The International Forum on the Diagnosis and Treatment of Rare Diseases, "Commonwealth Without Borders," was held on October 30th to 31st in Tashkent. The forum brought together global experts, medical professionals, charitable organizations, and government representatives from 19 countries to address rare diseases and enhance patient care.

Asilbek Anvarovich Khudayarov, the acting Minister of Health of Uzbekistan delivers a speech at the conference

From January to September 2024, Uzbekistan registered a total of 694,000 newborns. According to statistics from the World Health Organization (WHO), the neonatal mortality rate remains at 7.68 per thousand. The relatively high neonatal mortality rate continues to pose a significant public health challenge for Uzbekistan, constraining the nation's development progress.

A major highlight was the satellite session, "Modern Approaches in the Diagnosis of Rare Diseases – Experience of BGI Genomics“, a collaboration between BGI Genomics and its joint venture Genscreen Laboratory. The session featured key speakers, including Cheng Jun, General Director of the Central Asia region at BGI Genomics, Professor Valentina Larionova, Medical Director and Head of the Association of Specialists in Molecular Medicine, Medical and Laboratory Genetics, Mikhail Fedyakov, Geneticist and Head of the Genetic Department at Genscreen Laboratory, Dr. Elena Baranova, Associate Professor at the Department of Medical Genetics of the Medical Academy of Continuing Professional Education, and Viktoriya Voinova, Head of the Department of Clinical Genetics and Chief Researcher at the Research Clinical Institute of Pediatrics and Pediatric Surgery.

Viktoriya Voinova delivers her keynote speech in the satellite session

Viktoriya Voinova, Head of the Department of Clinical Genetics and Chief Researcher at the Research Clinical Institute of Pediatrics and Pediatric Surgery, delivered an insightful presentation titled “Genome-wide Studies and Deep Phenotyping in the Russian Cohort of Children with Autism Spectrum Disorders.” She underscored the crucial importance of comprehensive genetic research in unraveling the complexities of Autism Spectrum Disorders (ASD), which rank among the most common neurological conditions.“ Identifying the molecular genetic causes of ASD is essential for accurate diagnosis, effective medical and genetic counseling, and forms the foundation for delivering personalized care to each patient,” she emphasized.

Professor Valentina Larionova delivers her keynotes speech in the satellite session

Professor Larionova emphasizing the need for a multidisciplinary approach by underscored the complexities in treating orphan diseases, particularly when multiple organs are affected.  “Teamwork and data exchange are paramount,” she stressed, advocating for coordinated efforts in global collaboration for rare disease prevention and treatments.

Mikhail Fedyakov delivers his keynotes speech in the satellite session

Mikhail Fedyakov, Geneticist and Head of the Genetic Department at Genscreen Laboratory, delivered a presentation on “Genetic Testing in Uzbekistan: Features and First Results,” showcasing how Whole Exome Sequencing (WES) is being utilized to diagnose rare diseases. The study revealed a high incidence of hereditary pathologies often linked to closely related marriages, confirmed hereditary diseases in 49% of cases. Fedyakov emphasized the necessity of comprehensive family screenings and the preference for WES and Whole Genome Sequencing (WGS) over genetic panels for more accurate diagnoses.

Fedyakov goes on sharing findings from an HPLC-MS/MS study that screened 29,027 newborns across Uzbekistan, uncovering 14 cases of hereditary beta-oxidation disorders and five other rare hereditary diseases. He noted that mitochondrial beta-oxidation disorders are more frequent in Uzbekistan compared to global averages.

During the forum, BGI Genomics showcased a variety of innovative products, including NIFTY (Non-Invasive Fetal Trisomy Testing), Carrier Screening, and WES, at the exhibition booth. Specialists from BGI Genomics and Genscreen engaged attendees with detailed overviews of their diagnostic technologies, especially on the diagnosis and treatment of rare diseases. Guided laboratory tours were offered, allowing participants to see the practical applications of these advanced genetic tools. The experience itself fostering knowledge exchange and collaboration among professionals to advance healthcare outcomes in Uzbekistan and beyond.

Introducing BGI Genomics XOME cWES

cWES is intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders and especially heterogeneous phenotypes. cWES sequences over 180,000 exons across 22,000 genes for more than 4,000 monogenic diseases.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange