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 second 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.

Lecture Program and Key Topics:
Clinical and molecular-genetic characteristics of hereditary diseases accompanied by liver pathology. N.A. Semenova – 3 hours
Currently, hereditary liver diseases represent a serious challenge in pediatrics. Diagnosing hereditary diseases associated with hepatopathy is a complex task for clinicians due to the wide variety of nosological forms, which often present with very similar clinical and laboratory findings. However, timely clarification of the diagnosis is essential for determining specific therapy in cases of treatable forms. This lecture focuses on the clinical and genetic characteristics and the specifics of molecular genetic diagnosis of hereditary diseases accompanied by liver pathology.
Differential Diagnosis of Hereditary Diseases Associated with Liver Pathology. Nuzhna E.Yu. – 3 hours
Currently, the timely diagnosis of hereditary diseases has become particularly important due to the possibility of pathogenetic therapy, the effectiveness of which depends significantly on the timing of diagnosis. Among hereditary diseases accompanied by liver pathology, congenital metabolic defects constitute the majority. As a rule, these diseases do not have a specific clinical phenotype. However, various clinical and biochemical symptoms can enable differential diagnosis even before molecular genetic testing is ordered, thereby optimizing the diagnostic algorithm and reducing the time and financial costs of establishing an accurate diagnosis. This will help prevent the need for a liver transplant or determine the optimal timing for its performance. An accurate diagnosis will enable medical-genetic counseling in high-risk families, including prenatal diagnosis.
Therapeutic Options for Hereditary Liver Diseases. Semenova N.A. – 3 hours
This lecture examines modern methods and approaches to etiopathogenetic therapy for hereditary diseases accompanied by liver pathology.
Introduction to Syndromology: Terms and Definitions. Description of the Patient’s Phenotype. Semenova N.A. – 3 hours
This introductory lecture focuses on the analysis of key terms and definitions in syndromology and dysmorphology. Key questions will be discussed: “What constitutes a syndrome, and what does not? In which cases is molecular genetic diagnosis necessary?” Significant attention is given to the description of the phenotype, the correct naming of congenital malformations, and minor developmental anomalies.
“Portrait” Syndromes: Clinical and Molecular-Genetic Diagnosis. Morgul A.R. – 3 hours
According to OMIM, there are currently more than 6,000 known syndromic forms of hereditary diseases, the diagnosis of which requires the use of various molecular-genetic methods, including targeted approaches. “Portrait” syndromes are syndromes that have a characteristic facial phenotype, allowing for a presumptive diagnosis during the clinical examination and the selection of the correct diagnostic approach. An accurate nosological diagnosis of a syndromic form of pathology makes it possible to determine the therapeutic course for the patient, as well as to conduct medical-genetic counseling for the purpose of family planning. The lecture is devoted to the clinical and diagnostic features of the most well-known syndromes.
Differential diagnosis of syndromes accompanied by multiple congenital malformations. Semenova N.A. – 3 hours
This lecture provides a detailed description of the clinical presentation and differential diagnosis of hereditary syndromes with similar phenotypic features. Determining the range of differential diagnoses in each specific case is the primary task of the clinical geneticist, enabling the selection of the optimal diagnostic strategy and reducing the time and cost of diagnosis.