From October 19th to 20th, Almazov Centre hosted the interdisciplinary conference with international participation on Unknown and Rare Diseases and the 7th Conference themed “Orphan Diseases: Diagnosis, Treatment, Rehabilitation”.
The conference began with welcome remarks from Dr Elena Sheshko, Director of the Department of Children's Medical Care, Maternity Services and Public Health of the Russian Ministry of Health, Evgeny Shlyakhto, Director General of Almazov Centre, and Alexandra Konradi, Deputy Director General for Research.
Dedicated to topical issues in the diagnosis and treatment of children with orphan and understudied diseases, the conference featured numerous organisational, scientific and educational events, including plenary and breakout sessions, interdisciplinary sessions, roundtable discussions, master classes and satellite symposia. The conference focused on the aspects of the management of patients with rare cardiac diseases. A clinical case of severe restrictive cardiomyopathy complicated by pulmonary hypertension was presented.
The experts paid particular attention to orphan alertness in paediatrics. In this context, they stressed the importance of neonatal screening and genetic testing for hereditary diseases. The conference also addressed issues related to the diagnosis, treatment, rehabilitation and management of patients with spinal muscular atrophy; treatment tactics for patients with mucopolysaccharidosis; peculiarities of laboratory testing for autoimmune and autoinflammatory diseases; rare reproductive disorders; and sleep disturbance as a possible symptom of orphan diseases.
Professor Sergey Kutsev, Director of the Research Centre for Medical Genetics, Chief Visiting Specialist of Medical Genetics of the Russian Ministry of Health, gave a presentation on «Newborn genetic screening: achievements, problems, prospects».
The round table « TK2-Deficient Myopathy: Treatment Options», moderated by Dr. Ekaterina Zakharova, Head of the Laboratory of Inherited Metabolic Disorders, and Dr. Tatiana Pervunina, Director of the Institute of Perinatology and Paediatrics, focused on guidelines for the treatment of myopathy caused by mutations in the TK2 gene.
The symposium «Functional and Therapeutic Nutrition. Ketogenic Diet» focused on discussing nutrition in inherited metabolic disorders using the example of specific orphan diagnoses. The symposium was co-chaired by Professor Anna Degtyareva, Head of Paediatrics Department at the Institute of Neonatology and Paediatrics, Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology.
Anna Kulpanovich, paediatric geneticist at the «Mother and Child» Republican Research and Practical Centre (Belarus), gave a presentation on «Organisation and efficiency of pathogenetic therapy in orphan patients in the Republic of Belarus».
During the conference, a MoU on scientific, technical and educational cooperation was signed between Almazov Centre of the Ministry and the «Mother and Child» Republican Research and Practical Centre of the Republic of Belarus. The parties plan to organise and conduct joint research and educational activities in the field of medical genetics, obstetrics, gynaecology, reproductive technologies, perinatology, neonatology and paediatrics.
The symposium «Rare Diseases in Endocrinology» featured a presentation by Professor Elena Petryaikina, Chief Visiting Specialist of Paediatric Endocrinology of the Moscow City Health Department, entitled «Federal Centre for Paediatric Rehabilitation: new rehabilitation possibilities for children and adolescents». Dr. Anatoly Tyulpakov, paediatric endocrinologist at the Bochkov Medical and Genetic Research Centre, spoke about inherited proopiomelanocortin deficiency.
The two-day conference brought together over 500 doctors from various fields., allowing for a dynamic exchange of ideas and experiences.