Commonwealth without borders
International Forum on the Diagnosis and Treatment of Hereditary Orphan Diseases
Форум завершил свою работу
THE MAIN Scientific organizers
Samarkand State Medical University
the Ministry of Health of the Republic of Uzbekistan
the Ministry of Higher Education, Science and Innovation of the Republic of Uzbekistan
Republican Specialized Scientific and Practical Medical Centre for Maternal and Child Health
Institute of Immunology and Human Genomics of the Academy of Sciences of the Republic of Uzbekistan
the Academy of Sciences of the Republic of Uzbekistan
October 29–30, 2026 | Samarkand
WORKSHOP REGISTRATION
IS NOW OPEN!
Practical workshops and clinical case discussions with leading international experts October, 29–30
Advance registration required
Limited places available
About the Forum
2026
The event will bring together
specialists
Medical geneticists, pediatricians, ophthalmologists, cardiologists, orthopedic surgeons and traumatologists, internists, rheumatologists, obstetricians and gynecologists, neurologists, oncologists, hematologists, dermatovenereologists, gastroenterologists, psychiatrists, clinical psychologists, rehabilitation specialists, allergists-immunologists, endocrinologists, nephrologists, pulmonologists, neurosurgeons,
The Forum aims to bring together medical professionals, researchers, representatives of healthcare institutions, charitable foundations, and public organizations in order to improve approaches to diagnosis and treatment, and enhance the quality of life of patients with hereditary orphan diseases.
functional diagnostics specialists, healthcare administrators, representatives of religious organizations, as well as representatives of legislative and executive authorities
from
26
countries
Medical geneticists, pediatricians, ophthalmologists, cardiologists, orthopedic surgeons and traumatologists, internists, rheumatologists, obstetricians and gynecologists, neurologists, oncologists, hematologists, dermatovenereologists, gastroenterologists, psychiatrists, clinical psychologists, rehabilitation specialists, allergists-immunologists, endocrinologists, nephrologists, pulmonologists, neurosurgeons, functional diagnostics specialists, healthcare administrators, representatives of religious organizations, as well as representatives of legislative and executive authorities
Each year, the Forum attracts between 5,000 and 7,000 specialists from countries across Europe and Asia.
Scientific program 2026
The specified time is in Samarkand (+5 GSM)
1. The European strategy for rare diseases: from prevention and diagnosis to public health — 15 min
Domenica Taruscio (Italy)
2. Gene therapy: from idea to medicine — 15 min
Vorontsova M.V. (Russia)
3. Lysosomal storage diseases: the current state of the problem — 20 min
Dominique Germain (France)
4. Genomic research in clinical practice — 15 min
Kutsev S.I. (Russia), Shchagina O.A. (Russia)
5. A research-integrated program for rare and undiagnosed diseases in Türkiye — 15 min
Uğur Özbek (Türkiye)
Domenica Taruscio (Italy)
2. Gene therapy: from idea to medicine — 15 min
Vorontsova M.V. (Russia)
3. Lysosomal storage diseases: the current state of the problem — 20 min
Dominique Germain (France)
4. Genomic research in clinical practice — 15 min
Kutsev S.I. (Russia), Shchagina O.A. (Russia)
5. A research-integrated program for rare and undiagnosed diseases in Türkiye — 15 min
Uğur Özbek (Türkiye)
1. Further improving the system of medical and social care for children with rare (orphan) hereditary genetic diseases: a priority in protecting children’s health and well-being — 10 min
Akhmedova D.I. (Uzbekistan)
2. Fabry disease: a multidisciplinary approach, patient pathways and treatment experience — 20 min
Kotenko O.N. (Russia)
3. Genetic markers of folate metabolism in mothers of children with congenital brain malformations — 10 min
Djurabekova A.T. (Uzbekistan)
4. Topic to be confirmed —10 min
Namazova-Baranova L.S. (Russia)
5. Rare oncology. Prospects for clinical success — 10 min
Rumyantsev A.G. (Russia)
Akhmedova D.I. (Uzbekistan)
2. Fabry disease: a multidisciplinary approach, patient pathways and treatment experience — 20 min
Kotenko O.N. (Russia)
3. Genetic markers of folate metabolism in mothers of children with congenital brain malformations — 10 min
Djurabekova A.T. (Uzbekistan)
4. Topic to be confirmed —10 min
Namazova-Baranova L.S. (Russia)
5. Rare oncology. Prospects for clinical success — 10 min
Rumyantsev A.G. (Russia)
1. Genetic and epidemiological approaches to the detection, diagnosis, treatment and prevention of orphan diseases — 20 min
Zinchenko R.A. (Russia)
2. From isolated hearing loss to multisystem syndromes: genetic epidemiology and the population spectrum of mutations in hereditary hearing loss in Kazakhstan — 10 min
Svyatova G.S. (Kazakhstan)
3. Neonatal and prenatal screening in Uzbekistan: current status and development prospects — 10 min
Ilyasov A.B. (Uzbekistan)
4. Prevalence and clinical and genetic features of phenylketonuria in Uzbekistan — 10 min
Kutlymuratova F.K. (Uzbekistan)
5. Experience in managing patients with epidermolysis bullosa in the Republic of Azerbaijan — 10 min
Jafarova G.A. (Azerbaijan)
Zinchenko R.A. (Russia)
2. From isolated hearing loss to multisystem syndromes: genetic epidemiology and the population spectrum of mutations in hereditary hearing loss in Kazakhstan — 10 min
Svyatova G.S. (Kazakhstan)
3. Neonatal and prenatal screening in Uzbekistan: current status and development prospects — 10 min
Ilyasov A.B. (Uzbekistan)
4. Prevalence and clinical and genetic features of phenylketonuria in Uzbekistan — 10 min
Kutlymuratova F.K. (Uzbekistan)
5. Experience in managing patients with epidermolysis bullosa in the Republic of Azerbaijan — 10 min
Jafarova G.A. (Azerbaijan)
1. Molecular genetic diagnosis of repeat expansion disorders: our own experience and testing algorithms – 20 min
Nazarov V.D. (Russia)
2. PCR problems and how to solve them – 20 min
Stepanova A.A. (Russia)
3. Discussion – 20 min
Shchagina O.A. (Russia)
Nazarov V.D. (Russia)
2. PCR problems and how to solve them – 20 min
Stepanova A.A. (Russia)
3. Discussion – 20 min
Shchagina O.A. (Russia)
1. Challenging diagnostic cases — 20 min
Shchagina Olga Anatolyevna (Russia)
2. Region-specific hereditary diseases of Uzbekistan: diagnostic approaches and our own experience — 20 min
Nazarov Vladimir Dmitrievich (Russia)
3. Methods for detecting known mutations in the NGS era — 20 min
Stepanova Anna Aleksandrovna (Russia)
Shchagina Olga Anatolyevna (Russia)
2. Region-specific hereditary diseases of Uzbekistan: diagnostic approaches and our own experience — 20 min
Nazarov Vladimir Dmitrievich (Russia)
3. Methods for detecting known mutations in the NGS era — 20 min
Stepanova Anna Aleksandrovna (Russia)
1. Surgery for hereditary disorders of sex differentiation in children. Teamwork is non-negotiable — 20 min
Morozov D.A. (Russia)
2. Surgical correction of congenital genital anomalies in girls and adolescents — 20 min
Negmadjanov B.B. (Uzbekistan), Rafikov Sanjar Shavkatovich (Uzbekistan)
3. Diagnosis and choice of surgical approach in a SOX9 enhancer duplication in an SRY-negative boy with a 46,XX karyotype — 20 min
Morozov D.A. (Russia), Dantsev I.S. (Russia), Voinova V.Y. (Russia)
Morozov D.A. (Russia)
2. Surgical correction of congenital genital anomalies in girls and adolescents — 20 min
Negmadjanov B.B. (Uzbekistan), Rafikov Sanjar Shavkatovich (Uzbekistan)
3. Diagnosis and choice of surgical approach in a SOX9 enhancer duplication in an SRY-negative boy with a 46,XX karyotype — 20 min
Morozov D.A. (Russia), Dantsev I.S. (Russia), Voinova V.Y. (Russia)
1. PROS syndrome: clinical manifestations and current approaches to diagnosis and treatment – 20 min
Semenova N.A. (Russia), co-author Sagoyan G.B. (Russia)
2. McCune–Albright syndrome and fibrous dysplasia: what has changed in diagnosis and treatment – 20 min
Nuzhnaya E.Y.(Russia)
3. From pigmented spots to systemic disease: cutaneous-skeletal syndrome in mosaicism – 20 min
Presentation supported by Swixx Healthcare LLC
Semenova N.A. (Russia)
Semenova N.A. (Russia), co-author Sagoyan G.B. (Russia)
2. McCune–Albright syndrome and fibrous dysplasia: what has changed in diagnosis and treatment – 20 min
Nuzhnaya E.Y.(Russia)
3. From pigmented spots to systemic disease: cutaneous-skeletal syndrome in mosaicism – 20 min
Presentation supported by Swixx Healthcare LLC
Semenova N.A. (Russia)
1. Phenotypic features of FGFR3-related skeletal dysplasias – 20 min
Presentation supported by Swixx Healthcare LLC
Markova T.V. (Russia)
2. Clinical and genetic features of osteogenesis imperfecta in Belarusian patients – 10 min
Morozik P.M. (Belarus)
3. Rare hereditary skeletal diseases: from osteoporosis to osteosclerosis – clinical observations – 10 min
Merkuryeva E.S. (Russia)
4. Osteogenesis imperfecta: the experience of Galilee Medical Center – 10 min
Haim Efim Shtarker (Israel)
5. T2 mapping as a quantitative phenotype of the cartilage matrix: potential in hereditary defects – 10 min
Muratkhodjaeva D.D. (Uzbekistan), co-author Muratkhodjaeva S.A. (Uzbekistan)
Presentation supported by Swixx Healthcare LLC
Markova T.V. (Russia)
2. Clinical and genetic features of osteogenesis imperfecta in Belarusian patients – 10 min
Morozik P.M. (Belarus)
3. Rare hereditary skeletal diseases: from osteoporosis to osteosclerosis – clinical observations – 10 min
Merkuryeva E.S. (Russia)
4. Osteogenesis imperfecta: the experience of Galilee Medical Center – 10 min
Haim Efim Shtarker (Israel)
5. T2 mapping as a quantitative phenotype of the cartilage matrix: potential in hereditary defects – 10 min
Muratkhodjaeva D.D. (Uzbekistan), co-author Muratkhodjaeva S.A. (Uzbekistan)
1. Hereditary arthrogryposis: approaches to classification and diagnosis – 20 min
Melnik E.A. (Russia)
2. Prospects for restoring self-care ability in children with arthrogryposis multiplex congenita – 20 min
Agranovich O.E. (Russia)
3. Arthrogrypotic clubfoot: when Ponseti is only the beginning – 20 min
Rustamov K.K. (Uzbekistan)
Melnik E.A. (Russia)
2. Prospects for restoring self-care ability in children with arthrogryposis multiplex congenita – 20 min
Agranovich O.E. (Russia)
3. Arthrogrypotic clubfoot: when Ponseti is only the beginning – 20 min
Rustamov K.K. (Uzbekistan)
1. Skeletal dysplasias: the orthopedist and the geneticist – an inevitable alliance – 20 min
Presentation supported by Swixx Healthcare LLC
Kenis V.M. (Russia)
2. The skeleton as a puzzle: clinical duets of a geneticist and an orthopedist – 40 min
Haim Efim Shtarker (Israel), Markova T.V. (Russia), Merkuryeva E.S. (Russia)
Presentation supported by Swixx Healthcare LLC
Kenis V.M. (Russia)
2. The skeleton as a puzzle: clinical duets of a geneticist and an orthopedist – 40 min
Haim Efim Shtarker (Israel), Markova T.V. (Russia), Merkuryeva E.S. (Russia)
1. PROS syndrome: clinical manifestations and current approaches to diagnosis and treatment – 20 min
Semenova N.A. (Russia), co-author Sagoyan G.B. (Russia)
2. McCune–Albright syndrome and fibrous dysplasia: what has changed in diagnosis and treatment – 20 min
Nuzhnaya E.Y.(Russia)
3. From pigmented spots to systemic disease: cutaneous-skeletal syndrome in mosaicism – 20 min
Presentation supported by Swixx Healthcare LLC
Semenova N.A. (Russia)
Semenova N.A. (Russia), co-author Sagoyan G.B. (Russia)
2. McCune–Albright syndrome and fibrous dysplasia: what has changed in diagnosis and treatment – 20 min
Nuzhnaya E.Y.(Russia)
3. From pigmented spots to systemic disease: cutaneous-skeletal syndrome in mosaicism – 20 min
Presentation supported by Swixx Healthcare LLC
Semenova N.A. (Russia)
1. Phenotypic features of FGFR3-related skeletal dysplasias – 20 min
Presentation supported by Swixx Healthcare LLC
Markova T.V. (Russia)
2. Clinical and genetic features of osteogenesis imperfecta in Belarusian patients – 10 min
Morozik P.M. (Belarus)
3. Rare hereditary skeletal diseases: from osteoporosis to osteosclerosis – clinical observations – 10 min
Merkuryeva E.S. (Russia)
4. Osteogenesis imperfecta: the experience of Galilee Medical Center – 10 min
Haim Efim Shtarker (Israel)
5. T2 mapping as a quantitative phenotype of the cartilage matrix: potential in hereditary defects – 10 min
Muratkhodjaeva D.D. (Uzbekistan), co-author Muratkhodjaeva S.A. (Uzbekistan)
Presentation supported by Swixx Healthcare LLC
Markova T.V. (Russia)
2. Clinical and genetic features of osteogenesis imperfecta in Belarusian patients – 10 min
Morozik P.M. (Belarus)
3. Rare hereditary skeletal diseases: from osteoporosis to osteosclerosis – clinical observations – 10 min
Merkuryeva E.S. (Russia)
4. Osteogenesis imperfecta: the experience of Galilee Medical Center – 10 min
Haim Efim Shtarker (Israel)
5. T2 mapping as a quantitative phenotype of the cartilage matrix: potential in hereditary defects – 10 min
Muratkhodjaeva D.D. (Uzbekistan), co-author Muratkhodjaeva S.A. (Uzbekistan)
1. Hereditary arthrogryposis: approaches to classification and diagnosis – 20 min
Melnik E.A. (Russia)
2. Prospects for restoring self-care ability in children with arthrogryposis multiplex congenita – 20 min
Agranovich O.E. (Russia)
3. Arthrogrypotic clubfoot: when Ponseti is only the beginning – 20 min
Rustamov K.K. (Uzbekistan)
Melnik E.A. (Russia)
2. Prospects for restoring self-care ability in children with arthrogryposis multiplex congenita – 20 min
Agranovich O.E. (Russia)
3. Arthrogrypotic clubfoot: when Ponseti is only the beginning – 20 min
Rustamov K.K. (Uzbekistan)
1. Skeletal dysplasias: the orthopedist and the geneticist – an inevitable alliance – 20 min
Presentation supported by Swixx Healthcare LLC
Kenis V.M. (Russia)
2. The skeleton as a puzzle: clinical duets of a geneticist and an orthopedist – 40 min
Haim Efim Shtarker (Israel), Markova T.V. (Russia), Merkuryeva E.S. (Russia)
Presentation supported by Swixx Healthcare LLC
Kenis V.M. (Russia)
2. The skeleton as a puzzle: clinical duets of a geneticist and an orthopedist – 40 min
Haim Efim Shtarker (Israel), Markova T.V. (Russia), Merkuryeva E.S. (Russia)
1. PROS syndrome: clinical manifestations and current approaches to diagnosis and treatment – 20 min
Semenova N.A. (Russia), co-author Sagoyan G.B. (Russia)
2. McCune–Albright syndrome and fibrous dysplasia: what has changed in diagnosis and treatment – 20 min
Nuzhnaya E.Y.(Russia)
3. From pigmented spots to systemic disease: cutaneous-skeletal syndrome in mosaicism – 20 min
Presentation supported by Swixx Healthcare LLC
Semenova N.A. (Russia)
Semenova N.A. (Russia), co-author Sagoyan G.B. (Russia)
2. McCune–Albright syndrome and fibrous dysplasia: what has changed in diagnosis and treatment – 20 min
Nuzhnaya E.Y.(Russia)
3. From pigmented spots to systemic disease: cutaneous-skeletal syndrome in mosaicism – 20 min
Presentation supported by Swixx Healthcare LLC
Semenova N.A. (Russia)
1. Phenotypic features of FGFR3-related skeletal dysplasias – 20 min
Presentation supported by Swixx Healthcare LLC
Markova T.V. (Russia)
2. Clinical and genetic features of osteogenesis imperfecta in Belarusian patients – 10 min
Morozik P.M. (Belarus)
3. Rare hereditary skeletal diseases: from osteoporosis to osteosclerosis – clinical observations – 10 min
Merkuryeva E.S. (Russia)
4. Osteogenesis imperfecta: the experience of Galilee Medical Center – 10 min
Haim Efim Shtarker (Israel)
5. T2 mapping as a quantitative phenotype of the cartilage matrix: potential in hereditary defects – 10 min
Muratkhodjaeva D.D. (Uzbekistan), co-author Muratkhodjaeva S.A. (Uzbekistan)
Presentation supported by Swixx Healthcare LLC
Markova T.V. (Russia)
2. Clinical and genetic features of osteogenesis imperfecta in Belarusian patients – 10 min
Morozik P.M. (Belarus)
3. Rare hereditary skeletal diseases: from osteoporosis to osteosclerosis – clinical observations – 10 min
Merkuryeva E.S. (Russia)
4. Osteogenesis imperfecta: the experience of Galilee Medical Center – 10 min
Haim Efim Shtarker (Israel)
5. T2 mapping as a quantitative phenotype of the cartilage matrix: potential in hereditary defects – 10 min
Muratkhodjaeva D.D. (Uzbekistan), co-author Muratkhodjaeva S.A. (Uzbekistan)
1. Hereditary arthrogryposis: approaches to classification and diagnosis – 20 min
Melnik E.A. (Russia)
2. Prospects for restoring self-care ability in children with arthrogryposis multiplex congenita – 20 min
Agranovich O.E. (Russia)
3. Arthrogrypotic clubfoot: when Ponseti is only the beginning – 20 min
Rustamov K.K. (Uzbekistan)
Melnik E.A. (Russia)
2. Prospects for restoring self-care ability in children with arthrogryposis multiplex congenita – 20 min
Agranovich O.E. (Russia)
3. Arthrogrypotic clubfoot: when Ponseti is only the beginning – 20 min
Rustamov K.K. (Uzbekistan)
1. Skeletal dysplasias: the orthopedist and the geneticist – an inevitable alliance – 20 min
Presentation supported by Swixx Healthcare LLC
Kenis V.M. (Russia)
2. The skeleton as a puzzle: clinical duets of a geneticist and an orthopedist – 40 min
Haim Efim Shtarker (Israel), Markova T.V. (Russia), Merkuryeva E.S. (Russia)
Presentation supported by Swixx Healthcare LLC
Kenis V.M. (Russia)
2. The skeleton as a puzzle: clinical duets of a geneticist and an orthopedist – 40 min
Haim Efim Shtarker (Israel), Markova T.V. (Russia), Merkuryeva E.S. (Russia)
1. When weakness is not just weakness: clinical diagnosis of Pompe disease – 20 min
Nikitin S.S. (Russia)
2. Not to be missed in childhood: clinical diagnosis of Niemann–Pick disease types A, A/B and B – 20 min
Movsisyan G.B. (Russia)
3. Not just the liver: systemic manifestations of Niemann–Pick disease type B in adults – 20 min
Bezrukikh V.A. (Russia)
Nikitin S.S. (Russia)
2. Not to be missed in childhood: clinical diagnosis of Niemann–Pick disease types A, A/B and B – 20 min
Movsisyan G.B. (Russia)
3. Not just the liver: systemic manifestations of Niemann–Pick disease type B in adults – 20 min
Bezrukikh V.A. (Russia)
1. Diagnosis of 5q SMA. The potential of screening programs – 20 min
Presentation supported by Roche-Moscow JSC
Voronin S.V. (Russia)
2. A personalized approach to choosing disease-modifying therapy in adult patients with spinal muscular atrophy: the experience of the Russian Center of Neurology and Neurosciences – 20 min
Illarioshkin S.N. (Russia)
3. Long-term efficacy and safety profile of non-invasive disease-modifying therapy for 5q SMA: from clinical trials to real-world clinical practice – 20 min
Presentation supported by Roche-Moscow JSC
Artemyeva S.B. (Russia)
Presentation supported by Roche-Moscow JSC
Voronin S.V. (Russia)
2. A personalized approach to choosing disease-modifying therapy in adult patients with spinal muscular atrophy: the experience of the Russian Center of Neurology and Neurosciences – 20 min
Illarioshkin S.N. (Russia)
3. Long-term efficacy and safety profile of non-invasive disease-modifying therapy for 5q SMA: from clinical trials to real-world clinical practice – 20 min
Presentation supported by Roche-Moscow JSC
Artemyeva S.B. (Russia)
1. The need for a comprehensive spinal muscular atrophy screening system in the Republic of Uzbekistan – 15 min
Shamsiddinova M.A. (Uzbekistan)
2. Management of children with spinal muscular atrophy in Turkmenistan – 10 min
Saryeva M.A. (Turkmenistan)
3. Pathogenesis of dystrophinopathies. A comprehensive approach to the treatment of Duchenne muscular dystrophy – 20 min
Presentation supported by PROMOMED DM LLC
Vlodavets D.V. (Russia)
4. The female line: carrier testing for DMD gene mutations in girls and women as a social investment – 15 min
Gremyakova T.A. (Russia), co-author Gremyakova O.I. (Russia)
Shamsiddinova M.A. (Uzbekistan)
2. Management of children with spinal muscular atrophy in Turkmenistan – 10 min
Saryeva M.A. (Turkmenistan)
3. Pathogenesis of dystrophinopathies. A comprehensive approach to the treatment of Duchenne muscular dystrophy – 20 min
Presentation supported by PROMOMED DM LLC
Vlodavets D.V. (Russia)
4. The female line: carrier testing for DMD gene mutations in girls and women as a social investment – 15 min
Gremyakova T.A. (Russia), co-author Gremyakova O.I. (Russia)
1. Marfan syndrome. A case from clinical practice – 15 min
Mukhammadieva L.A. (Uzbekistan)
2. A clinical puzzle: hereditary angioedema – an interdisciplinary approach – 15 min
Djambekova G.S. (Uzbekistan)
3. Hereditary diseases in ENT pathology – 15 min
Larionova V.I. (Russia)
4. Hereditary hearing disorders and newborn hearing screening – 15 min
Markova T.G. (Russia)
Mukhammadieva L.A. (Uzbekistan)
2. A clinical puzzle: hereditary angioedema – an interdisciplinary approach – 15 min
Djambekova G.S. (Uzbekistan)
3. Hereditary diseases in ENT pathology – 15 min
Larionova V.I. (Russia)
4. Hereditary hearing disorders and newborn hearing screening – 15 min
Markova T.G. (Russia)
1. Strategies for the molecular diagnosis of inherited retinal degenerations – 20 min
Stepanova A.A. (Russia)
2. Ophthalmic genetics in Russia: the treatment vector for Leber hereditary optic neuropathy – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Kadyshev V.V. (Russia)
3. Clinical and genetic aspects of MTHFR C677T and SOD2 Ala16Val polymorphisms in retinal vein thrombosis – 10 min
Odilova A.O. (Uzbekistan), Jalalova D.Z. (Uzbekistan)
4. Clinical and genetic association of the C677T polymorphism of the MTHFR gene with structural retinal changes in malignant hypertension of renal origin – 10 min
Nizomov O.A. (Uzbekistan), Jalalova D.Z. (Uzbekistan)
Stepanova A.A. (Russia)
2. Ophthalmic genetics in Russia: the treatment vector for Leber hereditary optic neuropathy – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Kadyshev V.V. (Russia)
3. Clinical and genetic aspects of MTHFR C677T and SOD2 Ala16Val polymorphisms in retinal vein thrombosis – 10 min
Odilova A.O. (Uzbekistan), Jalalova D.Z. (Uzbekistan)
4. Clinical and genetic association of the C677T polymorphism of the MTHFR gene with structural retinal changes in malignant hypertension of renal origin – 10 min
Nizomov O.A. (Uzbekistan), Jalalova D.Z. (Uzbekistan)
1. Selective screening for inherited metabolic disorders: a regional experience – 20 min
Kochegurova E.M. (Russia)
2. The potential of enzyme replacement therapy for phenylketonuria. The Russian experience – 20 min
Presentation supported by Swixx Healthcare LLC
Bushueva T.V. (Russia)
3. The phenylketonuria registry: the experience of the Russian Federation – 20 min
Shestopalova E.A. (Russia)
Kochegurova E.M. (Russia)
2. The potential of enzyme replacement therapy for phenylketonuria. The Russian experience – 20 min
Presentation supported by Swixx Healthcare LLC
Bushueva T.V. (Russia)
3. The phenylketonuria registry: the experience of the Russian Federation – 20 min
Shestopalova E.A. (Russia)
1. Experience with Russian specialized medical nutrition products in patients with inherited metabolic disorders – 20 min
Presentation supported by Infaprim JSC
Bushueva T.V. (Russia)
2. From newborn screening to genotype: experience in diagnosing phenylketonuria in the Fergana region – 20 min
Kutlymuratova F.K. (Uzbekistan)
3. Revvity, Inc. solutions for newborn screening for Duchenne muscular dystrophy – 10 min
Presentation supported by PRIBORY JSC
Tarakina M.V. (Russia)
4. Revvity, Inc. offering for screening the pediatric population for type 1 diabetes – 10 min
Presentation supported by PRIBORY JSC
Tiia Koivula (Finland)
Presentation supported by Infaprim JSC
Bushueva T.V. (Russia)
2. From newborn screening to genotype: experience in diagnosing phenylketonuria in the Fergana region – 20 min
Kutlymuratova F.K. (Uzbekistan)
3. Revvity, Inc. solutions for newborn screening for Duchenne muscular dystrophy – 10 min
Presentation supported by PRIBORY JSC
Tarakina M.V. (Russia)
4. Revvity, Inc. offering for screening the pediatric population for type 1 diabetes – 10 min
Presentation supported by PRIBORY JSC
Tiia Koivula (Finland)
1. Current capabilities of molecular genetic diagnosis of hereditary ataxias – 15 min
Vizerov T.V. (Russia)
2. Joubert syndrome: hunting for cryptic variants in the NGS era – 15 min
Kovalskaya V.A. (Russia)
3. Molecular genetic diagnosis of inborn errors of immunity in adult patients – 15 min
Sviridov F.S. (Russia)
4. A novel recurrent large deletion in the COL9A3 gene in Russian patients with multiple epiphyseal dysplasia – 15 min
Orlova M.D. (Russia)
Vizerov T.V. (Russia)
2. Joubert syndrome: hunting for cryptic variants in the NGS era – 15 min
Kovalskaya V.A. (Russia)
3. Molecular genetic diagnosis of inborn errors of immunity in adult patients – 15 min
Sviridov F.S. (Russia)
4. A novel recurrent large deletion in the COL9A3 gene in Russian patients with multiple epiphyseal dysplasia – 15 min
Orlova M.D. (Russia)
1. Alpha-mannosidosis: recognizing the rare to change the prognosis – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Vashakmadze N.D. (Russia)
2. Pediatric cholestasis: a hidden threat and ways to address it – 20 min
Odinaeva N.D. (Russia)
3. From symptom to diagnosis: the role of follow-up care and the potential of electronic health record analysis – 20 min
Presentation supported by AstraZeneca Pharmaceuticals LLC
Vashakmadze N.D. (Russia)
Presentation supported by Chiesi Pharmaceuticals LLC
Vashakmadze N.D. (Russia)
2. Pediatric cholestasis: a hidden threat and ways to address it – 20 min
Odinaeva N.D. (Russia)
3. From symptom to diagnosis: the role of follow-up care and the potential of electronic health record analysis – 20 min
Presentation supported by AstraZeneca Pharmaceuticals LLC
Vashakmadze N.D. (Russia)
1. Autoinflammatory diseases – 20 min
Yackov Berkun (Israel)
2. Phase 1 clinical trials in Uzbekistan: orphan hematology and a new molecule – 20 min
Ruzibakieva M.R. (Uzbekistan)
3. Immunoinflammatory features of β-thalassemia: clinical and laboratory characteristics – 20 min
Musakhodjaeva D.A. (Uzbekistan), co-author Rakhmanova U.U. (Uzbekistan)
Yackov Berkun (Israel)
2. Phase 1 clinical trials in Uzbekistan: orphan hematology and a new molecule – 20 min
Ruzibakieva M.R. (Uzbekistan)
3. Immunoinflammatory features of β-thalassemia: clinical and laboratory characteristics – 20 min
Musakhodjaeva D.A. (Uzbekistan), co-author Rakhmanova U.U. (Uzbekistan)
1. The organization of nephrology care in Moscow – 15 min
Kotenko O.N. (Russia)
2. Clinical and genetic characteristics of hereditary kidney disease caused by defects in sodium-phosphate cotransporters: from heterogeneity to diagnosis – 15 min
Sharova M.V. (Russia)
3. Clinical heterogeneity and genetic diversity of prenatal polycystic kidney disease – 15 min
Morgul A.R. (Russia)
4. Rickets-like diseases in children: clinical, functional and molecular genetic features – 15 min
Akhmedova D.I. (Uzbekistan)
Kotenko O.N. (Russia)
2. Clinical and genetic characteristics of hereditary kidney disease caused by defects in sodium-phosphate cotransporters: from heterogeneity to diagnosis – 15 min
Sharova M.V. (Russia)
3. Clinical heterogeneity and genetic diversity of prenatal polycystic kidney disease – 15 min
Morgul A.R. (Russia)
4. Rickets-like diseases in children: clinical, functional and molecular genetic features – 15 min
Akhmedova D.I. (Uzbekistan)
1. “Copper under control”: early diagnosis and treatment of Wilson disease – 20 min
Strokova T.V. (Russia)
2. Progressive familial intrahepatic cholestasis: how not to miss the diagnosis. Common and rare forms illustrated by clinical cases – 20 min
Nuzhnaya E.Y. (Russia)
3. Bile that doesn’t work: congenital defects of bile acid synthesis in pediatric practice – 20 min
Semenova N.A. (Russia)
Strokova T.V. (Russia)
2. Progressive familial intrahepatic cholestasis: how not to miss the diagnosis. Common and rare forms illustrated by clinical cases – 20 min
Nuzhnaya E.Y. (Russia)
3. Bile that doesn’t work: congenital defects of bile acid synthesis in pediatric practice – 20 min
Semenova N.A. (Russia)
1. Using artificial intelligence for systematic analysis of the scientific literature and discovery of new gene–disease associations – 20 min
Soloshenko M.A. (Russia)
2. Using a pangenome reference to identify the molecular causes of hereditary diseases – 20 min
Lebedev N.V. (Russia)
3. Searching for new molecular genetic causes of multiple osteochondromas – 20 min
Firova R.K. (Russia)
Soloshenko M.A. (Russia)
2. Using a pangenome reference to identify the molecular causes of hereditary diseases – 20 min
Lebedev N.V. (Russia)
3. Searching for new molecular genetic causes of multiple osteochondromas – 20 min
Firova R.K. (Russia)
1. The pediatrician’s orphan disease awareness: clinical “red flags” and timely referral of the child – 12 min
Akhmedova D.I. (Uzbekistan)
2. The orphan disease center as coordinator of diagnosis, treatment and comprehensive care for the child – 12 min
Pak A.A. (Uzbekistan)
3. Organizing care for children with rare diseases in Uzbekistan: patient pathways, registries and continuity of follow-up – 12 min
Abdukayumov A.A. (Uzbekistan)
4. Why developing orphan medicine matters in Kyrgyzstan. A focus on international cooperation – 12 min
Narbekov T.O. (Kyrgyzstan)
5. Preparing pediatricians to work with rare diseases: the role of the medical university and continuing professional education – 12 min
Rizaev J.A. (Uzbekistan)
Akhmedova D.I. (Uzbekistan)
2. The orphan disease center as coordinator of diagnosis, treatment and comprehensive care for the child – 12 min
Pak A.A. (Uzbekistan)
3. Organizing care for children with rare diseases in Uzbekistan: patient pathways, registries and continuity of follow-up – 12 min
Abdukayumov A.A. (Uzbekistan)
4. Why developing orphan medicine matters in Kyrgyzstan. A focus on international cooperation – 12 min
Narbekov T.O. (Kyrgyzstan)
5. Preparing pediatricians to work with rare diseases: the role of the medical university and continuing professional education – 12 min
Rizaev J.A. (Uzbekistan)
1. Drug supply systems: global trends, key challenges and the potential of health technology assessment – 15 min
Musina N.Z. (Russia)
2. The experience of the Russian Federation: expert assessment and drug provision for children through the “Circle of Kindness” Foundation – 15 min
Rumyantsev A.G. (Russia)
3. The experience of the Republic of Kazakhstan: procurement of orphan drugs through a single distributor (topic to be confirmed) – 15 min
Asylbekov N.A. (Kazakhstan)
4. The role of patient organizations in ensuring access to orphan drugs: the experience of the Republic of Kazakhstan – 15 min
Taukeleva S.Z. (Kazakhstan)
Musina N.Z. (Russia)
2. The experience of the Russian Federation: expert assessment and drug provision for children through the “Circle of Kindness” Foundation – 15 min
Rumyantsev A.G. (Russia)
3. The experience of the Republic of Kazakhstan: procurement of orphan drugs through a single distributor (topic to be confirmed) – 15 min
Asylbekov N.A. (Kazakhstan)
4. The role of patient organizations in ensuring access to orphan drugs: the experience of the Republic of Kazakhstan – 15 min
Taukeleva S.Z. (Kazakhstan)
1. Building a drug reimbursement system in the Republic of Uzbekistan: current status and development prospects – 15 min
Sadyrova M.A. (Uzbekistan), co-author Umurzakova D.A. (Uzbekistan)
2. Organizing drug provision for children with rare diseases in Uzbekistan – 15 min
Abdukayumov A.A. (Uzbekistan)
3. The experience of an orphan disease center: organizing drug provision and care for children with rare diseases – 15 min
Pak A.A. (Uzbekistan)
4. The role of a public foundation in providing drug therapy to children with severe and rare diseases – 15 min
Sadykov M.F. (Uzbekistan)
Sadyrova M.A. (Uzbekistan), co-author Umurzakova D.A. (Uzbekistan)
2. Organizing drug provision for children with rare diseases in Uzbekistan – 15 min
Abdukayumov A.A. (Uzbekistan)
3. The experience of an orphan disease center: organizing drug provision and care for children with rare diseases – 15 min
Pak A.A. (Uzbekistan)
4. The role of a public foundation in providing drug therapy to children with severe and rare diseases – 15 min
Sadykov M.F. (Uzbekistan)
1. Possible health technology assessment models for the Republic of Uzbekistan – 20 min
Musina N.Z. (Russia)
2. Health technology assessment in the Republic of Uzbekistan: building the system and developing a national methodology – 20 min
Kholmanova D.A. (Uzbekistan)
3. Discussion – 20 min
Musina N.Z. (Russia)
2. Health technology assessment in the Republic of Uzbekistan: building the system and developing a national methodology – 20 min
Kholmanova D.A. (Uzbekistan)
3. Discussion – 20 min
1. Specifics of health technology assessment for orphan disease treatments in the Russian Federation – 15 min
Teptsova T.S. (Russia)
2. Access to innovative therapies for patients with orphan diseases – 15 min
Bogdanova V.O. (Russia)
3. Issues in organizing care for children with neuromuscular diseases and ways to address them – 15 min
Lapochkin O.L. (Russia)
4. Real-world data collection as a way to reduce uncertainty about the clinical and cost-effectiveness of orphan medicines – 15 min
Mukhortova P.A. (Russia)
Teptsova T.S. (Russia)
2. Access to innovative therapies for patients with orphan diseases – 15 min
Bogdanova V.O. (Russia)
3. Issues in organizing care for children with neuromuscular diseases and ways to address them – 15 min
Lapochkin O.L. (Russia)
4. Real-world data collection as a way to reduce uncertainty about the clinical and cost-effectiveness of orphan medicines – 15 min
Mukhortova P.A. (Russia)
1. Specifics of palliative care for children with malignant neoplasms – 20 min
Speaker to be confirmed (Uzbekistan)
2. Prospects for developing palliative care for children with rare diseases in the Samarkand region – 20 min
Speaker to be confirmed (Uzbekistan)
3. Palliative care technologies for children with rare diseases: an interdisciplinary approach – 20 min
Polevichenko E.V. (Russia)
Speaker to be confirmed (Uzbekistan)
2. Prospects for developing palliative care for children with rare diseases in the Samarkand region – 20 min
Speaker to be confirmed (Uzbekistan)
3. Palliative care technologies for children with rare diseases: an interdisciplinary approach – 20 min
Polevichenko E.V. (Russia)
1. Genetic diagnosis of orphan diseases in Kazakhstan: organization, accessibility, challenges and prospects – 15 min
Svyatova G.S. (Kazakhstan)
2. Rare disease management in Georgia: structure, resources, trends, achievements – 15 min
Kvlividze Oleg (Georgia)
3. Current capabilities in the diagnosis of hereditary diseases – 15 min
Serdar Ceylaner (Türkiye)
4. Building the national medical genetics service of the Kyrgyz Republic: from the first steps to the medicine of the future – 15 min
Omurzakova S.E. (Kyrgyzstan)
Svyatova G.S. (Kazakhstan)
2. Rare disease management in Georgia: structure, resources, trends, achievements – 15 min
Kvlividze Oleg (Georgia)
3. Current capabilities in the diagnosis of hereditary diseases – 15 min
Serdar Ceylaner (Türkiye)
4. Building the national medical genetics service of the Kyrgyz Republic: from the first steps to the medicine of the future – 15 min
Omurzakova S.E. (Kyrgyzstan)
Participants: Izhevskaya Vera Leonidovna (Russia), Shilyuk Tatyana Olegovna (Russia), Sharova Margarita Viktorovna (Russia)
Participants: Izhevskaya Vera Leonidovna (Russia), Levchina Anna Konstantinovna (Russia), Semenova Nataliya Aleksandrovna (Russia), Pribushenya Oksana Vladimirovna (Belarus)
1. Improving the diagnosis of lysosomal acid lipase deficiency – 20 min
Presentation supported by AstraZeneca Pharmaceuticals LLC
Zakharova E.Y. (Russia)
2. The kaleidoscope of clinical manifestations of Fabry disease – 20 min
Presentation supported by NPO Petrovax Pharm LLC
Vashakmadze N.D. (Russia)
3. Changing the treatment paradigm in Hunter syndrome – 20 min
Vashakmadze N.D. (Russia)
Presentation supported by AstraZeneca Pharmaceuticals LLC
Zakharova E.Y. (Russia)
2. The kaleidoscope of clinical manifestations of Fabry disease – 20 min
Presentation supported by NPO Petrovax Pharm LLC
Vashakmadze N.D. (Russia)
3. Changing the treatment paradigm in Hunter syndrome – 20 min
Vashakmadze N.D. (Russia)
1. Welcome address – 5 min
Kutsev S.I. (Russia)
2. Intracerebroventricular therapy for MPS II: a review of clinical trial and real-world data from Japan – 30 min
Motomichi Kosuga (Japan)
3. Intracerebroventricular therapy for MPS II: analysis of real-world clinical practice in Russia – 15 min
Mikhaylova S.V. (Russia)
4. Discussion – 10 min
Kutsev S.I. (Russia)
2. Intracerebroventricular therapy for MPS II: a review of clinical trial and real-world data from Japan – 30 min
Motomichi Kosuga (Japan)
3. Intracerebroventricular therapy for MPS II: analysis of real-world clinical practice in Russia – 15 min
Mikhaylova S.V. (Russia)
4. Discussion – 10 min
1. Differential diagnosis of cholestasis syndrome – 20 min
Movsisyan G.B. (Russia)
2. Surgical approach to progressive familial intrahepatic cholestasis and Alagille syndrome: the experience of the National Children’s Medical Center of the Ministry of Health of the Republic of Uzbekistan – 20 min
Nasyrov M.M. (Uzbekistan)
3. Discussion – 5 min
Movsisyan G.B. (Russia)
2. Surgical approach to progressive familial intrahepatic cholestasis and Alagille syndrome: the experience of the National Children’s Medical Center of the Ministry of Health of the Republic of Uzbekistan – 20 min
Nasyrov M.M. (Uzbekistan)
3. Discussion – 5 min
1. Experience with the registry of patients with familial hypercholesterolemia in the Republic of Uzbekistan: focus on homozygous familial hypercholesterolemia (HoFH) – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Alieva R.B. (Uzbekistan)
2. Not only familial hypercholesterolemia. Rare dyslipidemias as a cause of atherosclerosis – 20 min
Vasilyev P.A. (Russia)
3. Atherosclerosis with a normal lipid profile. How common is it? – 20 min
Tyurina A.V. (Russia)
Presentation supported by Chiesi Pharmaceuticals LLC
Alieva R.B. (Uzbekistan)
2. Not only familial hypercholesterolemia. Rare dyslipidemias as a cause of atherosclerosis – 20 min
Vasilyev P.A. (Russia)
3. Atherosclerosis with a normal lipid profile. How common is it? – 20 min
Tyurina A.V. (Russia)
1. Lipodystrophies: lipid metabolism disorders and clinical management of patients – 20 min
Paolo Parini (Sweden)
2. Lipodystrophies in Russia – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Frolkova N.V. (Russia)
3. How an endocrinologist can learn to recognize a patient with lipodystrophy: clinical case reviews – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Durmanova A.K. (Kazakhstan)
Paolo Parini (Sweden)
2. Lipodystrophies in Russia – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Frolkova N.V. (Russia)
3. How an endocrinologist can learn to recognize a patient with lipodystrophy: clinical case reviews – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Durmanova A.K. (Kazakhstan)
1. Gene therapy for hereditary cardiovascular diseases: reaching new heights in medicine – 20 min
Sonicheva-Paterson N.A. (USA)
2. Dilated cardiomyopathy: from molecular diagnosis to reverse myocardial remodeling – 20 min
Kislitsyna O.N. (USA)
3. Diversity and genetic diagnosis of primary cardiomyopathies – 20 min
Zaklyazminskaya El.V.(Russia)
Sonicheva-Paterson N.A. (USA)
2. Dilated cardiomyopathy: from molecular diagnosis to reverse myocardial remodeling – 20 min
Kislitsyna O.N. (USA)
3. Diversity and genetic diagnosis of primary cardiomyopathies – 20 min
Zaklyazminskaya El.V.(Russia)
1. Hereditary breast cancer – 15 min
Demidova I.A. (Russia)
2. Molecular genetic markers for personalized therapy of breast cancer – 15 min
Kekeeva T.V. (Russia)
3. Scientific foundations of primary prevention of hereditary ovarian and breast cancer – 15 min
Savonevich E.L. (Belarus)
4. FCGR2A polymorphism as a predictor of trastuzumab efficacy in breast cancer – 15 min
Grigoryants K.E. (Uzbekistan), co-author Ruzibakieva M.R. (Uzbekistan)
Demidova I.A. (Russia)
2. Molecular genetic markers for personalized therapy of breast cancer – 15 min
Kekeeva T.V. (Russia)
3. Scientific foundations of primary prevention of hereditary ovarian and breast cancer – 15 min
Savonevich E.L. (Belarus)
4. FCGR2A polymorphism as a predictor of trastuzumab efficacy in breast cancer – 15 min
Grigoryants K.E. (Uzbekistan), co-author Ruzibakieva M.R. (Uzbekistan)
1. How the largest national registry of patients with neurofibromatosis can help us – 15 min
Vasilyev P.A. (Russia)
2. Clinical manifestations of plexiform neurofibromas in neurofibromatosis type 1: what must not be missed? – 15 min
Dorofeeva M.Y. (Russia)
3. Neurofibromatosis type 1 in a geneticist’s family practice: clinical observations – 15 min
Maksimova Y.V. (Russia)
4. Neurofibromatosis type 1 as an interdisciplinary challenge: a vision of an effective care pathway for patients with neurofibromatosis type 1 – 15 min
Panel discussion
Vasilyev P.A. (Russia)
2. Clinical manifestations of plexiform neurofibromas in neurofibromatosis type 1: what must not be missed? – 15 min
Dorofeeva M.Y. (Russia)
3. Neurofibromatosis type 1 in a geneticist’s family practice: clinical observations – 15 min
Maksimova Y.V. (Russia)
4. Neurofibromatosis type 1 as an interdisciplinary challenge: a vision of an effective care pathway for patients with neurofibromatosis type 1 – 15 min
Panel discussion
1. Molecular diagnostic options for hepatobiliary and gastric tumors – 20 min
Danishevich A.M. (Russia), co-authors: Bodunova N.A. (Russia), Abramov I.S. (Russia)
2. Hereditary colon cancer syndromes – 20 min
Tsukanov A.S. (Russia)
3. Molecular genetic markers for targeted therapy of colorectal cancer – 20 min
Fedyanin M.Y. (Russia)
Danishevich A.M. (Russia), co-authors: Bodunova N.A. (Russia), Abramov I.S. (Russia)
2. Hereditary colon cancer syndromes – 20 min
Tsukanov A.S. (Russia)
3. Molecular genetic markers for targeted therapy of colorectal cancer – 20 min
Fedyanin M.Y. (Russia)
1. The significance of testing for homologous recombination deficiency in prostate cancer – 20 min
Kekeeva T.V. (Russia)
2. Molecular genetic markers for non-invasive diagnosis of bladder cancer – 20 min
Jain Mark (Russia)
3. Genetic diagnosis of rare types of kidney tumors – 20 min
Mikhaylenko D.S. (Russia)
Kekeeva T.V. (Russia)
2. Molecular genetic markers for non-invasive diagnosis of bladder cancer – 20 min
Jain Mark (Russia)
3. Genetic diagnosis of rare types of kidney tumors – 20 min
Mikhaylenko D.S. (Russia)
1. Evolution in glioma treatment: from molecular genetic profile to cell technologies – 15 min
Kumeyko V.V. (Russia)
2. Molecular genetic predictors of the clinical course of schwannomatosis – 15 min
Makashova E.S. (Russia), co-author Zolotova S.V. (Russia), Strelnikov V.V. (Russia)
3. Why does a neurosurgeon need genetics? – 15 min
Prirodov A.V. (Russia), co-author Grin A.A. (Russia)
4. Clinical, social and economic effectiveness of a surveillance program for healthy carriers of high-risk oncogenic variants – 15 min
Bodunova N.A. (Russia)
Kumeyko V.V. (Russia)
2. Molecular genetic predictors of the clinical course of schwannomatosis – 15 min
Makashova E.S. (Russia), co-author Zolotova S.V. (Russia), Strelnikov V.V. (Russia)
3. Why does a neurosurgeon need genetics? – 15 min
Prirodov A.V. (Russia), co-author Grin A.A. (Russia)
4. Clinical, social and economic effectiveness of a surveillance program for healthy carriers of high-risk oncogenic variants – 15 min
Bodunova N.A. (Russia)
Participants: Fedyanin Mikhail Yuryevich (Russia), Tsukanov Aleksey Sergeevich (Russia), Kekeeva Tatyana Vladimirovna (Russia), Demidova Irina Anatolyevna (Russia), Danishevich Anastasiya Mikhaylovna (Russia), Savonevich Elena Leontyevna (Belarus)
1. Experience with molecular genetic diagnosis of hereditary neuropathies in Russia – 20 min
Chausova P.A. (Russia)
2. Distal motor neuropathies: unexpected findings from practice – 20 min
Murtazina A.F. (Russia)
3. Challenges in the molecular genetic diagnosis of a common hereditary neuropathy – 20 min
Subbotin D.M. (Russia)
Chausova P.A. (Russia)
2. Distal motor neuropathies: unexpected findings from practice – 20 min
Murtazina A.F. (Russia)
3. Challenges in the molecular genetic diagnosis of a common hereditary neuropathy – 20 min
Subbotin D.M. (Russia)
1. Limb-girdle muscular dystrophies: classification and diagnostic algorithms – 20 min
Andoni Urtizberea (France)
2. Distal myopathies in Russia – 20 min
Subbotin D.M. (Russia)
3. A long but successful search for the causes of neuromuscular diseases – 20 min
Murtazina A.F. (Russia)
Andoni Urtizberea (France)
2. Distal myopathies in Russia – 20 min
Subbotin D.M. (Russia)
3. A long but successful search for the causes of neuromuscular diseases – 20 min
Murtazina A.F. (Russia)
1. MR imaging of skeletal muscles: pitfalls, typical errors, methodological aspects and practical recommendations – 20 min
Pierre Carlier (Belgium)
2. The many faces of congenital myopathy genes: a laboratory geneticist’s view – 20 min
Chausova P.A. (Russia)
3. The evolution of diagnosis of hereditary muscular dystrophies in Uzbekistan – 20 min
Shamsiddinova M.A. (Uzbekistan)
Pierre Carlier (Belgium)
2. The many faces of congenital myopathy genes: a laboratory geneticist’s view – 20 min
Chausova P.A. (Russia)
3. The evolution of diagnosis of hereditary muscular dystrophies in Uzbekistan – 20 min
Shamsiddinova M.A. (Uzbekistan)
1. COL6-related disorders: clinical polymorphism and genetic heterogeneity – 20 min
Melnik E.A. (Russia)
2. The role of electroneuromyography in the diagnosis of collagenopathies – 20 min
Nikitin S.S. (Russia)
3. MRI patterns of muscle involvement in collagenopathies – 20 min
Tsargush V.A. (Russia)
Melnik E.A. (Russia)
2. The role of electroneuromyography in the diagnosis of collagenopathies – 20 min
Nikitin S.S. (Russia)
3. MRI patterns of muscle involvement in collagenopathies – 20 min
Tsargush V.A. (Russia)
1. The genetic architecture of epilepsy in the Kazakh population: the population spectrum of pathogenic variants and personalized treatment approaches – 15 min
Svyatova G.S. (Kazakhstan)
2. Autism and autism-like syndromes: a genetic focus – 15 min
Saduakasova K.Z. (Kazakhstan)
3. Early-onset epileptic encephalopathy and a VUS in the NDUFA13 gene: issues of clinical and genetic interpretation – 15 min
Sayfitdinkhujaev Z.F. (Uzbekistan), Loshkova E.V.
4. Epileptic syndromes in patients with chromosomal rearrangements – 15 min
Tuychibaeva N.M.(Uzbekistan)
Svyatova G.S. (Kazakhstan)
2. Autism and autism-like syndromes: a genetic focus – 15 min
Saduakasova K.Z. (Kazakhstan)
3. Early-onset epileptic encephalopathy and a VUS in the NDUFA13 gene: issues of clinical and genetic interpretation – 15 min
Sayfitdinkhujaev Z.F. (Uzbekistan), Loshkova E.V.
4. Epileptic syndromes in patients with chromosomal rearrangements – 15 min
Tuychibaeva N.M.(Uzbekistan)
1. The “Circle of Kindness” Foundation as a mechanism for helping children with orphan diseases – 20 min
Bogdanova V.O. (Russia)
2. The hidden potential of expanded newborn screening in diagnosing metabolic disorders – 20 min
Muravyeva L.V. (Russia)
3. Nationwide Russian selective screening programs for lysosomal storage diseases as a driver of the newborn screening program – 20 min
Pushkov A.A. (Russia)
Bogdanova V.O. (Russia)
2. The hidden potential of expanded newborn screening in diagnosing metabolic disorders – 20 min
Muravyeva L.V. (Russia)
3. Nationwide Russian selective screening programs for lysosomal storage diseases as a driver of the newborn screening program – 20 min
Pushkov A.A. (Russia)
1. Phenylketonuria in real life. Problems that require new solutions – 20 min
Shestopalova E.A. (Russia)
2. Sepiapterin: clinical trials and results, new treatment options for phenylketonuria – 20 min
Margvelashvili Lali (Georgia)
3. Experience with neurosurgical treatment of AADC deficiency: a step into a new era of therapy – 20 min
Reshchikov D.A. (Russia)
Shestopalova E.A. (Russia)
2. Sepiapterin: clinical trials and results, new treatment options for phenylketonuria – 20 min
Margvelashvili Lali (Georgia)
3. Experience with neurosurgical treatment of AADC deficiency: a step into a new era of therapy – 20 min
Reshchikov D.A. (Russia)
1. New opportunities and approaches to managing patients with hereditary angioedema – 20 min
Presentation supported by Chiesi Pharmaceuticals LLC
Shcherbina A.Y. (Russia)
2. Phenotype, quality of life and hematopoietic stem cell transplantation in X-linked agammaglobulinemia – 20 min
Andrew Gennery (United Kingdom)
3. The realities in Uzbekistan – 20 min
Bronin G.O. (Uzbekistan)
Presentation supported by Chiesi Pharmaceuticals LLC
Shcherbina A.Y. (Russia)
2. Phenotype, quality of life and hematopoietic stem cell transplantation in X-linked agammaglobulinemia – 20 min
Andrew Gennery (United Kingdom)
3. The realities in Uzbekistan – 20 min
Bronin G.O. (Uzbekistan)
1. Ways to optimize newborn screening for primary immunodeficiencies – 15 min
Marakhonov A.V. (Russia)
2. Results of confirmatory screening for primary immunodeficiencies in preterm newborns: 3 years of experience at a reference center – 15 min
Efimova I.Y. (Russia)
3. Results of expanded newborn screening for primary immunodeficiencies in the Russian Federation – 15 min
Mukhina A.A. (Russia)
4. Inborn immunodeficiencies in Uzbekistan: the importance of detection, and the state of diagnosis, treatment and management – 15 min
Ismailova A.A. (Uzbekistan)
Marakhonov A.V. (Russia)
2. Results of confirmatory screening for primary immunodeficiencies in preterm newborns: 3 years of experience at a reference center – 15 min
Efimova I.Y. (Russia)
3. Results of expanded newborn screening for primary immunodeficiencies in the Russian Federation – 15 min
Mukhina A.A. (Russia)
4. Inborn immunodeficiencies in Uzbekistan: the importance of detection, and the state of diagnosis, treatment and management – 15 min
Ismailova A.A. (Uzbekistan)
1. Genetic diagnosis is the key to treating a patient with an inborn error of immunity – 15 min
Kuzmenko N.B. (Russia)
2. The spectrum of clinical masks of inborn errors of immunity – 15 min
Rodina Y.A. (Russia)
3. Syndromic inborn errors of immunity – 15 min
Mukhina A.A. (Russia), co-author Deripapa E.V. (Russia)
4. Autism spectrum disorders and other neuropsychiatric disorders in inborn errors of immunity – 15 min
Tuzankina I.A. (Russia)
Kuzmenko N.B. (Russia)
2. The spectrum of clinical masks of inborn errors of immunity – 15 min
Rodina Y.A. (Russia)
3. Syndromic inborn errors of immunity – 15 min
Mukhina A.A. (Russia), co-author Deripapa E.V. (Russia)
4. Autism spectrum disorders and other neuropsychiatric disorders in inborn errors of immunity – 15 min
Tuzankina I.A. (Russia)
1. Immune dysregulation masquerading as refractory B-cell lymphoma: a probable de novo SOCS1 variant – 20 min
Jangavorov A.J. (Uzbekistan)
2. Ataxia-telangiectasia in siblings: a novel ATM variant and discordant genotyping results – 20 min
Ramziddinov J.J. (Uzbekistan)
3. Clinical and molecular features of primary immunodeficiencies in children based on whole-exome sequencing data – 20 min
Klevleeva A.R. (Uzbekistan), co-author Rizaeva F.A. (Uzbekistan)
Jangavorov A.J. (Uzbekistan)
2. Ataxia-telangiectasia in siblings: a novel ATM variant and discordant genotyping results – 20 min
Ramziddinov J.J. (Uzbekistan)
3. Clinical and molecular features of primary immunodeficiencies in children based on whole-exome sequencing data – 20 min
Klevleeva A.R. (Uzbekistan), co-author Rizaeva F.A. (Uzbekistan)
1. Diagnosis of cystic fibrosis and primary ciliary dyskinesia: from simple to complex – 15 min
Kondratyeva Elena Ivanovna (Russia)
2. Basic and targeted therapy of cystic fibrosis – 15 min
Kovalev Viktor Nikolaevich (Russia)
3. Organizing care for patients with cystic fibrosis in Uzbekistan – 15 min
Shamsiev Furkat Mukhitdinovich (Uzbekistan)
4. Primary ciliary dyskinesia – 15 min
Aliyeva Gunay Fakhreddin qizi (Azerbaijan)
Kondratyeva Elena Ivanovna (Russia)
2. Basic and targeted therapy of cystic fibrosis – 15 min
Kovalev Viktor Nikolaevich (Russia)
3. Organizing care for patients with cystic fibrosis in Uzbekistan – 15 min
Shamsiev Furkat Mukhitdinovich (Uzbekistan)
4. Primary ciliary dyskinesia – 15 min
Aliyeva Gunay Fakhreddin qizi (Azerbaijan)
Master classes 2026 (face-to-face participation only)
To attend, sign up for a master class in your Personal account, online streaming is not provided
The specified time is in Samarkand (+5 GSM)
Semenova Nataliya Aleksandrovna (Russia), Voinova Viktoriya Yuryevna (Russia), Guseva Darya Mikhaylovna (Russia)
Практикум по синдромологии: как собрать синдром из отдельных фенотипических черт. На клинических случаях разберем сопоставление дисморфических, соматических и анамнестических данных для диагностической гипотезы и дифференциальной диагностики.
Практикум по синдромологии: как собрать синдром из отдельных фенотипических черт. На клинических случаях разберем сопоставление дисморфических, соматических и анамнестических данных для диагностической гипотезы и дифференциальной диагностики.
Воинова Виктория Юрьевна (Россия), Гусева Дарья Михайловна (Россия)
Voinova Viktoriya Yuryevna (Russia), Guseva Darya Mikhaylovna (Russia)
Voinova Viktoriya Yuryevna (Russia), Guseva Darya Mikhaylovna (Russia)
Vasyukova Olga Vladimirovna (Russia), Kopytina Darya Aleksandrovna (Russia)
Мастер-класс по диагностике и ведению генетических форм ожирения. На клинических случаях разберем алгоритмы персонализированной терапии и тактику лечения, когда стандартные методы бессильны. Для эндокринологов, генетиков, педиатров и терапевтов.
Мастер-класс по диагностике и ведению генетических форм ожирения. На клинических случаях разберем алгоритмы персонализированной терапии и тактику лечения, когда стандартные методы бессильны. Для эндокринологов, генетиков, педиатров и терапевтов.
1. Neurotrophic keratopathy in orphan diseases: live diagnostics – 30 min
Presentation supported by Biomedica
Kadyshev V.V. (Russia)
2. Hereditary diseases of the posterior segment of the eye: navigating the variety of instrumental examinations and setting the direction for genetic testing – 30 min
Kadyshev V.V. (Russia)
Мастер-класс по офтальмогенетике: орфанная патология роговицы и заднего сегмента глаза. В реальном времени разберем сложности диагностики и интерпретации результатов, закрепим практические навыки и расширим клинический опыт на сложных случаях.
Presentation supported by Biomedica
Kadyshev V.V. (Russia)
2. Hereditary diseases of the posterior segment of the eye: navigating the variety of instrumental examinations and setting the direction for genetic testing – 30 min
Kadyshev V.V. (Russia)
Мастер-класс по офтальмогенетике: орфанная патология роговицы и заднего сегмента глаза. В реальном времени разберем сложности диагностики и интерпретации результатов, закрепим практические навыки и расширим клинический опыт на сложных случаях.
Yackov Berkun (Israel)
Savelov Nikita Aleksandrovich (Russia)
Vasyukova Olga Vladimirovna (Russia), Kopytina Darya Aleksandrovna (Russia)
Мастер-класс по диагностике и ведению генетических форм ожирения. На клинических случаях разберем алгоритмы персонализированной терапии и тактику лечения, когда стандартные методы бессильны. Для эндокринологов, генетиков, педиатров и терапевтов.
Мастер-класс по диагностике и ведению генетических форм ожирения. На клинических случаях разберем алгоритмы персонализированной терапии и тактику лечения, когда стандартные методы бессильны. Для эндокринологов, генетиков, педиатров и терапевтов.
1. Neurotrophic keratopathy in orphan diseases: live diagnostics – 30 min
Presentation supported by Biomedica
Kadyshev V.V. (Russia)
2. Hereditary diseases of the posterior segment of the eye: navigating the variety of instrumental examinations and setting the direction for genetic testing – 30 min
Kadyshev V.V. (Russia)
Мастер-класс по офтальмогенетике: орфанная патология роговицы и заднего сегмента глаза. В реальном времени разберем сложности диагностики и интерпретации результатов, закрепим практические навыки и расширим клинический опыт на сложных случаях.
Presentation supported by Biomedica
Kadyshev V.V. (Russia)
2. Hereditary diseases of the posterior segment of the eye: navigating the variety of instrumental examinations and setting the direction for genetic testing – 30 min
Kadyshev V.V. (Russia)
Мастер-класс по офтальмогенетике: орфанная патология роговицы и заднего сегмента глаза. В реальном времени разберем сложности диагностики и интерпретации результатов, закрепим практические навыки и расширим клинический опыт на сложных случаях.
Yackov Berkun (Israel)
Savelov Nikita Aleksandrovich (Russia)
Gnetetskaya Valentina Anatolyevna (Russia), Pribushenya Oksana Vladimirovna (Belarus)
Мастер-класс по пренатальной диагностике: современные скрининговые и инвазивные методы. На клинических случаях разберем показания и сроки исследования, выбор объема тестирования, интерпретацию результатов и тактику ведения беременности.
Мастер-класс по пренатальной диагностике: современные скрининговые и инвазивные методы. На клинических случаях разберем показания и сроки исследования, выбор объема тестирования, интерпретацию результатов и тактику ведения беременности.
Gnetetskaya Valentina Anatolyevna (Russia), Baranova Elena Evgenyevna (Russia)
Мастер-класс по неинвазивному пренатальному тестированию: возможности и ограничения НИПТ. Разберем, что означают низкий и высокий риск, а также неинформативные и нестандартные результаты.
Мастер-класс по неинвазивному пренатальному тестированию: возможности и ограничения НИПТ. Разберем, что означают низкий и высокий риск, а также неинформативные и нестандартные результаты.
Gnetetskaya Valentina Anatolyevna (Russia), Svyatova Gulnara Salavatovna (Kazakhstan)
Мастер-класс по подготовке к беременности: диагностические и профилактические меры для зачатия, вынашивания и рождения здорового ребенка. Разберем, как оценить и снизить факторы риска, а также показания и методы генетического тестирования эмбриона.
Мастер-класс по подготовке к беременности: диагностические и профилактические меры для зачатия, вынашивания и рождения здорового ребенка. Разберем, как оценить и снизить факторы риска, а также показания и методы генетического тестирования эмбриона.
Vizerov Timofey Viktorovich (Russia)
Мастер-класс по интерпретации данных высокопроизводительного секвенирования. На реальных клинических кейсах разберем пошаговый алгоритм, оптимизацию рутины интерпретатора, работу с фильтрами и поиск причины заболевания в сложных случаях.
Мастер-класс по интерпретации данных высокопроизводительного секвенирования. На реальных клинических кейсах разберем пошаговый алгоритм, оптимизацию рутины интерпретатора, работу с фильтрами и поиск причины заболевания в сложных случаях.
Soloshenko Margarita Aleksandrovna (Russia), Guseva Darya Mikhaylovna (Russia)
Мастер-класс по ИИ-инструментам геномики для врача: AlphaMissense, SpliceAI и AlphaGenome Atlas. Разберем варианты неясного значения без программирования в бесплатных браузерных сервисах, которые можно применить уже в следующем заключении.
Мастер-класс по ИИ-инструментам геномики для врача: AlphaMissense, SpliceAI и AlphaGenome Atlas. Разберем варианты неясного значения без программирования в бесплатных браузерных сервисах, которые можно применить уже в следующем заключении.
Sharova Margarita Viktorovna (Russia)
Мастер-класс по интерпретации заключений NGS-диагностики: от работы с базами данных до назначения дополнительных исследований. Разберем алгоритмы анализа, критерии патогенности и пошагово выстроим маршрут пациента.
Мастер-класс по интерпретации заключений NGS-диагностики: от работы с базами данных до назначения дополнительных исследований. Разберем алгоритмы анализа, критерии патогенности и пошагово выстроим маршрут пациента.
1. The spectrum of CDKL5-related disorders – 20 min
Presentation supported by Skopinpharm LLC
2. Red flags of genetic epilepsy – 20 min
3. How does a genetic diagnosis affect treatment? – 20 min
Presentation supported by Skopinpharm LLC
2. Red flags of genetic epilepsy – 20 min
3. How does a genetic diagnosis affect treatment? – 20 min
Pierre Carlier (Belgium), Snezhko Eduard Vitalyevich (Belarus)
Andoni Urtizberea (France)
Levchina Anna Konstantinovna (Russia)
Мастер-класс по коммуникации в медицинской генетике: работа с тревогой, виной и агрессией пациентов. Разберем сложные кейсы, продемонстрируем консультацию и предложим фразы для снижения напряжения и сохранения контакта.
Мастер-класс по коммуникации в медицинской генетике: работа с тревогой, виной и агрессией пациентов. Разберем сложные кейсы, продемонстрируем консультацию и предложим фразы для снижения напряжения и сохранения контакта.
Pshenichnikova Irina Igorevna (Russia), Tyurina Aleksandra Vyacheslavovna (Russia)
Мастер-класс по гиполипидемической терапии у детей раннего возраста: холестерин 12 ммоль/л в 3 года, когда статины «еще рано». На реальных пациентах разберем схемы лечения и алгоритм действий, когда стандартной терапии недостаточно.
Мастер-класс по гиполипидемической терапии у детей раннего возраста: холестерин 12 ммоль/л в 3 года, когда статины «еще рано». На реальных пациентах разберем схемы лечения и алгоритм действий, когда стандартной терапии недостаточно.
На клинических примерах разберем, каких пациентов с заболеваниями сердца надо направлять на консультацию врача генетика и как использовать результат генетического теста в клинической практике
1. How to suspect an inherited metabolic disorder in a patient with cardiomyopathy – 15 min
Alieva Rano Burkhanovna (Uzbekistan)
2. A clinical case of a hybrid approach to interventional treatment of life-threatening tachycardia in MYH7-associated hypertrophic cardiomyopathy – 15 min
Artyukhina Elena Aleksandrovna (Russia)
3. The interplay of genetics and inflammation in the development of critical heart failure in a child on mechanical circulatory support – 15 min
Zaklyazminskaya Elena Valeryevna (Russia)
4. The importance of considering the patient’s ethnicity in DNA diagnosis of arrhythmogenic cardiomyopathy – 15 min
Shestak Anna Gennadyevna (Russia)
1. How to suspect an inherited metabolic disorder in a patient with cardiomyopathy – 15 min
Alieva Rano Burkhanovna (Uzbekistan)
2. A clinical case of a hybrid approach to interventional treatment of life-threatening tachycardia in MYH7-associated hypertrophic cardiomyopathy – 15 min
Artyukhina Elena Aleksandrovna (Russia)
3. The interplay of genetics and inflammation in the development of critical heart failure in a child on mechanical circulatory support – 15 min
Zaklyazminskaya Elena Valeryevna (Russia)
4. The importance of considering the patient’s ethnicity in DNA diagnosis of arrhythmogenic cardiomyopathy – 15 min
Shestak Anna Gennadyevna (Russia)
Khushvakova Nilyufar Jurakulovna (Uzbekistan), Oydinova Zukhra Ravshanbekovna (Uzbekistan)
1. Common errors in diagnosing cystic fibrosis and primary ciliary dyskinesia: clinical examples – 30 min
Kondratyeva Elena Ivanovna (Russia)
2. Basic and targeted therapy of cystic fibrosis: analyzing mistakes – 30 min
Kovalev Viktor Nikolaevich (Russia)
Мастер-класс по ведению трудных пациентов с муковисцидозом: современные протоколы выявления и лечения. На реальных кейсах разберем сложные диагностические задачи, схемы антибактериальной терапии, подбор CFTR-модуляторов и динамическое наблюдение.
Kondratyeva Elena Ivanovna (Russia)
2. Basic and targeted therapy of cystic fibrosis: analyzing mistakes – 30 min
Kovalev Viktor Nikolaevich (Russia)
Мастер-класс по ведению трудных пациентов с муковисцидозом: современные протоколы выявления и лечения. На реальных кейсах разберем сложные диагностические задачи, схемы антибактериальной терапии, подбор CFTR-модуляторов и динамическое наблюдение.
Shamsiev Furkat Mukhitdinovich (Uzbekistan), Kondratyeva Elena Ivanovna (Russia)
Access map
Multidisciplinary Clinic
of Samarkand State Medical University
of Samarkand State Medical University
6 Ankabay Street,
Samarkand, Republic of Uzbekistan
Samarkand, Republic of Uzbekistan
Проход на территорию только при наличии паспорта
Проезд на парковку только по специальному пропуску
Проезд на парковку только по специальному пропуску
Main checkpoint
(entrance by car)
(entrance by car)
Checkpoint №2
(entrance on foot)
(entrance on foot)
Morphology building
- halls: 1, 2, 10
Neurology department
- hall: 9
Catering
Surgical building
- registration area,
- exhibition area,
- halls: 3, 4, 5, 6, 7, 8
Аккредитационный центр
пешком
на автомобиле
