The Tashkent Medical Genetics Research Center, in collaboration with the Institute of Immunology and Human Genomics of the Academy of Sciences of Uzbekistan and the Immunogen Test Research Center, is organizing the first international school on clinical medical genetics. As part of the event, a delegation of leading specialists from the Academician N.P. Bochkov Medical Genetics Center is expected to arrive to deliver a series of lectures on hereditary skeletal and neurological diseases.

Lecture schedule and key topics:
1. Congenital muscular dystrophies/congenital structural myopathies. I.V. Sharkova, 3 hours
Congenital muscular dystrophies/congenital structural myopathies (CMD/CSM) are a group of genetically heterogeneous and clinically polymorphic diseases characterized by diffuse muscular hypotonia and a reduction in the range of active movement from birth or during infancy. The lecture covers the clinical presentation of CMD/CSM, current classification, methods of laboratory and potential paraclinical diagnosis, and presents algorithms for clinical-molecular-genetic diagnosis. In addition, a differential diagnosis scheme will be presented for other diseases accompanied by muscle hypotonia in infancy.
2. Spinal Muscular Atrophy 5q. I.V. Sharkova, 3 hours
Spinal Muscular Atrophy 5q (SMA 5q) is the most common of the “rare diseases.” The onset of the disease can occur at any age, and SMA symptoms are similar to those of other neurological diseases. This complicates the diagnosis of SMA and leads to delayed and/or incorrect diagnoses. This presentation raises awareness and vigilance regarding SMA and motivates further diagnostic investigation in cases of suspected disease.
3. Hereditary myasthenia: classification, clinical features, and diagnostic methods. Melnik E.A., 3 hours
Hereditary myasthenia (HM) is a group of genetically heterogeneous and clinically polymorphic diseases resulting from variants in genes whose protein products affect the structure and function of the neuromuscular junction (synapse). The lecture covers the characteristics of the clinical manifestations of HM at different levels of synaptic involvement, the necessary and sufficient scope of diagnostic testing to confirm neuromuscular transmission pathology, methods of molecular genetic diagnosis, as well as approaches to symptomatic therapy.
4. Congenital Hereditary Arthrogryposis: Classification, Clinical Features, and Diagnostic Methods. Melnik E.A., 3 hours
Hereditary arthrogryposes (HA) are a group of genetically heterogeneous disorders characterized by congenital contractures of two or more joints, which develop in utero as a result of fetal hypokinesia. The lecture will cover the pathogenesis and classification of AH, features of clinical and molecular-genetic diagnosis, and the spectrum of clinical manifestations across different nosological groups.
5. Imperfect osteogenesis: classification, features of clinical and radiological manifestations, and diagnostic methods. Merkurieva E.S., 3 hours
Imperfect osteogenesis (IO) is a broad group of genetically heterogeneous disorders resulting from reduced bone density, which leads to increased fragility, pathological fractures, and bone deformities. The disease is caused by variants in the nucleotide sequence of genes whose protein products are involved in the formation of the structure and regulation of the function of the extracellular matrix of bone tissue and the synthesis of osteoblasts. The lecture will discuss the approach to examining patients with bone fragility and osteoporosis, present an algorithm for the clinical, molecular, and genetic diagnosis of various types of imperfect osteogenesis, and outline the diagnostic features of rare syndromic forms of imperfect osteogenesis.
6. Fundamentals of Diagnosing Hereditary Skeletal Dysplasias. Markova T.V., 3 hours
Hereditary skeletal dysplasias constitute a broad, genetically heterogeneous group of disorders characterized by abnormal skeletal development. The current classification of genetic skeletal disorders will be presented, and the criteria for clinical and radiological diagnosis of the main groups of skeletal dysplasias, as well as the algorithm for their molecular-genetic diagnosis, will be discussed. The examination protocol for patients with achondroplasia will be discussed in detail, along with the diagnostic features of rare forms of skeletal dysplasias.
7. Hereditary Skeletal Dysplasias: Clinical and Radiographic Manifestations and Diagnostic Methods. Gorodilova D.V., 3 hours
Hereditary skeletal dysplasias are often masked by other conditions (myopathies, rheumatoid arthritis, arthrogryposis, and a range of unclear orthopedic pathologies) and may be accompanied by severe concomitant involvement of other organs and systems, leading to delayed diagnosis and early disability in patients. The criteria for their differential diagnosis from other diseases in clinical practice and methods for molecular-genetic confirmation of the diagnosis will be discussed. The features of clinical and radiological manifestations and diagnostic methods in the groups of type II collagenopathies, multiple epiphyseal dysplasias, pseudoachondroplasia, and diastrophic dysplasia are described in detail.
8. How to Recognize a Patient with Duchenne Muscular Dystrophy. A presentation sponsored by PTC. I.V. Sharkova, 3 hours
This lecture focuses on the early detection of Duchenne muscular dystrophy (DMD), one of the most common and severe inherited disorders associated with impaired muscle function. Participants will learn about the clinical signs that suggest DMD in its early stages, diagnostic algorithms, and modern methods of molecular genetic testing. Special attention is given to differential diagnosis, the role of pediatricians, neurologists, and other specialists in patient referral, as well as the importance of timely therapy and a multidisciplinary approach in the management of such patients.