Restriction of Acceptance of Biological Samples in December 2022
In connection with the upcoming New Year holidays, there are restrictions on the delivery and acceptance of biological samples for genetic research
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December 2022
July 2022
The Timing of Diagnosis of Hereditary Diseases in Newborns will be Reduced in Russia from 2023
The new procedure for providing medical assistance to patients with congenital and (or) hereditary diseases will come into force on December 31, 2022.200 patients were diagnosed with a new genetic panel designed for the clarification of the diagnosis of rare cancers
The genetic panel developed in the Laboratory of Epigenetics of the Research Centre for Medical Genetics10 newborns with spinal muscular atrophy (SMA) were identified as part of a pilot project of mass neonatal screening for spinal muscular atrophy and primary immunodeficiencies
6 patients diagnosed with spinal muscular atrophy were identified in Krasnodar, one patient was identified in Vladimir, two were identified in Orenburg and 1 newborn with SMA was diagnosed in Yekaterinburg
June 2022
The Orenburg region became a participant in a pilot project for mass neonatal screening for spinal muscular atrophy and primary immunodeficiencies
The laboratory of the Research Centre for Medical Genetics has already conducted a study of over 6,000 samples of biomaterial from newborns in the Orenburg region.Mass neonatal screening for SMA and primary immunodeficiencies started in Yekaterinburg
The pilot project will be implemented on the basis of the Clinical Diagnostic Center for Maternal and Child Health with the support of the Research Centre for Medical Genetics200 patients with a rare genetic disease tuberous sclerosis were identified at the Research Centre for Medical Genetics
A diagnostic program for tuberous sclerosis has been launched at the Research Centre for Medical Genetics at the beginning of 2022
May 2022
6 patients with spinal muscular atrophy were identified during the first month of the pilot project of neonatal screening for SMA (spinal muscular atrophy) and primary immunodeficiencies
A pilot screening project for spinal muscular atrophy and primary immunodeficiencies is being implemented in the Vladimir and Ryazan regions, the Krasnodar Territory and the Republic of North Ossetia-AlaniaScreening for spinal muscular atrophy (SMA) and primary immunodeficiencies will be carried out in the Republic of North Ossetia-Alania
The project will be implemented with the participation of specialists from the medical genetic consultation of the Republican Children's Clinical Hospital of North Ossetia-Alania.A Pilot Project for Neonatal Screening on Spinal Muscular Atrophy (SMA) and Primary Immunodeficiency (PID) Was Launched in Krasnodar Krai
The pilot project will be implemented on the basis of the Kuban Inter-regional Medical Genetic Counselling