Health, Ministry of Health of Russia — 20 min.
Pushkov Alexander Alekseevich (Russia)
3. Newborn screening for lysosomal storage disorders – mucopolysaccharidosis — 20 min.
Enzo Ranieri (Australia)
1. The main criteria for determining the safety of the cellular component of BMCP — 20 min.
Karimova Fatima Abdukarimovna, co-author Khegay T.R. (Uzbekistan)
2. Epigenetic reprogramming of aging chondrocytes: Chemical rejuvenation of cells in the articular surface of the knee joint — 20 min.
Muratkhodjaeva Saodat Abdujabbarovna, co-author Aripova T.U. (Uzbekistan)
3. Cell technologies and regenerative medicine — 20 min.
Adilov Sherzod Farkhadovich (Uzbekistan)
Karimova Fatima Abdukarimovna, co-author Khegay T.R. (Uzbekistan)
2. Epigenetic reprogramming of aging chondrocytes: Chemical rejuvenation of cells in the articular surface of the knee joint — 20 min.
Muratkhodjaeva Saodat Abdujabbarovna, co-author Aripova T.U. (Uzbekistan)
3. Cell technologies and regenerative medicine — 20 min.
Adilov Sherzod Farkhadovich (Uzbekistan)
1. Integration of artificial intelligence in the management of patients with hereditary diseases — 15 min.
Ruzimurodov Nodir Fazliddinovich, co-author Aripova T.U. (Uzbekistan)
2. Leverage Genomic AI to deliver a more accurate and comprehensive genome — 30 min.
Presentation supported by «Illumina» company
Dale Watkins (Australia)
3. The need for a balanced approach to AI usage: implementing innovations while adhering to ethical and legal standards — 15 min.
Kaibyldaeva Begaim Mukhitovna (Kyrgyzstan)
Ruzimurodov Nodir Fazliddinovich, co-author Aripova T.U. (Uzbekistan)
2. Leverage Genomic AI to deliver a more accurate and comprehensive genome — 30 min.
Presentation supported by «Illumina» company
Dale Watkins (Australia)
3. The need for a balanced approach to AI usage: implementing innovations while adhering to ethical and legal standards — 15 min.
Kaibyldaeva Begaim Mukhitovna (Kyrgyzstan)
1. Molecular genetic methods for diagnosis, treatment and prevention of hereditary diseases — 15 min.
Larionova Valentina Ilyinichna (Russia)
2. Carrier screening: opportunities and prospects — 15 min.
Baranova Elena Evgenievna (Russia)
3. Genetic testing in Uzbekistan - features and initial results — 15 min.
Fedyakov Mikhail Andreevich (Uzbekistan)
4. Whole-genome studies and deep phenotyping in the Russian cohort of children with autism spectrum disorders — 15 min.
Voinova Victoria Yurievna (Russia)
Larionova Valentina Ilyinichna (Russia)
2. Carrier screening: opportunities and prospects — 15 min.
Baranova Elena Evgenievna (Russia)
3. Genetic testing in Uzbekistan - features and initial results — 15 min.
Fedyakov Mikhail Andreevich (Uzbekistan)
4. Whole-genome studies and deep phenotyping in the Russian cohort of children with autism spectrum disorders — 15 min.
Voinova Victoria Yurievna (Russia)
1. The role of fetal medicine in forming the genetic passport of the fetus — 15 min.
Yusupbaev Rustam Bazarbaevich (Uzbekistan)
2. Prenatal ultrasound diagnosis of Edwards syndrome — 15 min.
Normuradova Nodira Muradullaevna (Uzbekistan)
3. The role of fetal medicine in the differential diagnosis of genetic and infectious diseases of the fetus —15 min.
Ilyasov Azizbek Bakhtiyarovich (Uzbekistan)
4. Genetic aspects of non-immune fetal hydrops — 15 min.
Pulatova Gulrukh Alisherovna (Uzbekistan)
Yusupbaev Rustam Bazarbaevich (Uzbekistan)
2. Prenatal ultrasound diagnosis of Edwards syndrome — 15 min.
Normuradova Nodira Muradullaevna (Uzbekistan)
3. The role of fetal medicine in the differential diagnosis of genetic and infectious diseases of the fetus —15 min.
Ilyasov Azizbek Bakhtiyarovich (Uzbekistan)
4. Genetic aspects of non-immune fetal hydrops — 15 min.
Pulatova Gulrukh Alisherovna (Uzbekistan)
1. Informativeness of polymorphisms +49A>G and +318C>T of the CTLA gene in the progression of chronic viral infection in children — 20 min.
Inoyatova Flora Ilyasovna (Uzbekistan)
2. Genetic polymorphism of immunocytokines in the development of community-acquired pneumonia in young children — 20 min.
Nabieva Umida Pulatjanovna, co-author Suleymanova L.I. (Uzbekistan)
3. Polygenic models of risk for developing multifactorial diseases — 20 min.
Khusnutdinova Elza Kamilevna (Russia)
4. Immunogenetic Markers for Predicting the Development of Chronic Kidney Disease — 10 min.
Yuldashev Ulugbek Karimovich, co-author Ruzibakieva M.R. (Uzbekistan)
Inoyatova Flora Ilyasovna (Uzbekistan)
2. Genetic polymorphism of immunocytokines in the development of community-acquired pneumonia in young children — 20 min.
Nabieva Umida Pulatjanovna, co-author Suleymanova L.I. (Uzbekistan)
3. Polygenic models of risk for developing multifactorial diseases — 20 min.
Khusnutdinova Elza Kamilevna (Russia)
4. Immunogenetic Markers for Predicting the Development of Chronic Kidney Disease — 10 min.
Yuldashev Ulugbek Karimovich, co-author Ruzibakieva M.R. (Uzbekistan)
1. Clinical picture of hereditary diseases accompanied by cholestasis syndrome — 20 min.
Strokova Tatiana Viktorovna (Russia)
2. Differential diagnosis of cholestatic liver diseases in childhood — 20 min.
Lavrova Alla Evgenievna (Russia)
3. Features of molecular genetic diagnosis of hereditary diseases accompanied by cholestasis syndrome — 20 min.
Semenova Natalia Aleksandrovna (Russia)
Strokova Tatiana Viktorovna (Russia)
2. Differential diagnosis of cholestatic liver diseases in childhood — 20 min.
Lavrova Alla Evgenievna (Russia)
3. Features of molecular genetic diagnosis of hereditary diseases accompanied by cholestasis syndrome — 20 min.
Semenova Natalia Aleksandrovna (Russia)
1. New approaches to DNA diagnostics of hereditary lung diseases —15 min.
Shchagina Olga Anatolyevna (Russia)
2. Neonatal screening for cystic fibrosis — 15 min.
Shadrina Vera Vladislavovna (Russia)
3. Primary ciliary dyskinesia: new diagnostic possibilities — 15 min.
Kondratieva Elena Ivanovna (Russia)
4. Clinical and immunological features of cystic fibrosis in children living in the Andijan region of the Republic of Uzbekistan — 15 min.
Musakhodjaeva Diloram Abdullaevna, co-author Azizova Z.Sh. (Uzbekistan)
Shchagina Olga Anatolyevna (Russia)
2. Neonatal screening for cystic fibrosis — 15 min.
Shadrina Vera Vladislavovna (Russia)
3. Primary ciliary dyskinesia: new diagnostic possibilities — 15 min.
Kondratieva Elena Ivanovna (Russia)
4. Clinical and immunological features of cystic fibrosis in children living in the Andijan region of the Republic of Uzbekistan — 15 min.
Musakhodjaeva Diloram Abdullaevna, co-author Azizova Z.Sh. (Uzbekistan)
1. Targeted therapy in the Russian Federation. Summarizing 2 years of results — 20 min.
Kondratieva Elena Ivanovna (Russia)
2. Safety control of targeted therapy — 20 min.
Shadrina Vera Vladislavovna (Russia)
3. Targeted therapy in clinical examples — 20 min.
Voronkova Anna Yurievna (Russia)
Kondratieva Elena Ivanovna (Russia)
2. Safety control of targeted therapy — 20 min.
Shadrina Vera Vladislavovna (Russia)
3. Targeted therapy in clinical examples — 20 min.
Voronkova Anna Yurievna (Russia)
1. Long-term experience in observing patients with cystic fibrosis — 15 min.
Shamsiev Furkat Mukhitdinovich (Uzbekistan)
2. A clinical case from pulmonology practice: detection of a CFTR gene mutation — 15 min.
Raufov Alisher Anvarovich, co-author Faizullaeva N.Ya. (Uzbekistan)
3. Cystic fibrosis: from diagnosis to lung transplantation — 15 min.
Punin Alexander Alekseevich (Russia)
4. CFTR modulators in the treatment of cystic fibrosis. Clinical observations — 15 min.
Molotkov Artem Olegovich (Russia)
Shamsiev Furkat Mukhitdinovich (Uzbekistan)
2. A clinical case from pulmonology practice: detection of a CFTR gene mutation — 15 min.
Raufov Alisher Anvarovich, co-author Faizullaeva N.Ya. (Uzbekistan)
3. Cystic fibrosis: from diagnosis to lung transplantation — 15 min.
Punin Alexander Alekseevich (Russia)
4. CFTR modulators in the treatment of cystic fibrosis. Clinical observations — 15 min.
Molotkov Artem Olegovich (Russia)
1. Opening remarks — 5 min.
Namazova-Baranova Leyla Seymurovna (Russia)
2. Epidermolysis bullosa: different faces of one disease — 15 min.
Porshina Oksana Vladimirovna (Russia)
3. Red flags of alpha-mannosidosis — 15 min.
Vashakmadze Nato Jumberovna (Russia)
4. Early diagnosis for achieving the goal in HoFH — 15 min.
Leontyeva Irina Viktorovna (Russia)
5. Discussion - 10 min.
Namazova-Baranova Leyla Seymurovna (Russia)
2. Epidermolysis bullosa: different faces of one disease — 15 min.
Porshina Oksana Vladimirovna (Russia)
3. Red flags of alpha-mannosidosis — 15 min.
Vashakmadze Nato Jumberovna (Russia)
4. Early diagnosis for achieving the goal in HoFH — 15 min.
Leontyeva Irina Viktorovna (Russia)
5. Discussion - 10 min.
1. Topic to be specified — 20 min.
Hegai Tatiana Rudolfovna (Uzbekistan), co-authors: Aripova T.U. (Uzbekistan), Kutsev S.I. (Russia), Lavrov A.V. (Uzbekistan)
2. Organization of medical and social care for children with hereditary genetic diseases in Uzbekistan — 20 min.
Akhmedova Dilorom Ilkhamovna (Uzbekistan)
3. Experience of the Charitable Foundation of the Republic of Uzbekistan in providing assistance to patients with thalassemia and their parents — 20 min.
Davronov Firuz (Uzbekistan)
Hegai Tatiana Rudolfovna (Uzbekistan), co-authors: Aripova T.U. (Uzbekistan), Kutsev S.I. (Russia), Lavrov A.V. (Uzbekistan)
2. Organization of medical and social care for children with hereditary genetic diseases in Uzbekistan — 20 min.
Akhmedova Dilorom Ilkhamovna (Uzbekistan)
3. Experience of the Charitable Foundation of the Republic of Uzbekistan in providing assistance to patients with thalassemia and their parents — 20 min.
Davronov Firuz (Uzbekistan)
1. Organization of medical care for children with SMA in Uzbekistan — 12 min.
Shamansurov Shaanvar Shamuradovich, co-author Akhmejanova D.B. (Uzbekistan)
2. Genome editing in the treatment of hereditary muscular dystrophies — 12 min.
Levchenko Olga Alexandrovna (Russia)
3. Diagnosis of Duchenne muscular dystrophy in Uzbekistan — 12 min.
Akhmedov Ilkhom Rakhimzhanovich (Uzbekistan)
4. Mitochondrial DNA depletion syndrome type 2 — 12 min.
Presentation supported by "Promix" company
Kurbatov Sergey Alexandrovich (Russia)
5. Experience in treating patients with SMA 5q in Uzbekistan — 12 min.
Shamsiddinova Markhabo Anvarovna (Uzbekistan)
1. Main groups of hereditary diseases with clinical manifestations in newborns and infants — 15 min.
Dadali Elena Leonidovna (Russia)
2. Hereditary diseases accompanied by muscular hypotonia in newborns and infants — 15 min.
Sharkova Inna Valentinovna (Russia)
3. Congenital joint contractures in hereditary diseases. Phenotypic manifestations and methods of differential diagnosis — 15 min.
Melnik Evgenia Alexandrovna (Russia)
4. Main phenotypes of hereditary skeletal dysplasias in newborns and infants — 15 min.
Markova Tatiana Vladimirovna (Russia)
Dadali Elena Leonidovna (Russia)
2. Hereditary diseases accompanied by muscular hypotonia in newborns and infants — 15 min.
Sharkova Inna Valentinovna (Russia)
3. Congenital joint contractures in hereditary diseases. Phenotypic manifestations and methods of differential diagnosis — 15 min.
Melnik Evgenia Alexandrovna (Russia)
4. Main phenotypes of hereditary skeletal dysplasias in newborns and infants — 15 min.
Markova Tatiana Vladimirovna (Russia)
1. Algorithm for diagnosing hereditary neuromuscular diseases in Uzbekistan — 12 min.
Shamsiddinova Markhabo Anvarovna (Uzbekistan)
2. Difficulties in diagnosing mitochondrial diseases — 12 min.
Tsygankova Polina Georgievna (Russia)
3. Differential diagnosis of hereditary intellectual development disorders — 12 min.
Levchenko Olga Alexandrovna (Russia)
4. Issues of differential diagnosis of hereditary myopathies — 12 min.
Murtazina Aisylu Fanzirovna (Russia)
5. Strategy for clinical and molecular genetic diagnosis of hereditary neuropathies — 12 min.
Subbotin Dmitry Mikhailovich (Russia)
Shamsiddinova Markhabo Anvarovna (Uzbekistan)
2. Difficulties in diagnosing mitochondrial diseases — 12 min.
Tsygankova Polina Georgievna (Russia)
3. Differential diagnosis of hereditary intellectual development disorders — 12 min.
Levchenko Olga Alexandrovna (Russia)
4. Issues of differential diagnosis of hereditary myopathies — 12 min.
Murtazina Aisylu Fanzirovna (Russia)
5. Strategy for clinical and molecular genetic diagnosis of hereditary neuropathies — 12 min.
Subbotin Dmitry Mikhailovich (Russia)
1. Experience of using the Russian biosimilar of eculizumab in real clinical practice and results of the observational study ECU-PNH-N01 —20 min.
Ptushkin Vadim Vadimovich (Russia)
2. Diagnosis and treatment of aHUS in children — 20 min.
Tsygin Alexey Nikolaevich (Russia)
3. Experience of using the Russian biosimilar of imiglucerase in children with Gaucher disease — 20 min.
Smetanina Natalia Sergeevna (Russia)
Ptushkin Vadim Vadimovich (Russia)
2. Diagnosis and treatment of aHUS in children — 20 min.
Tsygin Alexey Nikolaevich (Russia)
3. Experience of using the Russian biosimilar of imiglucerase in children with Gaucher disease — 20 min.
Smetanina Natalia Sergeevna (Russia)
1. Alagille syndrome: what we know about this multifaced and complex disease? — 20 min.
Presentation supported by "Biomedica" company
Emmanuel Gonzales (France)
2. Orphan pathology: Cystic fibrosis - present and future — 20 min.
Shamsiev Furkat Mukhitdinovich, co-author Uzakova Sh.B. (Uzbekistan)
3. Small intestine dysfunction in patients with cystic fibrosis: review of current data and research results — 20 min.
Geller Svetlana Igorevna, co-author Kamilova O.T. (Uzbekistan)
Presentation supported by "Biomedica" company
Emmanuel Gonzales (France)
2. Orphan pathology: Cystic fibrosis - present and future — 20 min.
Shamsiev Furkat Mukhitdinovich, co-author Uzakova Sh.B. (Uzbekistan)
3. Small intestine dysfunction in patients with cystic fibrosis: review of current data and research results — 20 min.
Geller Svetlana Igorevna, co-author Kamilova O.T. (Uzbekistan)
1. Rare liver diseases — 15 min.
Gruzdev Ivan Sergeevich (Russia)
2. Difficulties in diagnosis and treatment of lysosomal acid lipase deficiency and possibilities for their solution based on a clinical example — 15 min.
Khaymenova Tatiana Yurievna (Russia)
3. Wilson-Konovalov disease: problems of routing drug provision for patients and ways to solve them — 15 min.
Nikolskaya Karine Akselievna (Russia)
4. Rare pancreatic diseases — 15 min.
Kondratiev Evgeny Valerievich (Russia)
Gruzdev Ivan Sergeevich (Russia)
2. Difficulties in diagnosis and treatment of lysosomal acid lipase deficiency and possibilities for their solution based on a clinical example — 15 min.
Khaymenova Tatiana Yurievna (Russia)
3. Wilson-Konovalov disease: problems of routing drug provision for patients and ways to solve them — 15 min.
Nikolskaya Karine Akselievna (Russia)
4. Rare pancreatic diseases — 15 min.
Kondratiev Evgeny Valerievich (Russia)
1. Innovative cellular immunotherapy using NK cells & CAR-based cells for Muliple Myeloma in Hematological malignancies — 30 min.
Je-Jung Lee (South Korea)
2. 2. Gene therapy for Hemophilia: global trends and prospects — 20 min.
Presentation supported by "BIOCAD" company
Ptushkin Vadim Vadimovich (Russia)
3. Discussion — 10 min.
Je-Jung Lee (South Korea)
2. 2. Gene therapy for Hemophilia: global trends and prospects — 20 min.
Presentation supported by "BIOCAD" company
Ptushkin Vadim Vadimovich (Russia)
3. Discussion — 10 min.
1. Colorectal cancer screening using risk groups — 15 min.
Shelygin Iurii Anatolyevich (Russia)
2. Clinical and genetic heterogeneity of hereditary cancer syndromes — 15 min.
Mikhailenko Dmitry Sergeevich (Russia)
3. Homologous recombination deficiencies in breast and ovarian cancer — 15 min.
Kekeeva Tatiana Vladimirovna (Russia)
4. Algorithm for molecular genetic diagnosis of neurofibromatosis — 15 min.
Strelnikov Vladimir Viktorovich (Russia)
Shelygin Iurii Anatolyevich (Russia)
2. Clinical and genetic heterogeneity of hereditary cancer syndromes — 15 min.
Mikhailenko Dmitry Sergeevich (Russia)
3. Homologous recombination deficiencies in breast and ovarian cancer — 15 min.
Kekeeva Tatiana Vladimirovna (Russia)
4. Algorithm for molecular genetic diagnosis of neurofibromatosis — 15 min.
Strelnikov Vladimir Viktorovich (Russia)
1. General principles of diet therapy for inherited metabolic disorders — 15 min.
Bushueva Tatiana Vladimirovna (Russia)
2. Diet therapy for IMD in the Republic of Kazakhstan: current challenges and development prospects — 15 min.
Murtazalieva Alexandra Vladimirovna (Kazakhstan)
3. A family case of isovaleric aciduria — 15 min.
Kekeeva Tatiana Nikolaevna (Russia)
4. Modern personalized approach to diagnosis and treatment of patients with orphan pathology using data analysis from the HPA/PKU registry. From population to individual — 15 min.
Shestopalova Elena Andreevna (Russia)
Bushueva Tatiana Vladimirovna (Russia)
2. Diet therapy for IMD in the Republic of Kazakhstan: current challenges and development prospects — 15 min.
Murtazalieva Alexandra Vladimirovna (Kazakhstan)
3. A family case of isovaleric aciduria — 15 min.
Kekeeva Tatiana Nikolaevna (Russia)
4. Modern personalized approach to diagnosis and treatment of patients with orphan pathology using data analysis from the HPA/PKU registry. From population to individual — 15 min.
Shestopalova Elena Andreevna (Russia)
1. Biomarkers in the diagnosis of inherited metabolic disorders — 20 min.
Zakharova Ekaterina Yurievna (Russia)
2. Peroxisomal diseases – from clinical symptoms to molecular diagnosis — 20 min.
Baranova Polina Vladimirovna (Russia)
3. Panel sequencing: when to conduct, whom to prescribe, and how to interpret — 20 min.
Nagornova Tatiana Sergeevna (Russia)
Zakharova Ekaterina Yurievna (Russia)
2. Peroxisomal diseases – from clinical symptoms to molecular diagnosis — 20 min.
Baranova Polina Vladimirovna (Russia)
3. Panel sequencing: when to conduct, whom to prescribe, and how to interpret — 20 min.
Nagornova Tatiana Sergeevna (Russia)
1. Curable myopathy in real clinical practice — 25 min.
Klyushnikov Sergey Anatolyevich (Russia)
2. Differential diagnosis of Gaucher disease and Niemann-Pick disease type B: clinical examples — 25 min.
Movsisyan Goar Borisovna (Russia)
3. Discussion — 10 min.
Klyushnikov Sergey Anatolyevich (Russia)
2. Differential diagnosis of Gaucher disease and Niemann-Pick disease type B: clinical examples — 25 min.
Movsisyan Goar Borisovna (Russia)
3. Discussion — 10 min.
1. Peculiarities of diagnosing inherited metabolic disorders in Kyrgyzstan. Clinical cases — 15 min.
Dovlotova Gulzar Seyitbekovna (Kyrgyzstan), co-author Vasilevskaya N.M. (Kyrgyzstan)
2. Leukodystrophies and leukoencephalopathies: genetic testing using targeted sequencing — 15 min.
Nagornov Ilya Olegovich (Russia)
3. Sialuria: diagnostic possibilities for an ultra-rare hereditary metabolic disorder — 15 min.
Gusina Asya Alexandrovna (Belarus)
4. Clinical and molecular genetic features of phenylketonuria in Uzbekistan — 15 min.
Pak Antonina Alikovna (Uzbekistan)
Dovlotova Gulzar Seyitbekovna (Kyrgyzstan), co-author Vasilevskaya N.M. (Kyrgyzstan)
2. Leukodystrophies and leukoencephalopathies: genetic testing using targeted sequencing — 15 min.
Nagornov Ilya Olegovich (Russia)
3. Sialuria: diagnostic possibilities for an ultra-rare hereditary metabolic disorder — 15 min.
Gusina Asya Alexandrovna (Belarus)
4. Clinical and molecular genetic features of phenylketonuria in Uzbekistan — 15 min.
Pak Antonina Alikovna (Uzbekistan)
1. Status of diagnosis and therapy of patients with inborn errors of immunity in the Republic of Uzbekistan — 15 min.
Ismailova Adolat Abdurahimovna, co-authors Aripova T.U., Kasimova M.S. (Uzbekistan)
2. Diversity of clinical manifestations of primary immunodeficiencies and genetic diagnostics — 15 min.
Nasrullaeva Gulnara Magomed Ali kyzy (Azerbaijan)
3. The factor of primary immunodeficiency in the structure of neoplasms (0–14 years in the Kyrgyz Republic) —15 min.
Orozbekova Bubusaira Tolobaevna (Kyrgyzstan)
4. Status of diagnosis and treatment of children with primary immunodeficiencies in the Aral Sea region —15 min.
Matkarimova Alima Abuovna, co-author Ismailova A.A. (Uzbekistan)
Ismailova Adolat Abdurahimovna, co-authors Aripova T.U., Kasimova M.S. (Uzbekistan)
2. Diversity of clinical manifestations of primary immunodeficiencies and genetic diagnostics — 15 min.
Nasrullaeva Gulnara Magomed Ali kyzy (Azerbaijan)
3. The factor of primary immunodeficiency in the structure of neoplasms (0–14 years in the Kyrgyz Republic) —15 min.
Orozbekova Bubusaira Tolobaevna (Kyrgyzstan)
4. Status of diagnosis and treatment of children with primary immunodeficiencies in the Aral Sea region —15 min.
Matkarimova Alima Abuovna, co-author Ismailova A.A. (Uzbekistan)
1. The importance of mitochondrial pathology in the occurrence of strokes in children — 12 min.
Saidazizova Shakhlo Khibziddinovna, co-author Nazarova S.O. (Uzbekistan)
2. Leigh syndrome - the most common form of mitochondrial diseases in children. Clinical and laboratory diagnostics — 12 min.
Artamonova Irina Nikitichna (Russia)
3. Laboratory diagnostics of adult forms of mitochondrial ocular myopathies — 12 min.
Tsygankova Polina Georgievna (Russia)
4. MELAS syndrome - features of the molecular defect. How not to miss the diagnosis — 12 min.
Itkis Yulia Sergeevna (Russia)
5. Leber's hereditary optic neuropathy (LHON) - molecular genetic diagnostics — 12 min.
Krylova Tatiana Dmitrievna (Russia)
Saidazizova Shakhlo Khibziddinovna, co-author Nazarova S.O. (Uzbekistan)
2. Leigh syndrome - the most common form of mitochondrial diseases in children. Clinical and laboratory diagnostics — 12 min.
Artamonova Irina Nikitichna (Russia)
3. Laboratory diagnostics of adult forms of mitochondrial ocular myopathies — 12 min.
Tsygankova Polina Georgievna (Russia)
4. MELAS syndrome - features of the molecular defect. How not to miss the diagnosis — 12 min.
Itkis Yulia Sergeevna (Russia)
5. Leber's hereditary optic neuropathy (LHON) - molecular genetic diagnostics — 12 min.
Krylova Tatiana Dmitrievna (Russia)
1. Modern concept of inborn errors of immunity — 12 min.
Shcherbina Anna Yurievna (Russia)
2. Diagnostic pathway for a patient with an inborn error of immunity — 12 min.
Kuzmenko Natalia Borisovna (Russia)
3. Spectrum of inborn errors of immunity detected through screening — 12 min.
Mukhina Anna Alexandrovna (Russia)
4. Role of lymphocyte immunophenotyping in the diagnosis of inborn errors of immunity — 12 min.
Pershin Dmitry Evgenievich (Russia)
5. Achievements in the era of targeted therapy for inborn errors of immunity — 12 min.
Rodina Yulia Alexandrovna (Russia)
Shcherbina Anna Yurievna (Russia)
2. Diagnostic pathway for a patient with an inborn error of immunity — 12 min.
Kuzmenko Natalia Borisovna (Russia)
3. Spectrum of inborn errors of immunity detected through screening — 12 min.
Mukhina Anna Alexandrovna (Russia)
4. Role of lymphocyte immunophenotyping in the diagnosis of inborn errors of immunity — 12 min.
Pershin Dmitry Evgenievich (Russia)
5. Achievements in the era of targeted therapy for inborn errors of immunity — 12 min.
Rodina Yulia Alexandrovna (Russia)
1. Optimization of diagnosis and treatment of hemophilia in Uzbekistan — 15 min.
Makhmudova Aziza Dzhumanovna (Uzbekistan)
2. Analysis of primary incidence of thalassemia in the Republic of Uzbekistan based on molecular genetic studies — 15 min.
Mamatkulova Dilrukh Faizullaevna (Uzbekistan)
3. Problems and possible solutions to improve the quality of life of patients with hemophilia — 15 min.
Berger Inna Viktorovna (Uzbekistan)
4. New horizons in the treatment of hemophilia — 15 min.
Akhrarova Naima Kobulovna (Uzbekistan)
Makhmudova Aziza Dzhumanovna (Uzbekistan)
2. Analysis of primary incidence of thalassemia in the Republic of Uzbekistan based on molecular genetic studies — 15 min.
Mamatkulova Dilrukh Faizullaevna (Uzbekistan)
3. Problems and possible solutions to improve the quality of life of patients with hemophilia — 15 min.
Berger Inna Viktorovna (Uzbekistan)
4. New horizons in the treatment of hemophilia — 15 min.
Akhrarova Naima Kobulovna (Uzbekistan)
1. Features of clinical manifestations and problems of chelation therapy in patients with thalassemia in childhood and adulthood —12 min.
Suleymanova Dilora Nagalovna (Uzbekistan)
2. The role of mutational changes in the development of Thalassemia — 12 min.
Davlatova Gulchehra Nazhmiddinovna (Uzbekistan)
3. The role of NGS in the diagnosis of hereditary platelet disorders — 12 min.
Mersiyanova Irina Viktorovna, co-author Zharkov P.A. (Russia)
4. Shwachman-Diamond syndrome — 12 min.
Deordieva Ekaterina Anatolyevna (Russia)
5. Algorithm for genetic diagnosis of rare coagulopathies — 12 min.
Pshenichnikova Olesya Sergeevna (Russia)
Suleymanova Dilora Nagalovna (Uzbekistan)
2. The role of mutational changes in the development of Thalassemia — 12 min.
Davlatova Gulchehra Nazhmiddinovna (Uzbekistan)
3. The role of NGS in the diagnosis of hereditary platelet disorders — 12 min.
Mersiyanova Irina Viktorovna, co-author Zharkov P.A. (Russia)
4. Shwachman-Diamond syndrome — 12 min.
Deordieva Ekaterina Anatolyevna (Russia)
5. Algorithm for genetic diagnosis of rare coagulopathies — 12 min.
Pshenichnikova Olesya Sergeevna (Russia)
1. Spectrum of genetic defects in hereditary hemolytic anemias in Russia — 15 min.
Mann Svetlana Gennadievna, co-authors Raikina E.V., Sokolova N.E. (Russia)
2. Rare coagulopathies in Russia — 15 min.
Florinsky Dmitry Borisovich (Russia)
3. Hereditary hemolytic anemia due to glucose phosphate isomerase deficiency — 15 min.
Kuzminova Zhanna Andreevna (Russia)
4. Thrombocytopathies and thrombocytopenias with predisposition to MDS/AML — 15 min.
Fedorova Daria Viktorovna (Russia)
Mann Svetlana Gennadievna, co-authors Raikina E.V., Sokolova N.E. (Russia)
2. Rare coagulopathies in Russia — 15 min.
Florinsky Dmitry Borisovich (Russia)
3. Hereditary hemolytic anemia due to glucose phosphate isomerase deficiency — 15 min.
Kuzminova Zhanna Andreevna (Russia)
4. Thrombocytopathies and thrombocytopenias with predisposition to MDS/AML — 15 min.
Fedorova Daria Viktorovna (Russia)
1. Congenital epidermolysis bullosa: yesterday, today and tomorrow — 15 min.
Sabirov Ulugbek Yusupkhanovich (Uzbekistan)
2. Diagnosis and treatment of Netherton syndrome — 15 min.
Rakhmatov Akram Baratovich (Uzbekistan)
3. Innovative technologies for external therapy of congenital epidermolysis bullosa — 15 min.
Khaldarbekov Madamin Karimzhanovich (Uzbekistan)
4. Improving the health management of orphan patients through the implementation of an innovative model of medical and social support — 15 min.
Iosifova Anastasia Alexandrovna (Russia)
Sabirov Ulugbek Yusupkhanovich (Uzbekistan)
2. Diagnosis and treatment of Netherton syndrome — 15 min.
Rakhmatov Akram Baratovich (Uzbekistan)
3. Innovative technologies for external therapy of congenital epidermolysis bullosa — 15 min.
Khaldarbekov Madamin Karimzhanovich (Uzbekistan)
4. Improving the health management of orphan patients through the implementation of an innovative model of medical and social support — 15 min.
Iosifova Anastasia Alexandrovna (Russia)
1. Drug repurposing for ichthyosis and palmoplantar keratodermas — 10 min.
Edel O'Toole (Great Britain)
2. Possibilities of gene therapy for patients with epidermolysis bullosa — 20 min.
Presentation supported by "Swixx Healthcare" company
Murashkin Nikolai Nikolaevich (Russia)
3. Rare genodermatoses in international practice — 10 min.
Kvlividze Oleg (Georgia)
4. Preventive measures for complications of genodermatoses, using the example of epidermolysis bullosa — 10 min.
Belonogova Elena Georgievna (Russia)
5. Digital interactive session on genodermatoses — 10 min.
Kuratova Alyona Alexandrovna (Russia)
Edel O'Toole (Great Britain)
2. Possibilities of gene therapy for patients with epidermolysis bullosa — 20 min.
Presentation supported by "Swixx Healthcare" company
Murashkin Nikolai Nikolaevich (Russia)
3. Rare genodermatoses in international practice — 10 min.
Kvlividze Oleg (Georgia)
4. Preventive measures for complications of genodermatoses, using the example of epidermolysis bullosa — 10 min.
Belonogova Elena Georgievna (Russia)
5. Digital interactive session on genodermatoses — 10 min.
Kuratova Alyona Alexandrovna (Russia)
1. Development of a digital contour model for orphan patients as an effective decision support system using genodermatoses as an example — 20 min.
Kuratova Alyona Alexandrovna (Russia)
2. Tools for expanding patient access to innovative therapy — 20 min.
Presentation supported by "Aston Health" company
Ivanov Alexander Viktorovich (Russia)
3. Organization and support of monitoring congenital malformations in the Republic of Belarus — 20 min.
Naumchik Irina Vsevolodovna (Belarus)
Kuratova Alyona Alexandrovna (Russia)
2. Tools for expanding patient access to innovative therapy — 20 min.
Presentation supported by "Aston Health" company
Ivanov Alexander Viktorovich (Russia)
3. Organization and support of monitoring congenital malformations in the Republic of Belarus — 20 min.
Naumchik Irina Vsevolodovna (Belarus)
Participants: Aripova Tamara Uktamovna (Uzbekistan), Nadyrkhanova Natalia Suratovna (Uzbekistan), Pribushenya Oksana Vladimirorovna (Belarus), Abildinova Gulshara Zhusupovna (Kazakhstan), Guseinov Rustam (Azerbaijan), Kutsev Sergey Ivanovich (Russia), Lavrov Alexander Vyacheslavovich ((Uzbekistan)
Participants:
Ryzhkova Oksana Petrovna (Russia)
Levchina Anna Konstantinovna (Russia)
Grin Oleg Sergeevich (Russia)
1. Ethical and legal issues of modern genetics in the Republic of Belarus — 12 min.
Pribushenya Oksana Vladimirovna (Belarus)
Questions:
1. Content of information for obtaining consent for testing: a laboratory geneticist's view.
2. Content of information for obtaining consent for testing: a lawyer's view.
3. Specifics of informing patients about testing: a geneticist's view.
4. Specifics of informing patients about testing: a psychologist's view.
Ryzhkova Oksana Petrovna (Russia)
Levchina Anna Konstantinovna (Russia)
Grin Oleg Sergeevich (Russia)
1. Ethical and legal issues of modern genetics in the Republic of Belarus — 12 min.
Pribushenya Oksana Vladimirovna (Belarus)
Questions:
1. Content of information for obtaining consent for testing: a laboratory geneticist's view.
2. Content of information for obtaining consent for testing: a lawyer's view.
3. Specifics of informing patients about testing: a geneticist's view.
4. Specifics of informing patients about testing: a psychologist's view.
1. Retinoblastoma as a model of interdisciplinary interaction — 15 min.
Ushakova Tatiana Leonidovna, co-author Polyakov V.G. (Russia)
2. Selective intra-arterial chemotherapy as a method of targeted chemotherapy for retinoblastoma — 15 min.
Pogrebnyakov Igor Vladimirovich, co-author Dolgushin B.I. (Russia)
3. Treatment of children with retinoblastoma without pain —15 min.
Belousova Ekaterina Igorevna (Russia)
4. Modern molecular genetic diagnosis of retinoblastoma and features of manifestation of various types of RB1 gene mutations — 15 min.
Strelnikov Vladimir Viktorovich, co-author Alekseeva E.A. (Russia)
Ushakova Tatiana Leonidovna, co-author Polyakov V.G. (Russia)
2. Selective intra-arterial chemotherapy as a method of targeted chemotherapy for retinoblastoma — 15 min.
Pogrebnyakov Igor Vladimirovich, co-author Dolgushin B.I. (Russia)
3. Treatment of children with retinoblastoma without pain —15 min.
Belousova Ekaterina Igorevna (Russia)
4. Modern molecular genetic diagnosis of retinoblastoma and features of manifestation of various types of RB1 gene mutations — 15 min.
Strelnikov Vladimir Viktorovich, co-author Alekseeva E.A. (Russia)
1. The role of CMA and NGS in the diagnosis of orphan diseases in Kyrgyzstan. Clinical cases — 20 min.
Kurmanalieva Meerim Almazbekovna (Kyrgyzstan)
2. Non-selective neonatal screening for 48 pathologies: results of a study of 30,000 newborns in Uzbekistan — 20 min.
Fedyakov Mikhail Andreevich (Uzbekistan)
3. Genomic sequencing in routine diagnostic practice — 20 min.
Ryzhkova Oksana Petrovna (Russia)
Kurmanalieva Meerim Almazbekovna (Kyrgyzstan)
2. Non-selective neonatal screening for 48 pathologies: results of a study of 30,000 newborns in Uzbekistan — 20 min.
Fedyakov Mikhail Andreevich (Uzbekistan)
3. Genomic sequencing in routine diagnostic practice — 20 min.
Ryzhkova Oksana Petrovna (Russia)
1. The role of genetic data in the treatment of aortic diseases — 12 min.
Zaklyazminskaya Elena Valerievna (Russia)
2. Frequency and features of cardiomyopathies in children living in different regions of Uzbekistan — 12 min.
Ruzmatova Dilfuza Mirzabaevna, co-author Akhmedova D.I. (Uzbekistan)
3. From sudden death to accurate diagnosis: logistics of genetic testing using one family as an example — 12 min.
Levandovskaya Natalia Pavlovna (Russia)
4. DNA diagnostics of arrhythmogenic cardiomyopathy — 12 min.
Shestak Anna Gennadievna (Russia)
5. X-linked dilated cardiomyopathy in the highland region of Tajikistan — 12 min.
Sulaimonov Kh.M., Azimshoeva U.M. (Russia, Tajikistan)
Zaklyazminskaya Elena Valerievna (Russia)
2. Frequency and features of cardiomyopathies in children living in different regions of Uzbekistan — 12 min.
Ruzmatova Dilfuza Mirzabaevna, co-author Akhmedova D.I. (Uzbekistan)
3. From sudden death to accurate diagnosis: logistics of genetic testing using one family as an example — 12 min.
Levandovskaya Natalia Pavlovna (Russia)
4. DNA diagnostics of arrhythmogenic cardiomyopathy — 12 min.
Shestak Anna Gennadievna (Russia)
5. X-linked dilated cardiomyopathy in the highland region of Tajikistan — 12 min.
Sulaimonov Kh.M., Azimshoeva U.M. (Russia, Tajikistan)
1. Personalized approaches to treatment and rehabilitation of children with systemic onset juvenile arthritis — 12 min.
Akhmedova Dilоrоm Ilkhamovna (Uzbekistan)
2. Monogenic autoinflammatory diseases: ABC of medical genetics for rheumatologists — 12 min.
Salugina Svetlana Olegovna (Russia)
3. Kaleidoscope of manifestations of Familial Mediterranean Fever in rheumatologist practice: genotype-phenotype-comorbidity — 12 min.
Kostik Mikhail Mikhailovich (Russia)
4. Monogenic diseases of heterotopic ossification as a rheumatological problem — 12 min.
Nikishina Irina Petrovna (Russia)
5. Rheumatological manifestations of genetic diseases: obvious and probable — 12 min.
Matkava Valeria Georgievna (Russia)
Akhmedova Dilоrоm Ilkhamovna (Uzbekistan)
2. Monogenic autoinflammatory diseases: ABC of medical genetics for rheumatologists — 12 min.
Salugina Svetlana Olegovna (Russia)
3. Kaleidoscope of manifestations of Familial Mediterranean Fever in rheumatologist practice: genotype-phenotype-comorbidity — 12 min.
Kostik Mikhail Mikhailovich (Russia)
4. Monogenic diseases of heterotopic ossification as a rheumatological problem — 12 min.
Nikishina Irina Petrovna (Russia)
5. Rheumatological manifestations of genetic diseases: obvious and probable — 12 min.
Matkava Valeria Georgievna (Russia)
1. Genetics of hereditary deafness in the Kazakh population — 12 min.
Svyatova Gulnara Salavatovna (Kazakhstan)
2. Acute Leukemia and pregnancy: a rare condition with a rare disease — 12 min
Iskhakov Eldor Djasurovich (Uzbekistan)
3. Clinical presentation and early diagnosis of neuronal ceroid Lipofuscinosis Type 2 — 20 min.
Presentation supported by LLC "Swixx Healthcare" company
Mikhailova Svetlana Vitalievna (Russia)
4. Reproductive potential of a patient with epidermolysis bullosa — 12 min.
Oganisyan Oganes Artashesovich (Armenia)
Svyatova Gulnara Salavatovna (Kazakhstan)
2. Acute Leukemia and pregnancy: a rare condition with a rare disease — 12 min
Iskhakov Eldor Djasurovich (Uzbekistan)
3. Clinical presentation and early diagnosis of neuronal ceroid Lipofuscinosis Type 2 — 20 min.
Presentation supported by LLC "Swixx Healthcare" company
Mikhailova Svetlana Vitalievna (Russia)
4. Reproductive potential of a patient with epidermolysis bullosa — 12 min.
Oganisyan Oganes Artashesovich (Armenia)
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International Hotel Tashkent
107A Amir Temur Avenue, Tashkent, Uzbekistan
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