2024 / 03

Next Paper
DOI: 10.24075/brsmu.2024.025

ORIGINAL RESEARCH

Orphan diseases in the republic of North Ossetia–Alania: structure, population genetic features, issues and prospects

Zinchenko RA1, Tebieva IS2,3, Gabisova YuV3, Shukan EYu4, Khokhova AV2,3, Marakhonov AV1, Kutsev SI1
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
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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.