The 3rd Scientific and Practical Conference with International Participation, entitled \u201cNeurogenetic Disorders, Psychoneurology and Epilepsy,\u201d was held in Moscow in a hybrid format, bringing together specialists in neurology, neurogenetics, epileptology, and psychoneurology.<\/p>\n
The conference focused on the latest advances in neurogenetics, the early diagnosis of hereditary nervous system disorders, molecular genetic testing, targeted therapies for rare diseases, and personalized approaches to the treatment of patients with epilepsy and rare neurological syndromes.<\/p>\n
Gulnar Amerzaevna Mukhambetova, Professor at the Department of Nervous Diseases at S.D. Asfendiyarov Kazakh National Medical University (KazNMU) and Coordinator drew particular attention to a presentation for Rare Diseases at the Almaty City Health Department. Her presentation addressed the specific features of spinal muscular atrophy (SMA) in adult patients, its clinical manifestations, and current prospects for treatment.<\/p>\n
Today, neurogenetics is one of the most rapidly advancing fields of medicine, opening up new opportunities for accurate diagnosis, a deeper understanding of the molecular mechanisms underlying diseases, and the selection of pathogenetically targeted therapies. These advances are particularly important for patients with rare hereditary disorders, for whom timely diagnosis and early initiation of treatment can have a decisive impact on prognosis and quality of life.<\/p>\n
Professor Mukhambetova\u2019s presentation at this international scientific forum made a significant contribution to professional dialogue on the future development of neurogenetics and highlighted the important role of Kazakhstan\u2019s neurological school in addressing current challenges in the diagnosis and treatment of hereditary nervous system disorders.<\/p>\n
The conference program also included discussions of modern approaches to the treatment of Duchenne muscular dystrophy, aromatic L-amino acid decarboxylase (AADC) deficiency, plexiform neurofibromas in patients with neurofibromatosis type 1, as well as current issues related to focal and drug-resistant epilepsy and Dravet and Rett syndromes.<\/p>\n
The conference was organized and technically operated by MedVector, an educational medical portal (Medical Vector LLC). Information and publishing support was provided by the ABV-Press Publishing House.<\/p>\n
The participation of Gulnar A. Mukhambetova, Professor at the Department of Nervous Diseases at S.D. Asfendiyarov Kazakh National Medical University, in this international forum represents a notable achievement in showcasing Kazakhstan\u2019s neurological expertise on the global scientific stage. It also contributes to the development of international cooperation in neurogenetics, aimed at introducing advanced diagnostic and therapeutic technologies and improving the quality of medical care for patients with rare and hereditary nervous system disorders.<\/p>\n\n\t\t