BGI Genomics Spotlights Congenital Pathologies in Uzbekistan


On August 11, 2023, an international scientific conference focusing on "Modern technologies for the diagnosis of congenital and hereditary pathologies" was held in the Republic of Uzbekistan, supported by the Ministry of Higher Education, Science and Innovation of the Republic of Uzbekistan, the Ministry of Health, and the leading precision medicine provider BGI Genomics.


(Left to right) Viktoria Viktorovna Tsai, Head of the Department of Prenatal and Neonatal Medicine, Genscreen Co., Ltd., Fediakov Michail Andreevich, Geneticist, Head of the Department of Genetics, Genscreen Co., Ltd., Nazokat Boburovna Ashurmetova

This conference welcomed esteemed international experts from Uzbekistan and abroad. Opening remarks were delivered by Deputy Minister of Higher Education, Science and Innovation Shakhlo Turdikulova and Deputy Minister of Health Elmira Bositkhonova, who highlighted the efforts carried out in Uzbekistan to implement advanced programs for diagnosing hereditary diseases, expanding newborn examination initiatives, and conducting screening for carriers of hereditary conditions.

Experts shared their unique experiences in organizing large-scale prenatal diagnostics and advanced neonatal screening. Genscreen, for instance, presented outcomes and challenges from its pilot project on expanded neonatal screening for 48 orphan diseases, covering 14 regions in Uzbekistan. Cutting-edge genetic tests were discussed, especially whole exome and whole genome sequencing methods, for diagnosing extremely complex genetic diseases that were previously undetectable.

Specialists from BGI Genomics shared expertise in conducting large-scale screening for hereditary diseases in China, imparting vital knowledge to doctors and healthcare professionals in Uzbekistan. This research is of particular significance for Uzbekistan due to the high occurrence of marriages between close relatives, a surge in infertility and miscarriage cases, and the advent of advanced assisted reproductive technologies like in vitro fertilization (IVF).

The successful execution of such comprehensive events helps to enhance the knowledge and expertise of local doctors, while introducing the latest genetic technologies that aid in identifying the causes of newborn mortality, reducing the occurrence of genetic pathologies such as Down syndrome, Patau syndrome, phenylketonuria, spinal muscular atrophy (SMA), and others.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. To learn more about the NIFTY® Test - the world's leading non-invasive prenatal test (NIPT), please see our website. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.