The Fourth International Forum
on the Diagnosis and Treatment
of Hereditary Rare Diseases
on the Diagnosis and Treatment
of Hereditary Rare Diseases
Commonwealth Without Borders
Moscow Federal State Unitary Enterprise Rossiya Segodnya International Information Agency
October 23–24
2025 moscow
event completed
Georgia
Republic
of Uzbekistan
of Uzbekistan
Republic
of Belarus
of Belarus
Republic
of Kazakhstan
of Kazakhstan
Republic
of Azerbaijan
of Azerbaijan
Kyrgyz
Republic
Republic
Russian Federation
Республика Таджикистан
Туркменистан
Chief scientific and technical organizer
Chief Scientific Organizer
About the 2025 Forum
The event will bring together
countries
24
from
specialists
medical geneticists, pediatricians, ophthalmologists, cardiologists, orthopedic traumatologists, general practitioners, rheumatologists, obstetricians-gynecologists, neurologists, oncologists, hematologists, dermatovenerologists, gastroenterologists, psychiatrists, clinical psychologists, rehabilitologists, allergists-immunologists,
endocrinologists, nephrologists, pulmonologists, neurosurgeons, functional diagnostics specialists, and healthcare administrators
Program
October 24
October 23
1. Aspects of Preconception Screening from the Perspective of Reproductive Genetics — 20 min.
Trofimov Dmitry Yurievich (Russia)
2. Folates, Genes, and Pregnancy: Genetic Aspects of Pre-gravid Screening — 20 min.
Svyatova Gulnara Salavatovna (Kazakhstan)
3. Results of the Implementation of the Pilot Project on Preconception Genetic Screening "Family" in St. Petersburg — 20 min.
Nasykhova Yulia Almazovna, co-author A.S. Glotov (Russia)
Trofimov Dmitry Yurievich (Russia)
2. Folates, Genes, and Pregnancy: Genetic Aspects of Pre-gravid Screening — 20 min.
Svyatova Gulnara Salavatovna (Kazakhstan)
3. Results of the Implementation of the Pilot Project on Preconception Genetic Screening "Family" in St. Petersburg — 20 min.
Nasykhova Yulia Almazovna, co-author A.S. Glotov (Russia)
1. Opportunities and Challenges of Non-Invasive Prenatal Testing — 15 min.
Kaplanova Madina Tamerlanovna (Russia)
2. Problems of Mosaicism in Prenatal Diagnosis — 15 min.
Gnetetskaia Valentina Anatolevna (Russia)
3. Specifics of Prenatal Screening for Hereditary and Congenital Diseases in Multiple Pregnancies — 15 min.
Pribushenya Oksana Vladimirovna (Belarus)
4. Modernization of Prenatal Screening. Organization of a "One-Day Clinic" within a Perinatal Center — 15 min.
Abildinova Gulshara Zhusupovna (Kazakhstan)
Kaplanova Madina Tamerlanovna (Russia)
2. Problems of Mosaicism in Prenatal Diagnosis — 15 min.
Gnetetskaia Valentina Anatolevna (Russia)
3. Specifics of Prenatal Screening for Hereditary and Congenital Diseases in Multiple Pregnancies — 15 min.
Pribushenya Oksana Vladimirovna (Belarus)
4. Modernization of Prenatal Screening. Organization of a "One-Day Clinic" within a Perinatal Center — 15 min.
Abildinova Gulshara Zhusupovna (Kazakhstan)
1. Neonatal Screening for X-Linked Adrenoleukodystrophy: From Test to Therapy – 15 min.
Baranova Polina Vladimirovna, Mikhailova S.V., Zakharova E.Y. (Russia)
2. Neonatal Screening for Aromatic Amino Acid Decarboxylase (AADC) Deficiency: Screening and Confirmatory Diagnosis Algorithms – 10 min.
Zakharova Ekaterina Yurievna (Russia)
3. Experience with Selective Screening for Lysosomal Storage Diseases in St. Petersburg – 20 min.
Talova Daria Mikhailovna, co-author Lobenetskaya A.Yu. (Russia)
4. Lysosomal Storage Diseases in the Focus of Screening – 15 min.
Baidakova Galina Viktorovna (Russia)
Baranova Polina Vladimirovna, Mikhailova S.V., Zakharova E.Y. (Russia)
2. Neonatal Screening for Aromatic Amino Acid Decarboxylase (AADC) Deficiency: Screening and Confirmatory Diagnosis Algorithms – 10 min.
Zakharova Ekaterina Yurievna (Russia)
3. Experience with Selective Screening for Lysosomal Storage Diseases in St. Petersburg – 20 min.
Talova Daria Mikhailovna, co-author Lobenetskaya A.Yu. (Russia)
4. Lysosomal Storage Diseases in the Focus of Screening – 15 min.
Baidakova Galina Viktorovna (Russia)
Participants:
Voronin Sergey Vladimirovich (Russia), Marakhоnov Andrey Vladimirovich (Russia), Mukhina Anna Aleksandrovna (Russia), Shchagina Olga Anatolievna (Russia), Mukhortova Polina Aleksandrovna (Russia), Baidakova Galina Viktorovna (Russia)
Voronin Sergey Vladimirovich (Russia), Marakhоnov Andrey Vladimirovich (Russia), Mukhina Anna Aleksandrovna (Russia), Shchagina Olga Anatolievna (Russia), Mukhortova Polina Aleksandrovna (Russia), Baidakova Galina Viktorovna (Russia)
1. The Role of Whole-Genome Sequencing in Expanded Neonatal Screening — 15 min.
Marakhоnov Andrey Vladimirovich (Russia)
2. HSCT in STAT3 Loss-of-Function — An International Study — 15 min.
Andrew Gennery (United Kingdom)
3. Unexpected Genetic Findings — 15 min.
Vakhlyarskaya Svetlana Sergeevna (Russia)
4. DNA Repair Deficiency Syndromes — 15 min.
Mukhina Anna Aleksandrovna (Russia)
Marakhоnov Andrey Vladimirovich (Russia)
2. HSCT in STAT3 Loss-of-Function — An International Study — 15 min.
Andrew Gennery (United Kingdom)
3. Unexpected Genetic Findings — 15 min.
Vakhlyarskaya Svetlana Sergeevna (Russia)
4. DNA Repair Deficiency Syndromes — 15 min.
Mukhina Anna Aleksandrovna (Russia)
1. RMRP Gene Defects – What Has Screening Revealed? — 15 min.
Yuhacheva Daria Valerievna (Russia)
2. General Characteristics of Patients with NBAS Defects from an Immunological Perspective — 15 min.
Avedova Asmik Yakovlevna (Russia)
3. Founder Mutations Among Inborn Errors of Immunity — 15 min.
Sharapova Svetlana Olegovna (Belarus)
4. Is Louis-Bar Syndrome So Simple? Specifics of Molecular Genetic Diagnosis — 15 min.
Marakhоnov Andrey Vladimirovich (Russia)
Yuhacheva Daria Valerievna (Russia)
2. General Characteristics of Patients with NBAS Defects from an Immunological Perspective — 15 min.
Avedova Asmik Yakovlevna (Russia)
3. Founder Mutations Among Inborn Errors of Immunity — 15 min.
Sharapova Svetlana Olegovna (Belarus)
4. Is Louis-Bar Syndrome So Simple? Specifics of Molecular Genetic Diagnosis — 15 min.
Marakhоnov Andrey Vladimirovich (Russia)
Moderator:
Kutsev Sergey Ivanovich – President of the Association of Medical Geneticists of Russia, Director of the Research Centre for Medical Genetics
Welcome Addresses:
Pyshny Dmitry Vladimirovich – Deputy Minister of Science and Higher Education of the Russian Federation
Bashankaev Badma Nikolaevich – First Deputy Chairman of the State Duma Committee on Health Protection of the Federal Assembly of the Russian Federation
Piradov Mikhail Aleksandrovich – Vice-President of the Russian Academy of Sciences
Rumyantsev Alexander Grigorievich – President of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of the Ministry of Health of Russia
Namazova-Baranova Leila Seimurovna – President of the Union of Pediatricians of Russia, Professor at MSU-PPI Joint University in Shenzhen (China)
Solemn Award Ceremony: Presentation of the Research Centre for Medical Genetics Gold Medal to Professor Severinov Konstantin Viktorovich "For Outstanding Contribution to the Development of Medical Genetics"
Presentations:
1. Whole-Genome Studies of Ethnic Groups in the Russian Federation: Scientific and Clinical Significance — 25 min.
Severinov Konstantin Viktorovich (Russia)
2. ADVANCES IN MEDICAL GENETICS: From Mendel’s Peas to Disease Cures — 25 min.
Robert J. Desnick (USA)
3. What Can a Pediatrician Tell a Geneticist? — 25 min
Namazova-Baranova Leila Seimurovna (Russia)
4. Ethnic Aspects of Hereditary Syndromes: Descriptive Epidemiology, Diagnostics, Healthcare Organization — 20 min.
Imyanitov Evgeny Naumovich (Russia)
5. Modern Russian Biotechnological Solutions in the Diagnosis and Therapy of Rare Diseases — 15 min.
Kudlay Dmitry Anatolievich (Russia)
Kutsev Sergey Ivanovich – President of the Association of Medical Geneticists of Russia, Director of the Research Centre for Medical Genetics
Welcome Addresses:
Pyshny Dmitry Vladimirovich – Deputy Minister of Science and Higher Education of the Russian Federation
Bashankaev Badma Nikolaevich – First Deputy Chairman of the State Duma Committee on Health Protection of the Federal Assembly of the Russian Federation
Piradov Mikhail Aleksandrovich – Vice-President of the Russian Academy of Sciences
Rumyantsev Alexander Grigorievich – President of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of the Ministry of Health of Russia
Namazova-Baranova Leila Seimurovna – President of the Union of Pediatricians of Russia, Professor at MSU-PPI Joint University in Shenzhen (China)
Solemn Award Ceremony: Presentation of the Research Centre for Medical Genetics Gold Medal to Professor Severinov Konstantin Viktorovich "For Outstanding Contribution to the Development of Medical Genetics"
Presentations:
1. Whole-Genome Studies of Ethnic Groups in the Russian Federation: Scientific and Clinical Significance — 25 min.
Severinov Konstantin Viktorovich (Russia)
2. ADVANCES IN MEDICAL GENETICS: From Mendel’s Peas to Disease Cures — 25 min.
Robert J. Desnick (USA)
3. What Can a Pediatrician Tell a Geneticist? — 25 min
Namazova-Baranova Leila Seimurovna (Russia)
4. Ethnic Aspects of Hereditary Syndromes: Descriptive Epidemiology, Diagnostics, Healthcare Organization — 20 min.
Imyanitov Evgeny Naumovich (Russia)
5. Modern Russian Biotechnological Solutions in the Diagnosis and Therapy of Rare Diseases — 15 min.
Kudlay Dmitry Anatolievich (Russia)
Participants:
Osmanov Ismail Magomedovich (Russia), Naumchik Irina Vsevolodovna (Belarus), Vasilyeva Natalya Mikhailovna (Kyrgyzstan), Omurzakova Saikal Ernisbekovna (Kyrgyzstan), Voronin Sergey Vladimirovich (Russia)
1. Current Capabilities for Maintaining and Supporting Russian Federation Registers — 15 min.
Presentation supported by Aston Health
Koshkarova Elena Anatolyevna (Russia)
Discussion — 15 min.
2. Rare Disease Centers as a Successful Model for Providing Medical Care to Patients with Hereditary Diseases — 15 min.
Voronin Sergey Vladimirovich (Russia)
Discussion — 15 min.
Osmanov Ismail Magomedovich (Russia), Naumchik Irina Vsevolodovna (Belarus), Vasilyeva Natalya Mikhailovna (Kyrgyzstan), Omurzakova Saikal Ernisbekovna (Kyrgyzstan), Voronin Sergey Vladimirovich (Russia)
1. Current Capabilities for Maintaining and Supporting Russian Federation Registers — 15 min.
Presentation supported by Aston Health
Koshkarova Elena Anatolyevna (Russia)
Discussion — 15 min.
2. Rare Disease Centers as a Successful Model for Providing Medical Care to Patients with Hereditary Diseases — 15 min.
Voronin Sergey Vladimirovich (Russia)
Discussion — 15 min.
Participants: Oleg Kvlivideze (Georgia), Leonov Sergey Dmitrievich (Russia), Kutsev Sergey Ivanovich (Russia), Bogdanova Valeriya Olegovna (Russia), Abildinova Gulshara Zhusupovna (Kazakhstan), Pribushenya Oksana Vladimirovna (Belarus), Zhevneronok Irina Vladimirovna (Belarus)
1. Analysis of Clinical Manifestations and Genetic Basis of 110 Cases of Klinefelter Syndrome — 15 min.
Bespalyuk Daria Alekseevna, co-authors Chugunov I.S., Chernykh V.B. (Russia)
2. Molecular Genetic Basis of Congenital GH-Deficiency in Children in Russia: A 10-Year Analysis under the "Alpha-Endo" Program — 15 min.
Raikina Elizaveta Nikolaevna, co-author Pankratova M.S. (Russia)
3. Clinical Variants of Diceropathies in Children — 15 min.
Novokreschennykh Evgenia Eduardovna, co-author Kolodkina A.A. (Russia)
4. Hyperinsulinism Caused by Biallelic Mutation of the YARS Gene — 15 min.
Bolmasova Anna Viktorovna, co-author Yanar E.A. (Russia)
Bespalyuk Daria Alekseevna, co-authors Chugunov I.S., Chernykh V.B. (Russia)
2. Molecular Genetic Basis of Congenital GH-Deficiency in Children in Russia: A 10-Year Analysis under the "Alpha-Endo" Program — 15 min.
Raikina Elizaveta Nikolaevna, co-author Pankratova M.S. (Russia)
3. Clinical Variants of Diceropathies in Children — 15 min.
Novokreschennykh Evgenia Eduardovna, co-author Kolodkina A.A. (Russia)
4. Hyperinsulinism Caused by Biallelic Mutation of the YARS Gene — 15 min.
Bolmasova Anna Viktorovna, co-author Yanar E.A. (Russia)
1. Hereditary Metabolic Diseases in the Structure of GCMF in Russian Children – 15 min.
Gandaeva Leila Akhatovna, co-author Zharova O.P. (Russia)
2. Features of Diagnosis and Therapy of Niemann-Pick Disease, Types A/B in the Russian Federation – 15 min.
Movsisyan Goar Borisovna (Russia)
3. Extra-Renal Manifestations in Hereditary Kidney Diseases – 15 min.
Milovanova Anastasia Mikhailovna (Russia)
4. Use of High-Throughput Sequencing Technology in Selective Screening Programs for Orphan Diseases – 15 min.
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Gandaeva Leila Akhatovna, co-author Zharova O.P. (Russia)
2. Features of Diagnosis and Therapy of Niemann-Pick Disease, Types A/B in the Russian Federation – 15 min.
Movsisyan Goar Borisovna (Russia)
3. Extra-Renal Manifestations in Hereditary Kidney Diseases – 15 min.
Milovanova Anastasia Mikhailovna (Russia)
4. Use of High-Throughput Sequencing Technology in Selective Screening Programs for Orphan Diseases – 15 min.
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1. Progeroid Syndrome in Children: Clinical Case Demonstration – 15 min.
Tikhonovich Yulia Viktorovna (Russia)
2. Hypothalamic Obesity Following Treatment of Tumors in the Chiasmatic-Sellar Region – 20 min.
Presentation supported by Irvin 2 LLC
Kalinin Alexey Leonidovich (Russia)
3. Associated Pathology in Patients with Achondroplasia: Clinical Examples – 15 min.
Vorontsova Inna Gennadievna (Russia)
4. Discussion — 10 min.
Tikhonovich Yulia Viktorovna (Russia)
2. Hypothalamic Obesity Following Treatment of Tumors in the Chiasmatic-Sellar Region – 20 min.
Presentation supported by Irvin 2 LLC
Kalinin Alexey Leonidovich (Russia)
3. Associated Pathology in Patients with Achondroplasia: Clinical Examples – 15 min.
Vorontsova Inna Gennadievna (Russia)
4. Discussion — 10 min.
1. Hereditary Ovarian Cancer in the Republic of Belarus: Bridging Scientific Research and Clinical Practice – 20 min.
Savonevich Elena Leontyevna (Belarus)
2. BRCA-Associated Hereditary Oncological Syndrome – 20 min.
Kekeeva Tatyana Vladimirovna (Russia)
3. Personalized Approach to Managing Patients with Hereditary Oncological Syndromes – 20 min.
Filippova Margarita Gennadievna (Russia)
Savonevich Elena Leontyevna (Belarus)
2. BRCA-Associated Hereditary Oncological Syndrome – 20 min.
Kekeeva Tatyana Vladimirovna (Russia)
3. Personalized Approach to Managing Patients with Hereditary Oncological Syndromes – 20 min.
Filippova Margarita Gennadievna (Russia)
1. Hereditary Ovarian Cancer in the Republic of Belarus: Bridging Scientific Research and Clinical Practice – 20 min.
Savonevich Elena Leontyevna (Belarus)
2. BRCA-Associated Hereditary Oncological Syndrome – 20 min.
Kekeeva Tatyana Vladimirovna (Russia)
3. Personalized Approach to Managing Patients with Hereditary Oncological Syndromes – 20 min.
Filippova Margarita Gennadievna (Russia)
Savonevich Elena Leontyevna (Belarus)
2. BRCA-Associated Hereditary Oncological Syndrome – 20 min.
Kekeeva Tatyana Vladimirovna (Russia)
3. Personalized Approach to Managing Patients with Hereditary Oncological Syndromes – 20 min.
Filippova Margarita Gennadievna (Russia)
1. Diagnosis of Hereditary Kidney Cancer – 20 min.
Mikhaylenko Dmitry Sergeyevich (Russia)
2. Modern Diagnosis of Hereditary Colorectal Cancer Syndromes – 20 min.
Tsukanov Alexey Sergeyevich (Russia)
3. Long-Term Experience of Collaboration Between Geneticists and Morphologists in Constantly Changing Conditions: A Complex Case and an International Tumor Board for One Patient – 20 min.
Shved Nina Viktorovna (Russia)
Mikhaylenko Dmitry Sergeyevich (Russia)
2. Modern Diagnosis of Hereditary Colorectal Cancer Syndromes – 20 min.
Tsukanov Alexey Sergeyevich (Russia)
3. Long-Term Experience of Collaboration Between Geneticists and Morphologists in Constantly Changing Conditions: A Complex Case and an International Tumor Board for One Patient – 20 min.
Shved Nina Viktorovna (Russia)
1. Hematopoietic Cell Transplantation for Hereditary Diseases – 20 min.
Kulagin Alexander Dmitrievich (Russia)
2. CAR-T Cell Therapy for B-Cell Malignancies: Russian Realities and Prospects – 20 min.
Bogolyubova-Kuznetsova Apollinaria Vasilievna (Russia)
3. Gene Therapy for Cystic Fibrosis Based on Genome Editing Methods – 20 min.
Smirnikhina Svetlana Anatolievna (Russia)
Kulagin Alexander Dmitrievich (Russia)
2. CAR-T Cell Therapy for B-Cell Malignancies: Russian Realities and Prospects – 20 min.
Bogolyubova-Kuznetsova Apollinaria Vasilievna (Russia)
3. Gene Therapy for Cystic Fibrosis Based on Genome Editing Methods – 20 min.
Smirnikhina Svetlana Anatolievna (Russia)
1. From Symptom to Solution: Autoinflammatory Diseases — 15 min.
Yakov Berkun (Israel)
2. Autoinflammatory Diseases: From Molecular Mechanisms to Therapeutic Strategies — 15 min.
Alekseeva Ekaterina Iosifovna (Russia)
3. Fibrodysplasia Ossificans Progressiva — State of the Art — 15 min.
Nikishina Irina Petrovna (Russia)
Yakov Berkun (Israel)
2. Autoinflammatory Diseases: From Molecular Mechanisms to Therapeutic Strategies — 15 min.
Alekseeva Ekaterina Iosifovna (Russia)
3. Fibrodysplasia Ossificans Progressiva — State of the Art — 15 min.
Nikishina Irina Petrovna (Russia)
1. Current Approaches to the Diagnosis and Therapy of Phenylketonuria: Russian Experience
Bushueva Tatyana Vladimirovna (Russia)
2. Experience in Managing PKU Patients in Georgia: Sepiapterin — New Opportunities in PKU Treatment
Margvelashvili Lali (Georgia)
3. Psychological Support for Phenylketonuria Patients – One of the Key Success Factors
Mazurova Nadezhda Vladimirovna (Russia)
Bushueva Tatyana Vladimirovna (Russia)
2. Experience in Managing PKU Patients in Georgia: Sepiapterin — New Opportunities in PKU Treatment
Margvelashvili Lali (Georgia)
3. Psychological Support for Phenylketonuria Patients – One of the Key Success Factors
Mazurova Nadezhda Vladimirovna (Russia)
Participants: Vashakmadze Nato Dzumberovna (Russia), Tokenova Zhannur Nurlanovna (Kazakhstan), Pshenichnikova Irina Igorevna (Russia), Ivanova-Razumova Tatyana Vladimirovna (Kazakhstan), Koksharova Ekaterina Olegovna (Russia), Durmanova Aigul Kalibaevna (Kazakhstan)
1. Genetic Aspects of Neurofibromatosis — 15 minutes
Strelnikov Vladimir Viktorovich (Russia)
2. NF Registry: A Tool for Improving Healthcare Delivery — 15 minutes
Vasilyev Petr Andreevich (Russia)
3. Plexiform Neurofibromas: Clinical Challenges and New Therapeutic Solutions — 20 minutes
Makashova Elizaveta Sergeevna (Russia)
4. Panel Discussion: Strategic Issues in Organizing Care for NF1 Patients — 10 minutes
Strelnikov Vladimir Viktorovich (Russia)
2. NF Registry: A Tool for Improving Healthcare Delivery — 15 minutes
Vasilyev Petr Andreevich (Russia)
3. Plexiform Neurofibromas: Clinical Challenges and New Therapeutic Solutions — 20 minutes
Makashova Elizaveta Sergeevna (Russia)
4. Panel Discussion: Strategic Issues in Organizing Care for NF1 Patients — 10 minutes
1. Clinical Manifestations and Diagnosis of AADC Deficiency: Modern Approaches – 20 min.
Zakharova Ekaterina Yuryevna (Russia)
2. Experience in Managing Patients with AADC Deficiency – 20 min.
Mikhailova Svetlana Vitalievna (Russia)
3. New Treatment Perspectives – 15 min.
Reshchikov Dmitry Alexandrovich (Russia)
4. Discussion – 5 min.
Zakharova Ekaterina Yuryevna (Russia)
2. Experience in Managing Patients with AADC Deficiency – 20 min.
Mikhailova Svetlana Vitalievna (Russia)
3. New Treatment Perspectives – 15 min.
Reshchikov Dmitry Alexandrovich (Russia)
4. Discussion – 5 min.
1.Opening Remarks – 5 min.
Sagaydak Olesya Vladimirovna (Russia), Yudina Evgenia Vladimirovna (Russia)
2. Modern Diagnosis of Monogenic Disorders in Children: Results of 9000 WGS – 13 min.
Doroshchuk Natalia Alexandrovna (Russia)
3. The Advantage of Exome Sequencing in the Diagnosis of Rare Diseases – 13 min.
Glotov Oleg Sergeevich (Russia)
4. Genetic Markers of Reproductive Disorders in the Era of Whole-Genome Technologies – 13 min.
Brusentsova Yulia Viktorovna (Russia)
5. Expanding the Limits of NGS: A Revolutionary Solution for Clinical Genome Sequencing – 10 min.
Natalin Pavel Borisovich (Russia)
6. Discussion – 6 min.
Sagaydak Olesya Vladimirovna (Russia), Yudina Evgenia Vladimirovna (Russia)
2. Modern Diagnosis of Monogenic Disorders in Children: Results of 9000 WGS – 13 min.
Doroshchuk Natalia Alexandrovna (Russia)
3. The Advantage of Exome Sequencing in the Diagnosis of Rare Diseases – 13 min.
Glotov Oleg Sergeevich (Russia)
4. Genetic Markers of Reproductive Disorders in the Era of Whole-Genome Technologies – 13 min.
Brusentsova Yulia Viktorovna (Russia)
5. Expanding the Limits of NGS: A Revolutionary Solution for Clinical Genome Sequencing – 10 min.
Natalin Pavel Borisovich (Russia)
6. Discussion – 6 min.
1. Opportunities of the Russian Biopharmaceutical Industry in Shaping the Country's Pharmaceutical Independence — 20 min.
Presentation supported by PROMOMED DM LLC
Zaslavskaya Kira Yakovlevna (Russia)
2. Reproduced Nusinersen in the Therapy of Adult Patients with SMA: Clinical Experience of the Russian Center of Neurology and Neurosciences — 20 min.
Klyushnikov Sergey Anatolievich (Russia)
3. Genetic medicine pipeline programs for rare genetic diseases of the muscle — 20 min.
Rachel Salazar (USA)
Presentation supported by PROMOMED DM LLC
Zaslavskaya Kira Yakovlevna (Russia)
2. Reproduced Nusinersen in the Therapy of Adult Patients with SMA: Clinical Experience of the Russian Center of Neurology and Neurosciences — 20 min.
Klyushnikov Sergey Anatolievich (Russia)
3. Genetic medicine pipeline programs for rare genetic diseases of the muscle — 20 min.
Rachel Salazar (USA)
1. Awareness of Clinicians in Practice: Borderline TREC/KREC Values
Geraskin Aleksey Igorevich (Russia)
2. Incidental Findings of Expanded Neonatal Screening for SMA 5q
Akhkyamova Maria Albertovna (Russia)
3. AlmassNeo: Realities and Prospects — 20 min.
Steshin Maksim Olegovich (Russia)
Geraskin Aleksey Igorevich (Russia)
2. Incidental Findings of Expanded Neonatal Screening for SMA 5q
Akhkyamova Maria Albertovna (Russia)
3. AlmassNeo: Realities and Prospects — 20 min.
Steshin Maksim Olegovich (Russia)
1. Current Issues of Diagnostic Programs for Identifying Patients with Progressive Duchenne Muscular Dystrophy and 5q Spinal Muscular Atrophy – 20 min.
Presentation supported by Roche-Moscow JSC
Voronin Sergey Vladimirovich (Russia)
2. Key Takeaways from Many Years of Experience in Providing Medical Care to Patients with Neuronal Ceroid Lipofuscinosis Type 2 – 20 min.
Presentation supported by Swixx Healthcare LLC
Mikhailova Svetlana Vitalievna (Russia)
3. Report on SMA/Duchenne Registries – 15 min.
Presentation supported by Aston Health
Speaker to be confirmed
Presentation supported by Roche-Moscow JSC
Voronin Sergey Vladimirovich (Russia)
2. Key Takeaways from Many Years of Experience in Providing Medical Care to Patients with Neuronal Ceroid Lipofuscinosis Type 2 – 20 min.
Presentation supported by Swixx Healthcare LLC
Mikhailova Svetlana Vitalievna (Russia)
3. Report on SMA/Duchenne Registries – 15 min.
Presentation supported by Aston Health
Speaker to be confirmed
1. Challenges in the Transition of Care for Patients with Orphan Diseases from Pediatric to Adult Services – 20 min.
Strokova Tatiana Viktorovna (Russia)
2. Features of Differential Diagnosis of Hereditary Cholestatic Liver Diseases in Children – 20 min.
Semenova Natalia Alexandrovna (Russia)
3. Challenges in the Diagnosis of USP53-Associated Cholestasis in Children – 20 min.
Nuzhnaya Ekaterina Yuryevna (Russia)
Strokova Tatiana Viktorovna (Russia)
2. Features of Differential Diagnosis of Hereditary Cholestatic Liver Diseases in Children – 20 min.
Semenova Natalia Alexandrovna (Russia)
3. Challenges in the Diagnosis of USP53-Associated Cholestasis in Children – 20 min.
Nuzhnaya Ekaterina Yuryevna (Russia)
1. Hereditary Eye Pathology in the Russian Federation: Fundamental Principles of Diagnosis and Treatment – 20 min.
Kadyshev Vitaly Viktorovich (Russia)
2. Hereditary Orphan Syndromic Eye Disorders in the Ophthalmology of the Republic of Belarus – 20 min.
Krasilnikova Viktoria Leonidovna (Belarus)
3. Levels of Therapeutic Response to Intravitreal Drug Administration Considering VEGF-A Gene Polymorphisms in Patients with Age-Related Macular Degeneration – 20 min.
Karimova Muyassar Khamitovna (Uzbekistan)
Kadyshev Vitaly Viktorovich (Russia)
2. Hereditary Orphan Syndromic Eye Disorders in the Ophthalmology of the Republic of Belarus – 20 min.
Krasilnikova Viktoria Leonidovna (Belarus)
3. Levels of Therapeutic Response to Intravitreal Drug Administration Considering VEGF-A Gene Polymorphisms in Patients with Age-Related Macular Degeneration – 20 min.
Karimova Muyassar Khamitovna (Uzbekistan)
1. Opportunities for DNA Diagnostics of Hereditary Retinal Degenerations at the Current Stage – 10 min.
Stepanova Anna Alexandrovna (Russia)
2. Leber's Hereditary Optic Neuropathy – Optic Atrophy with Available Therapy – 20 min.
Presentation supported by Chiesi Pharmaceuticals LLS
Kadyshev Vitaly Viktorovich (Russia)
3. Genetic Pathology of the Organ of Vision and Hearing – 10 min.
Kuznetsova Svetlana Viktorovna (Russia)
4. Interdisciplinary Approach to Orphan Ophthalmic Pathology: Neurotrophic Keratitis – From Theory to Practice – 20 min.
Kadyshev Vitaly Viktorovich (Russia)
Stepanova Anna Alexandrovna (Russia)
2. Leber's Hereditary Optic Neuropathy – Optic Atrophy with Available Therapy – 20 min.
Presentation supported by Chiesi Pharmaceuticals LLS
Kadyshev Vitaly Viktorovich (Russia)
3. Genetic Pathology of the Organ of Vision and Hearing – 10 min.
Kuznetsova Svetlana Viktorovna (Russia)
4. Interdisciplinary Approach to Orphan Ophthalmic Pathology: Neurotrophic Keratitis – From Theory to Practice – 20 min.
Kadyshev Vitaly Viktorovich (Russia)
1. Spastic Paraplegia Caused by a Variant in the Mitochondrial Genome — 15 min.
Sharkova Inna Valentinovna (Russia)
2. Rare Duo: Simultaneous Involvement of Nuclear and Mitochondrial DNA — 15 min.
Melnik Evgenia Alexandrovna (Russia)
3. Charcot-Marie-Tooth Neuropathy Type 2EE – A Rare Mitochondrial Disease Associated with the MPV17 Gene — 15 min.
Kuryakova Natalia Borisovna (Russia)
4. A rare autosomal recessive mitochondrial disorder associated with the SUPV3L1 gene, not yet annotated in the OMIM catalog – 15 min.
Dadali Elena Leonidovna (Russia)
Sharkova Inna Valentinovna (Russia)
2. Rare Duo: Simultaneous Involvement of Nuclear and Mitochondrial DNA — 15 min.
Melnik Evgenia Alexandrovna (Russia)
3. Charcot-Marie-Tooth Neuropathy Type 2EE – A Rare Mitochondrial Disease Associated with the MPV17 Gene — 15 min.
Kuryakova Natalia Borisovna (Russia)
4. A rare autosomal recessive mitochondrial disorder associated with the SUPV3L1 gene, not yet annotated in the OMIM catalog – 15 min.
Dadali Elena Leonidovna (Russia)
1. Disorders of Fatty Acid Oxidation: What's New in Therapy? – 20 min.
Sufin Yap (UK)
2. Management of Families with Organic Aciduria in Uzbekistan (Clinical Cases) – 15 min.
Pak Antonina Alikovna (Uzbekistan)
3. Diet Therapy as a Leading Therapeutic Strategy: Analysis and Prospects Based on Clinical Registry Data – 7 min.
Shestopalova Elena Andreevna (Russia)
4. Have Treatment Goals Been Achieved? Unmet Needs of PKU Patients and Physician's Questions! — 20 min.
Presentation supported by PTC Therapeutics LLC
Shestopalova Elena Andreevna (Russia)
Sufin Yap (UK)
2. Management of Families with Organic Aciduria in Uzbekistan (Clinical Cases) – 15 min.
Pak Antonina Alikovna (Uzbekistan)
3. Diet Therapy as a Leading Therapeutic Strategy: Analysis and Prospects Based on Clinical Registry Data – 7 min.
Shestopalova Elena Andreevna (Russia)
4. Have Treatment Goals Been Achieved? Unmet Needs of PKU Patients and Physician's Questions! — 20 min.
Presentation supported by PTC Therapeutics LLC
Shestopalova Elena Andreevna (Russia)
1. Practical Aspects of Diagnosing MPS IVa and VI Types – 20 min.
Presentation supported by Swixx Healthcare LLC
Markova Tatiana Vladimirovna (Russia)
2. From "Phenotype to Gene": An Algorithm for Diagnosing Skeletal Ciliopathies in Medical Practice – 15 min.
Morgul Anna Romanovna (Russia)
3. Spectrum of Mutations in Type I Collagen Genes in Belarusian Patients with Osteogenesis Imperfecta – 15 min.
Morozik Pavel Mikhailovich (Belarus)
4. FOP: Modern Concepts of Diagnostic and Treatment Methods – 15 min.
Rustamov Khushnud Khusainovich (Uzbekistan)
Presentation supported by Swixx Healthcare LLC
Markova Tatiana Vladimirovna (Russia)
2. From "Phenotype to Gene": An Algorithm for Diagnosing Skeletal Ciliopathies in Medical Practice – 15 min.
Morgul Anna Romanovna (Russia)
3. Spectrum of Mutations in Type I Collagen Genes in Belarusian Patients with Osteogenesis Imperfecta – 15 min.
Morozik Pavel Mikhailovich (Belarus)
4. FOP: Modern Concepts of Diagnostic and Treatment Methods – 15 min.
Rustamov Khushnud Khusainovich (Uzbekistan)
1. International Standards and Russian Clinical Guidelines for Palliative Care for Children with Orphan Diseases – 20 min.
Polevichenko Elena Vladimirovna (Russia)
2. Palliative Care for Children with Neuromuscular Diseases in the Republic of Belarus – 20 min.
Bomberova Lyudmila Alexandrovna (Belarus), Menshikova Elizaveta Andreevna (Belarus)
3. Experience in Organizing Palliative Care for Children with Orphan Diseases in the Moscow Region – 20 min.
Ishutin Andrey Alexandrovich (Russia)
Polevichenko Elena Vladimirovna (Russia)
2. Palliative Care for Children with Neuromuscular Diseases in the Republic of Belarus – 20 min.
Bomberova Lyudmila Alexandrovna (Belarus), Menshikova Elizaveta Andreevna (Belarus)
3. Experience in Organizing Palliative Care for Children with Orphan Diseases in the Moscow Region – 20 min.
Ishutin Andrey Alexandrovich (Russia)
1. Gene Therapy Today: Not a Dream, But a Reality – 15 min.
Polyakov Alexander Vladimirovich (Russia)
2. Targeted Therapy for Hereditary Ophthalmic Pathology in the Russian Federation – 15 min.
Kadyshev Vitaly Viktorovich (Russia)
3. Gene Therapy for Muscular Dystrophies and its Prospects – 15 min.
Vlodavets Dmitry Vladimirovich (Russia)
4. Gene Therapy for Metachromatic Leukodystrophy: Mechanisms, Achievements, and Prospects – 15 min.
Mikhailova Svetlana Vitalievna (Russia)
Polyakov Alexander Vladimirovich (Russia)
2. Targeted Therapy for Hereditary Ophthalmic Pathology in the Russian Federation – 15 min.
Kadyshev Vitaly Viktorovich (Russia)
3. Gene Therapy for Muscular Dystrophies and its Prospects – 15 min.
Vlodavets Dmitry Vladimirovich (Russia)
4. Gene Therapy for Metachromatic Leukodystrophy: Mechanisms, Achievements, and Prospects – 15 min.
Mikhailova Svetlana Vitalievna (Russia)
1. Genetic Determination of Glutathione Metabolism Disorders in Atherosclerosis - 25 min.
Polonikov Alexey Valerievich (Russia)
2. A Genetic Footprint in the Heart: How Blood Mutations Affect Heart Failure - 25 min.
Nazarenko Maria Sergeevna, co-authors Sleptsov A.A., Puzyrev V.P. (Russia)
3. Discussion - 10 min.
Polonikov Alexey Valerievich (Russia)
2. A Genetic Footprint in the Heart: How Blood Mutations Affect Heart Failure - 25 min.
Nazarenko Maria Sergeevna, co-authors Sleptsov A.A., Puzyrev V.P. (Russia)
3. Discussion - 10 min.
1. Experience with Transcranial Magnetic Stimulation in the Rehabilitation of Children with Type 1 Diabetes — 15 min.
Kapranova Marta Anatolyevna (Russia)
2. Supporting Psychological Well-being in Children and Adolescents with Orphan Diseases — 15 min.
Selivanova Yana Andreevna (Russia)
3. Play or Therapy? Integrating Physical Therapy Methods in the Rehabilitation of Children with SMA — 15 min.
Bakhodurova Khushnuda Azizovna (Russia)
4. A Personalized Approach to the Rehabilitation of Children with Orphan Diseases: From Intensive Care to FDRC Korablik — 15 min.
Glazyrina Anastasia Alexandrovna (Russia)
Kapranova Marta Anatolyevna (Russia)
2. Supporting Psychological Well-being in Children and Adolescents with Orphan Diseases — 15 min.
Selivanova Yana Andreevna (Russia)
3. Play or Therapy? Integrating Physical Therapy Methods in the Rehabilitation of Children with SMA — 15 min.
Bakhodurova Khushnuda Azizovna (Russia)
4. A Personalized Approach to the Rehabilitation of Children with Orphan Diseases: From Intensive Care to FDRC Korablik — 15 min.
Glazyrina Anastasia Alexandrovna (Russia)
1. AI in Laboratory Genetics: Is the Future Already Here? - 5 min.
Ryzhkova Oksana Petrovna (Russia)
2. Genomic Analysis with Artificial Intelligence: Applications in Biomedical Field - 15 min.
Fishman Veniamin Semenovich (Russia)
3. Implementing AI in Clinical Genetics Laboratories: Can It Really Change the Situation? - 15 min.
Alex Kaplun (USA)
4. High-Throughput Exome Sequencing: What Is Beyond the Capabilities of Standard Pipelines? - 15 min.
Levdanskiy Oleg Dmitrievich (Belarus)
5. Discussion - 10 min.
Ryzhkova Oksana Petrovna (Russia)
2. Genomic Analysis with Artificial Intelligence: Applications in Biomedical Field - 15 min.
Fishman Veniamin Semenovich (Russia)
3. Implementing AI in Clinical Genetics Laboratories: Can It Really Change the Situation? - 15 min.
Alex Kaplun (USA)
4. High-Throughput Exome Sequencing: What Is Beyond the Capabilities of Standard Pipelines? - 15 min.
Levdanskiy Oleg Dmitrievich (Belarus)
5. Discussion - 10 min.
1. How to Prepare a Modern Clinical Geneticist – 15 min.
Sharova Margarita Viktorovna (Russia)
2. Modern Challenges in Training a Laboratory Geneticist – 15 min.
Shchagina Olga Anatolyevna (Russia)
3. Training a Modern Physician in Practical Oncogenetics – 15 min.
Mikhailenko Dmitry Sergeevich (Russia)
4. Discussion – 15 min.
Sharova Margarita Viktorovna (Russia)
2. Modern Challenges in Training a Laboratory Geneticist – 15 min.
Shchagina Olga Anatolyevna (Russia)
3. Training a Modern Physician in Practical Oncogenetics – 15 min.
Mikhailenko Dmitry Sergeevich (Russia)
4. Discussion – 15 min.
1. Personalized Approach to Managing Patients with Rare Hereditary Pathology - 25 min.
Bushueva Tatyana Vladimirovna (Russia)
2. A Case of Peroxisomal Acyl-CoA Oxidase Deficiency with Polymicrogyria – 10 min.
Kondakova Olga Borisovna (Russia)
3. A Clinical Case of a Rare Lysosomal Storage Disease – 10 min.
Grebenkin Dmitry Igorevich, co-author Davydova Yu.I. (Russia)
4. Cerebral Creatine Deficiency: Experience in Diagnosis and Treatment – 10 min.
Demyanov Semen Valerievich, co-author Gudkova A.P. (Russia)
Bushueva Tatyana Vladimirovna (Russia)
2. A Case of Peroxisomal Acyl-CoA Oxidase Deficiency with Polymicrogyria – 10 min.
Kondakova Olga Borisovna (Russia)
3. A Clinical Case of a Rare Lysosomal Storage Disease – 10 min.
Grebenkin Dmitry Igorevich, co-author Davydova Yu.I. (Russia)
4. Cerebral Creatine Deficiency: Experience in Diagnosis and Treatment – 10 min.
Demyanov Semen Valerievich, co-author Gudkova A.P. (Russia)
1. Medical Genetic Counseling: Opportunities and Issues — 15 min.
Naumchik Irina Vsevolodovna (Belarus)
2. The Role of Medical Genetic Counseling in the Healthcare System — 15 min. Izhevskaya Vera Leonidovna (Russia)
3. How to Deliver Bad News: The Psychology of Genetic Diagnosis Perception —15 min.
Levchina Anna Konstantinovna (Russia)
4. Discussion — 15 min.
Naumchik Irina Vsevolodovna (Belarus)
2. The Role of Medical Genetic Counseling in the Healthcare System — 15 min. Izhevskaya Vera Leonidovna (Russia)
3. How to Deliver Bad News: The Psychology of Genetic Diagnosis Perception —15 min.
Levchina Anna Konstantinovna (Russia)
4. Discussion — 15 min.
1. Ethical Guidelines for Resolving Value Conflicts in Medical Genetics - 15 min.
Bryzgalina Elena Vladimirovna (Russia)
2. Ethical Aspects in Medical Genetic Counseling Practice - 15 min.
Izhevskaya Vera Leonidovna (Russia)
3. Medical Genetics Law: Application of Law and Directions for Legislative Work - 15 min.
Grin Oleg Sergeevich (Russia)
4. Discussion - 15 min.
Bryzgalina Elena Vladimirovna (Russia)
2. Ethical Aspects in Medical Genetic Counseling Practice - 15 min.
Izhevskaya Vera Leonidovna (Russia)
3. Medical Genetics Law: Application of Law and Directions for Legislative Work - 15 min.
Grin Oleg Sergeevich (Russia)
4. Discussion - 15 min.
1. Hereditary Lung Diseases - From Genetics to Therapy — 20 min.
Kondratieva Elena Ivanovna (Russia)
2. Cystic Fibrosis in Adults in Kazakhstan: New Opportunities — 20 min.
Mukatova Irina Yuryevna (Kazakhstan)
3. Overview of the First Primary Ciliary Dyskinesia Registry — 20 min.
Kiyan Tatyana Anatolyevna (Russia)
Kondratieva Elena Ivanovna (Russia)
2. Cystic Fibrosis in Adults in Kazakhstan: New Opportunities — 20 min.
Mukatova Irina Yuryevna (Kazakhstan)
3. Overview of the First Primary Ciliary Dyskinesia Registry — 20 min.
Kiyan Tatyana Anatolyevna (Russia)
1. Molecular Diagnostics in Practical Medicine: What's New? — 5 min.
Ryzhkova Oksana Petrovna (Russia)
2. Molecular Diagnostics of Ataxias: Challenges and Solutions — 15 min.
Vizerov Timofey Viktorovich (Russia)
3. RNA-Level Molecular Diagnostics - 15 min.
Filatova Alexandra Yuryevna (Russia)
4. Episignatures - A New Tool for Diagnosis Confirmation and Variant Interpretation — 15 min.
Volodin Ilya Vladimirovich (Russia)
5. Discussion — 10 min.
Ryzhkova Oksana Petrovna (Russia)
2. Molecular Diagnostics of Ataxias: Challenges and Solutions — 15 min.
Vizerov Timofey Viktorovich (Russia)
3. RNA-Level Molecular Diagnostics - 15 min.
Filatova Alexandra Yuryevna (Russia)
4. Episignatures - A New Tool for Diagnosis Confirmation and Variant Interpretation — 15 min.
Volodin Ilya Vladimirovich (Russia)
5. Discussion — 10 min.
1. A Rare Path: Unveiling the Secrets of a Neurological Case — 20 min.
Muruzheva Zamira Magomedovna (Russia)
2. Beyond Reference Values: A Treatment Strategy for a Child with Extreme Lipid Levels — 20 min.
Pshenichnikova Irina Igorevna (Russia)
3. The Metabolic Puzzle: Piecing Together Symptoms, Phenotype, and Laboratory Findings — 20 min.
Tikhonovich Yulia Viktorovna (Russia)
Muruzheva Zamira Magomedovna (Russia)
2. Beyond Reference Values: A Treatment Strategy for a Child with Extreme Lipid Levels — 20 min.
Pshenichnikova Irina Igorevna (Russia)
3. The Metabolic Puzzle: Piecing Together Symptoms, Phenotype, and Laboratory Findings — 20 min.
Tikhonovich Yulia Viktorovna (Russia)
1. Fabry Disease: Global and Russian Experience in Diagnosis – 20 min.
Zakharova Ekaterina Yuryevna (Russia)
2. At the Heart of the Disease: Cardiac Aspects of Fabry Disease – 20 min.
Zhirov Igor Vitalievich (Russia)
3. From the Creation of the "Gold Standard" Molecule for Fabry Disease Therapy to Real-World Clinical Experience – 20 min.
Robert J. Desnick (USA)
Zakharova Ekaterina Yuryevna (Russia)
2. At the Heart of the Disease: Cardiac Aspects of Fabry Disease – 20 min.
Zhirov Igor Vitalievich (Russia)
3. From the Creation of the "Gold Standard" Molecule for Fabry Disease Therapy to Real-World Clinical Experience – 20 min.
Robert J. Desnick (USA)
1. Modern Diagnostic Capabilities for Hereditary Diseases (Combining Clinical and Molecular Diagnostics) — 15 min.
Serdar Ceylaner (Turkey)
2. DNA Diagnostics of Monogenic Diseases in Russia: Opportunities and Prospects — 15 min.
Shchagina Olga Anatolyevna (Russia)
3. Achievements in the Clinical Application of High-Throughput Chromosomal Sequencing — 15 min.
Wang Xueyan (China)
4. SMA: Selective and Neonatal Screening — 15 min.
Presentation Supported by Novartis Pharma LLC
Shchagina Olga Anatolyevna (Russia)
Serdar Ceylaner (Turkey)
2. DNA Diagnostics of Monogenic Diseases in Russia: Opportunities and Prospects — 15 min.
Shchagina Olga Anatolyevna (Russia)
3. Achievements in the Clinical Application of High-Throughput Chromosomal Sequencing — 15 min.
Wang Xueyan (China)
4. SMA: Selective and Neonatal Screening — 15 min.
Presentation Supported by Novartis Pharma LLC
Shchagina Olga Anatolyevna (Russia)
1. Classification of Hereditary Pathology Associated with Intellectual Disability. Features of Medical Genetic Counseling for Families with Intellectual Disability Caused by Chromosomal Imbalance — 15 min.
Dadali Elena Leonidovna (Russia)
2. Clinico-Genetic Characteristics of Intellectual Disability Type 102 – 15 min.
Anisimova Inga Vadimovna (Russia)
3. Features of Phenotypic Characteristics of Imagawa-Matsumoto Syndrome — 15 min.
Markova Tatyana Vladimirovna (Russia)
4. A Rare Form of X-Linked Intellectual Disability: Pettigrew Syndrome — 15 min.
Melnik Evgenia Alexandrovna (Russia)
Dadali Elena Leonidovna (Russia)
2. Clinico-Genetic Characteristics of Intellectual Disability Type 102 – 15 min.
Anisimova Inga Vadimovna (Russia)
3. Features of Phenotypic Characteristics of Imagawa-Matsumoto Syndrome — 15 min.
Markova Tatyana Vladimirovna (Russia)
4. A Rare Form of X-Linked Intellectual Disability: Pettigrew Syndrome — 15 min.
Melnik Evgenia Alexandrovna (Russia)
1. Innovative Technologies in the Treatment of Mucopolysaccharidosis Type II: First Results — 20 min.
Vashakmadze Nato Dzumberovna (Russia)
2. Congenital Disorders of Glycosylation in Pediatric Practice — 20 min.
Zhurkova Natalia Vyacheslavovna (Russia)
3. Variability of Clinical Manifestations in Patients with Rett Syndrome — 20 min.
Popova Veronika Mikhailovna (Russia)
Vashakmadze Nato Dzumberovna (Russia)
2. Congenital Disorders of Glycosylation in Pediatric Practice — 20 min.
Zhurkova Natalia Vyacheslavovna (Russia)
3. Variability of Clinical Manifestations in Patients with Rett Syndrome — 20 min.
Popova Veronika Mikhailovna (Russia)
1. Malignant Hyperthermia as an Orphan Pharmacogenetic Phenomenon: How to Prevent It? — 20 min.
Baranova Elena Evgenievna , co-authors: D.A. Sychev (Russia)
2. Assessment of Specific Efficacy of Candidate Drugs for Gene Therapy of Limb-Girdle Muscular Dystrophies (LGMD-R2, LGMD-R9) — 20 min.
Limaev Igor Sergeevich co-authors: I. Sorochany, I.A. Yakovlev, R.V. Deev (Russia)
3. Scientific and Theoretical Approaches to the Development of Gene Therapy for Fibrodysplasia Ossificans Progressiva — 20 min.
Kopylov Evgeny Dmitrievich co-authors: A.V. Eremeev, R.V. Deev (Russia)
Baranova Elena Evgenievna , co-authors: D.A. Sychev (Russia)
2. Assessment of Specific Efficacy of Candidate Drugs for Gene Therapy of Limb-Girdle Muscular Dystrophies (LGMD-R2, LGMD-R9) — 20 min.
Limaev Igor Sergeevich co-authors: I. Sorochany, I.A. Yakovlev, R.V. Deev (Russia)
3. Scientific and Theoretical Approaches to the Development of Gene Therapy for Fibrodysplasia Ossificans Progressiva — 20 min.
Kopylov Evgeny Dmitrievich co-authors: A.V. Eremeev, R.V. Deev (Russia)
1. Differential Diagnosis of Skeletal Dysplasias: How Not to Miss Achondroplasia — 25 min.
Markova Tatyana Vladimirovna (Russia)
2. Disorders of Growth Regulation in Systemic Skeletal Dysplasias and Possibilities for Their Correction — 25 min.
Kenis Vladimir Markovich (Russia)
3. Discussion — 10 min.
Kenis Vladimir Markovich (Russia), Markova Tatyana Vladimirovna (Russia)
Markova Tatyana Vladimirovna (Russia)
2. Disorders of Growth Regulation in Systemic Skeletal Dysplasias and Possibilities for Their Correction — 25 min.
Kenis Vladimir Markovich (Russia)
3. Discussion — 10 min.
Kenis Vladimir Markovich (Russia), Markova Tatyana Vladimirovna (Russia)
1. Experience with Idursulfase Beta for Intracerebroventricular Administration in Japan — 15 min.
Tetsumin So (Japan)
2. Intracerebroventricular Enzyme Replacement Therapy for Hunter Syndrome – A Neurologist's Perspective on Decision-Making — 15 min.
Mikhailova Svetlana Vitalievna (Russia)
3. Intracerebroventricular Enzyme Replacement Therapy for Hunter Syndrome – A Neurosurgeon's Perspective on Decision-Making — 10 min.
Reshchikov Dmitry Alexandrovich (Russia)
4. Assessment of Mental Development in Patients with Hunter Syndrome Before Initiating Intracerebroventricular Enzyme Replacement Therapy — 15 min.
Mendelevich Olga Vladimirovna (Russia)
5. Discussion — 5 min.
Tetsumin So (Japan)
2. Intracerebroventricular Enzyme Replacement Therapy for Hunter Syndrome – A Neurologist's Perspective on Decision-Making — 15 min.
Mikhailova Svetlana Vitalievna (Russia)
3. Intracerebroventricular Enzyme Replacement Therapy for Hunter Syndrome – A Neurosurgeon's Perspective on Decision-Making — 10 min.
Reshchikov Dmitry Alexandrovich (Russia)
4. Assessment of Mental Development in Patients with Hunter Syndrome Before Initiating Intracerebroventricular Enzyme Replacement Therapy — 15 min.
Mendelevich Olga Vladimirovna (Russia)
5. Discussion — 5 min.
1. The Odyssey of a Patient with Cerebrotendinous Xanthomatosis: A Family Clinical Case — 25 min.
Mikhailova Svetlana Vitalievna (Russia)
2. Diagnosis of Cerebrotendinous Xanthomatosis: From Standards to Reality — 25 min.
Zakharova Ekaterina Yuryevna (Russia)
3. Discussion — 10 min.
Mikhailova Svetlana Vitalievna (Russia)
2. Diagnosis of Cerebrotendinous Xanthomatosis: From Standards to Reality — 25 min.
Zakharova Ekaterina Yuryevna (Russia)
3. Discussion — 10 min.
1. Whole-Exome Sequencing in the Diagnosis of Monogenic Forms of Male Infertility with Severe Pathozoospermia
Chernykh Vyacheslav Borisovich, co-author Solovova O.A. (Russia)
2. Whole-Exome Sequencing in the Diagnosis of Monogenic Forms of Premature Ovarian Insufficiency
Tsabay Polina Nikolaevna (Russia)
3. Medical Genetic Counseling for Families in Assisted Reproductive Technologies Programs
Pribushenya Oksana Vladimirovna (Belarus)
Chernykh Vyacheslav Borisovich, co-author Solovova O.A. (Russia)
2. Whole-Exome Sequencing in the Diagnosis of Monogenic Forms of Premature Ovarian Insufficiency
Tsabay Polina Nikolaevna (Russia)
3. Medical Genetic Counseling for Families in Assisted Reproductive Technologies Programs
Pribushenya Oksana Vladimirovna (Belarus)
1. Hereditary Hearing Loss: Genogeography and Heterogeneity — 20 min.
Zinchenko Rena Abulfazovna, co-author Vasilyeva T.A. (Russia)
2. High Prevalence of Mitochondrial Hearing Loss (MTRNR1) in the Republic of Buryatia — 20 min.
Borisova Tuyara Valeryevna, co-author Barashkov N.A. (Russia)
3. Hereditary Hearing Loss: Solved and Unsolved Mysteries — 20 min.
Markova Tatyana Gennadievna (Russia)
Zinchenko Rena Abulfazovna, co-author Vasilyeva T.A. (Russia)
2. High Prevalence of Mitochondrial Hearing Loss (MTRNR1) in the Republic of Buryatia — 20 min.
Borisova Tuyara Valeryevna, co-author Barashkov N.A. (Russia)
3. Hereditary Hearing Loss: Solved and Unsolved Mysteries — 20 min.
Markova Tatyana Gennadievna (Russia)
1. Progress and Limitations in the Diagnosis of Chromosomal Disorders in the Era of Cytogenomics and Artificial Intelligence — 20 min.
Lebedev Igor Nikolaevich (Russia)
2. Interpretation of Structural Chromosomal Variants in the Era of Genomic Technologies: Cytogenetics Lessons — 20 min.
Shilova Nadezhda Vladimirovna (Russia)
3. Challenges in the Clinical Interpretation of Pre- and Postnatal Cytogenetic Studies — 20 min.
Golovataya Elena Ivanovna (Belarus)
Lebedev Igor Nikolaevich (Russia)
2. Interpretation of Structural Chromosomal Variants in the Era of Genomic Technologies: Cytogenetics Lessons — 20 min.
Shilova Nadezhda Vladimirovna (Russia)
3. Challenges in the Clinical Interpretation of Pre- and Postnatal Cytogenetic Studies — 20 min.
Golovataya Elena Ivanovna (Belarus)
1. Evolution and Phenotypic Diversity of ACTA1-Associated Myopathies
Murtazina Aysylu Fanzirovna (Russia)
2. Diagnostic Challenges of Common Hereditary Distal Motor Neuropathy
Subbotin Dmitry Mikhailovich (Russia)
3. The Search for Type 2 Landouzy-Dejerine Muscular Dystrophy: Results
Kuchina Anna Sergeevna (Russia)
4. Myotonic Dystrophy Type 2 with Childhood Onset: A Case Series
Gusina Asya Aleksandrovna (Belarus)
Murtazina Aysylu Fanzirovna (Russia)
2. Diagnostic Challenges of Common Hereditary Distal Motor Neuropathy
Subbotin Dmitry Mikhailovich (Russia)
3. The Search for Type 2 Landouzy-Dejerine Muscular Dystrophy: Results
Kuchina Anna Sergeevna (Russia)
4. Myotonic Dystrophy Type 2 with Childhood Onset: A Case Series
Gusina Asya Aleksandrovna (Belarus)
1. Genetic Aspects of Drug-Resistant Epilepsy Development: Experience of Collaboration Between Geneticists and Clinicians
Sinyavskaya Marina Georgievna, co-authors Kulikova S.L., Ivanova A.S., Sivitskaya L.N., Aleksandrovich V.V., Danilenko N.G. (Belarus)
2. Neuromuscular Disorders in Children in the Republic of Belarus
Zhevneronok Irina Vladimirovna (Belarus)
3. The Role of Molecular Genetic Testing in the Diagnosis of ATTRv-PN: Experience of the Research Centre for Medical Genetics – 20 min.
Presentation supported by AstraZeneca Pharmaceuticals LLC
Adyan Taguhi Avetikovna (Russia)
Sinyavskaya Marina Georgievna, co-authors Kulikova S.L., Ivanova A.S., Sivitskaya L.N., Aleksandrovich V.V., Danilenko N.G. (Belarus)
2. Neuromuscular Disorders in Children in the Republic of Belarus
Zhevneronok Irina Vladimirovna (Belarus)
3. The Role of Molecular Genetic Testing in the Diagnosis of ATTRv-PN: Experience of the Research Centre for Medical Genetics – 20 min.
Presentation supported by AstraZeneca Pharmaceuticals LLC
Adyan Taguhi Avetikovna (Russia)
Chief of the International Forum
Kutsev Sergey Ivanovich
Academician of the Russian Academy of Sciences, Director of the Federal State Budgetary Scientific Institution "Medical Genetics Research Center",
Chief Specialist in Medical Genetics of the Ministry of Health of Russia, President of the Association of Medical Geneticists of Russia
Chief Specialist in Medical Genetics of the Ministry of Health of Russia, President of the Association of Medical Geneticists of Russia
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