“Transparency and data access are very important for genome research”

We will be talking today to Ainur Akilzhanova, our next hero of the Galym-Galam rubric. Ainur Akilzhanova is the head of the laboratory of genomic and personalized medicine at the Center of Life Sciences of Nazarbayev University. In the interview, Ainur talks about certain research projects that are currently ongoing at the CLF, and speaks about the importance of medical experience in genetics.

Your colleagues and you work on the development of genomic personalized medicine. Please tell us, how and when have you discovered your interest in this topic?

I was a cardiologist, I graduated from the Semipalatinsk State Medical Academy. My entire family are doctors, and I have always had this calling for medicine, ever since I was a  child.

In 2006, I did an internship in Japan, and it was then when I  was studying the causes of mammary gland cancer and its genetic predisposition among women living in the Semipalatinsk region. After that, I won a research grant from the Ministry of Education and Science, and later, I developed a deep interest in genetics.

In 2010, I defended my doctoral thesis, summarizing in it all the research that was conducted in Japan and Kazakhstan. I studied how genetic research can be applied in practical medicine for the prevention of multifactorial diseases. I described how, from the medical institution’s point of view, the delivery of personalized medicine can be organized. Back then it seemed unrealistic. Everyone was saying it was too expensive. And now, after 10 years, personalized medicine is becoming a reality.

In 2011, the director of the Center for Life Sciences, Professor Zhaksybay Shaimardanovich Zhumadilov, invited me to help in the creation of a laboratory of genomic personalized medicine at Nazarbayev University. We were provided a space for the new laboratory. We did everything from drawing up blueprints for the laboratory and making a list of essential equipment. Today we have a strong platform for genomic research.

My medical education and experience help me to understand how to organize genetic medical services, how the entire process should be organized: the roadmap that applies to both the healthcare system and laboratory.

  1. What kind of projects are currently being carried out by your team of scientists?

We have basic projects on fundamental research, and we also study the pathophysiology of certain conditions and genetic trends in the population. The study of the genome of the population of Kazakhstan is the basis for the development of genomic medicine.

Now we mainly work in four directions:

  1. Genetic architecture of the Kazakh population
  2. Molecular mechanisms of the main multifactorial diseases
  3. Study of tuberculosis and infectious diseases
  4. Introduction of genomic technologies in clinical practice and development of applied genetics.

We conduct large-scale studies of the genetic structure of Kazakhstanis, using sequencing technologies and bioinformatics analysis based on artificial intelligence. As a result of this project, we will create a Kazakh reference database of genome variants based on the sequencing of full genomes of 500 individuals from the main ethnic groups of Kazakhstan.

The study of the genetic structure of Kazakhstanis will allow us to use the data obtained in the field of health and biomedicine to assess the risk of various diseases and conditions and accelerate the development of digital medicine.

Now we are preparing a project on Alzheimer’s disease and vascular dementia, in which we plan to study the effects of environmental pollution and genetic factors on the development of these diseases. We will explore the influence of external factors on the body, as well as genomic, microbiological, and metabolic components.

Also, since last year we have started studying COVID-19, just like other scientists all over the world. For example, we were interested in looking at the severity of the disease in certain populations. Why might some adolescents have more severe courses of COVID-19 compared to some elderly individuals with mild forms? It is necessary to take chronic diseases into account. Specifically, we want to study what role genetic factors play in different diseases among young patients.

  1. Can you please tell us about your international partners with whom you work in the framework of your research projects.

At the beginning, when we had just established the center,  we chose the best partners – those who have achieved the greatest progress in this area. We worked with the University of Duke, where Professor G. Ginsburg works, as his work is directly related to personalized medicine in the field of cardiology. In the US, he is considered one of the founders of personalized medicine. We also cooperate with the National University of Seoul and the Medical University of Seoul, with professors Jeong Sun Seo and Jeong-II Kim – the founders of the Macrogen and Genomic Medicine Institute.

As part of the project to create a cardiogenetic panel, we conduct joint work with the research center of the Medical University of the city of Graz (Austria), which is headed by Christian Galli. We also work with  Japanese colleagues from the University of Nagasaki on projects in nuclear medicine and research into the effects of radiation on genetic modification. Now they study the impact of an explosion at Fukushima on the population. In the framework of bioinformatics and analysis of arrays of data, we cooperate with Harvard University. On the genetics of cancer, we work with the Curie Institute in France and others.  Another partner on the genetic panel is Columbia University.

In general, we strive for the constant expansion of international cooperation in all areas of our activities. It is very important for the promotion of our research and projects. So, before publishing an article on genomes, all laboratories across the globe are obliged to upload their raw data to international databases, so that the scientific community could use them for research purposes. These are usually encrypted data (without personal data) in the form of public databases. Only after this, the results of the research can be published. This is done so that scholars from other countries can compare these data with the results of their research, which is standard world practice. It is important for scientists to have an opportunity to confirm and verify their results because in genomic research transparency and data access are paramount.