Laboratory of genomic and personalized medicine

Head of laboratory: Ainur Akilzhanova

Research areas:

  • Genomic and Multi-omic research in Biomedicine
  • Genetic research of multifactorial disorders (oncological diseases, cardiovascular diseases, etc.)
  • Genetic research of tuberculosis
  • Study of genetic architecture of Kazakhstani population
  • Applied genetics

 

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Description:

  • Genomic and transcriptomic profiles of esophageal cancer and breast cancer have been studied. Metabolome changes in the presence of oncological disease have been investigated.
  • Genetic factors of risk of cardiac arrhythmias development have been studied. New mutations in RYR2 gene were detected. New cardiogenetic panel of genes was created for targeted sequencing of 96 genes associated with different cardiovascular diseases for diagnostics and differentiation of cardiac arrhythmias.
  • Metabolomics analysis of cardiometabolic disorders have been done in Kazakh population.
  • Genetic factors of predisposition to thrombosis and risk of development of complications of antithrombotic therapy have been studied in patients with implanted devices of left ventricle with high risk of thrombosis and bleeding.
  • Epidemiological factors (demographic, social, economic and ecological factors) of tuberculosis disease have been investigated.
  • Genetic factors of tuberculosis susceptibility, risk of tuberculosis development in humans and mechanisms of tuberculosis development (host-pathogen interaction) have been studied.
  • Drug resistance and biodiversity of M. tuberculosis have been estimated.
  • Whole genome sequencing of clinical isolates of M. tuberculosis using 454 GS FLX Titanium (Roche) platform has been carried out.
  • Transgenic mouse model has been created that expresses «read-through» to examine pharmacokinetics and toxicity of aminoglycosides and tuberactinomycins.
  • Genetic architecture of Kazakhstani population has been studied. Sequencing of whole genomes and exomes of Kazakhs was done using Illumina Hiseq2000, deep bioinformatics analysis has been performed. Reference database of genetic variants has been created. Genetic profile of ethnic groups of Central Asia and polymorphisms of Y chromosome in Kazakhstani people have been studied.
  • Genetic tests have been prepared for detection of genetic predisposition to different disorders, risk assessment, diagnosis, determination of relationship. Services on genomic research and bioinformatics analysis of data.
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