Tashkent, Uzbekistan (UzDaily.com) -- On 11 August, with the assistance of the Ministry of Higher Education, Science and Innovation of the Republic of Uzbekistan, the Ministry of Health and the Chinese company BGI Group, an international scientific conference was held on the topic "Modern technologies for the diagnosis of congenital and hereditary pathologies".

It was attended by international experts from Uzbekistan, Russia and China. The event was opened by Deputy Minister of Higher Education, Science and Innovation Shakhlo Turdikulova and Deputy Minister of Health Elmira Bositkhonova. They informed about the work carried out in the Republic of Uzbekistan to implement modern programs for diagnosing hereditary diseases, projects for an expanded examination of newborns, and examination of carriers of hereditary diseases.

The main topics of the conference were the use of innovative technologies, such as next-generation sequencing and mass spectrometry, in the diagnosis, screening and treatment of orphan diseases of newborns, in non-invasive prenatal screening of pregnant women for chromosomal pathologies, in the diagnosis of infertility, miscarriage and stillbirth.

Foreign experts will share their unique experience in organizing mass prenatal diagnostics and advanced neonatal screening. Genscreen will share its experience in conducting a pilot project on expanded neonatal screening for 48 orphan diseases in the Republic of Uzbekistan, taking place in 14 regions, as well as the results and problems of introducing the latest genetic tests to diagnose the most complex genetic diseases that have not been previously detected using whole exome and whole genome sequencing methods.

Specialists from BGI Group, a world leader in genomics and clinical diagnostics, presented examples of large-scale screening for hereditary diseases in China to doctors and healthcare professionals in Uzbekistan. This type of research is especially relevant for Uzbekistan due to the high frequency of closely related marriages, the growth of infertility and miscarriage, the introduction of the latest methods of assisted reproductive technologies, such as IVF.

Carrying out such large-scale events will significantly increase the level of awareness and qualifications of local doctors, introduce the latest genetic technologies that will help in diagnosing the causes of newborn mortality and reduce it, prevent the birth of children with genetic pathologies such as Down syndrome, Patau, phenylketonuria, SMA and others.