The Izvestia News Center's press center talks about approaches to detecting orphan pathologies. Broadcast

On July 31, a press conference on the topic "Diagnose on time" is being held at the Izvestia press center.

They talk about early clinical markers that make it possible to suspect a rare disease at a preclinical or initial stage, organizational approaches for early detection of orphan pathologies with available therapy, and improvements in diagnostic algorithms for diseases not included in neonatal screening programs.:

-Anna Degtyareva, MD, Professor, Head of the Pediatrics Department at the Institute of Neonatology and Pediatrics of the Federal State Budgetary Institution "NMC of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov" Ministry of Health of Russia;

-Nato Vashakmadze, MD, Professor of the Department of Faculty Pediatrics at the Institute of Motherhood and Childhood of the Pirogov Russian National Research Medical University, Head of the Department of Orphan Diseases and Prevention of Disabling Diseases at the Institute of Pediatrics and Child Health of the NCC No. 2 of the Russian National Research Medical University. Academician of B.V. Petrovsky";

-Irina Nikishina, PhD, Head of the Laboratory of Rheumatic Diseases of Childhood, V.A.Nasonova Scientific Research Institute of Rheumatology;

-Elena Petryaikina, MD, Professor, Director of the RDCB, Head of the Department of Endocrinology at the Institute of Motherhood and Childhood of the Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Chief Freelance Specialist Pediatric Endocrinologist of the Ministry of Health of the Russian Federation for the Central Federal District, Chief freelance Specialist pediatric endocrinologist of the DM.

Moderator - Ekaterina Zakharova, MD, Associate Professor, Head of the Laboratory of Hereditary Metabolic Diseases of the Federal State Budgetary Budgetary Institution "MGNC", Director of the ANO INBO OMICS, Chairman of the Expert Council of the All-Russian Society of Rare (Orphan) Diseases.

A number of rare (orphan) diseases can be effectively treated from the very first months of a patient's life, provided they are detected in a timely manner. However, the vast majority of such pathologies are not included in neonatal screening programs, which leads to delayed diagnosis and missed therapeutic opportunities.