ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
Orphan diseases in the republic of North Ossetia–Alania: structure, population genetic features, issues and prospects
About authors
1 Bochkov Research Center for Medical Genetics, Moscow, Russia
2 North-Ossetian State Medical Academy, Vladikavkaz, Russia
3 Republican Children’s Clinical Hospital, Vladikavkaz, Russia
4 Semashko National Research Institute of Public Health, Moscow, Russia
Correspondence should be addressed: Rena A. Zinchenko
Moskvorechye, 1, 115522, Moscow, Russia; ur.liam@oknehcnizaner
About paper
Funding: the study was supported as part of the State Assignment of the Research Centre for Medical Genetics and the Ministry of Health of the Republic of North Ossetia–Alania.
Author contribution: Zinchenko RA, Tebieva IS, Gabisova YuV, Khokhova AV — patient examination, making the diagnosis, obtaining the informed consent, and biomaterial collection; Shukan EYu — acquisition of data on the number of patients; Zinchenko RA, Tebieva IS, Kutsev SI — study planning, statistical analysis, manuscript writing; Marakhonov AV — analysis of molecular genetic tests; Tebieva IS, Marakhonov AV, Zinchenko RA — editing; Zinchenko RA, Kutsev SI — general management, editing.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol No. 5 dated 20 December 2010), it was compliant with the Good Clinical Practice and evidence-based medicine standards. All patients submitted the informed consent to participation in the study.
Received: 2024-05-08
Accepted: 2024-06-02
Published online: 2024-06-26
|
Table 1. Number of patients, data on the prevalence (per 100,000) of orphan diseases from the list of RLTDs in the world, RF, and Republic of North Ossetia–Alania
Note: * — children under the age of 18 years.
Table 2. Number of patients, data on the prevalence (per 100,000) of orphan diseases from the list of high-cost nosologies (HCNs) in the world, RF, and Republic
of North Ossetia–Alania
Note: * — children under the age of 18 years.
