Study of hemostasis gene polymorphisms and rare mutations in children with onco-hematological diseases in Uzbekistan for therapy personalization and mortality reduction

Project Goal: Development of personalized diagnostic and treatment strategies for pediatric onco-hematological diseases based on gene polymorphisms, clinical, laboratory, and genetic data.

Key Objectives:

- Investigation of hemostasis gene polymorphisms.

- Screening of homo-/heterozygous carriers using clinical data, CBC, hemostasiogram, phenotype, and molecular-genetic methods.

- Development and implementation of a new diagnostic and treatment strategy for thrombophilia, including a screening panel and a national polymorphism database.

Expected Outcomes:

- Creation of an algorithm for early diagnosis and patient risk stratification.

- Personalized therapy to reduce toxicity and improve survival.

- Decreased mortality in pediatric onco-hematological cases.

- Preparation of an annotated scientific report, publications in peer-reviewed journals approved by Higher Attestation Commission of the Republic of Uzbekistan, RSCI and international databases (Scopus, PubMed, Web of Science) and patent application submission.

Project Leader: Doctor of Philosophy in Medical Sciences (PhD) N.N. Babakhanova.