Since 2022, SKMA has become a hub for Parkinson's disease (PD) genetics research in Central Asia and the Caucasus

From March 31 to April 13, 2025, the South Kazakhstan medical academy in Shymkent will host a series of lectures and practical sessions on "Genetics in Neurology. Basic Course." The basic course will last 150 hours and is aimed at adult and pediatric neurologists, medical geneticists, pediatricians, neonatologists, and doctors of functional and laboratory diagnostics. Leading neuroscientists from Kazakhstan and Russia will participate. Attendees will be introduced to the fundamental concepts in genetics, classification and inheritance patterns, methods for diagnosing hereditary diseases, reading and interpreting molecular genetic conclusions, and the latest scientific data on neurodegenerative and neuromuscular diseases.
Over the course of two weeks, the nature of hereditary human diseases will be explored, clinical cases will be reviewed, and a scientific-practical seminar will be held on March 4-5 for the faculty of SKMA, doctoral and master's students, residents, and neurologists from the city and region. The following lecturers will participate:

Irina Rishatovna Gilyazova, c.m.s., senior researcher at the Institute of Biochemistry and Genetics of the Ufa Scientific Center of the Russian Academy of Sciences (RAS), associate professor at the Department of Medical Genetics and Fundamental Medicine, member of the Russian Society of Medical Geneticists and the Vavilov Society of Geneticists and Breeders, reviewer for the journals Biology, Molecular Diagnosis and Therapy, Siberian Oncology Journal, Genetics, Medical Genetics.

Sergey Aleksandrovich Kurbatov, c.m.s., senior researcher at the Research Institute of Experimental Biology and Medicine of Voronezh State Medical University named after N.N. Burdenko, Associate Professor at the Department of Neurology of Saratov State Medical University named after V.I. Razumovsky, Ministry of Health of the Russian Federation.

Aysilu Fanzirovna Murtazina, c.m.s., Head of the Neurogenetics Laboratory at the Federal State Budgetary Scientific Institution "Medical Genetics Research Center named after Acad. N.P. Bochkova," Associate Professor at the Department of Neurological Diseases Genetics at the Institute of Higher Education of Medical Genetics (IViDPO).

Rauan Bagdanovich Kairzhanov, PhD, associate professor at the Department of Neurology, Psychiatry, Rehabilitation, and Neurosurgery of the South Kazakhstan Medical Academy, Clinician-Researcher at the Institute of Neurology at University College London (UCL).

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Integration of the region into the global scientific agenda. What we know about Rauan Kairzhanov and the first DNA samples from 1,000 patients from Kazakhstan.

As early as 2017, interest in the young scientist grew after his studies at the University College London’s Institute of Neurology and his participation in the international project SYNaPS, focused on studying the genetics of rare paroxysmal neurological diseases. The main freelance neurologist of the South Kazakhstan Health Department, PhD, Professor N.A. Zharkinbekova, expressed interest in him.
In September 2018, Professor Henry Holden of the Institute of Neurology, University College London, and several leading researchers from Europe came to Shymkent to participate in an international scientific-practical conference. Both sides discussed promising areas of further collaboration between SKMA and the British university, including expanding joint scientific projects and strengthening academic ties.
In September 2018, Rauan Kayirzhanov entered the full-time PhD program at University College London, winning two prestigious scholarships from UCL, covering his tuition and living expenses in London. Rawan’s research focused on studying the genetic causes of rare neurological diseases in children and neurodegenerative diseases in adults in Central Asia and the Caucasus.
Rawan received two UK grants and aimed to study the genetic causes of rare diseases in developing countries, where access to genetic testing is limited. In the first six months, he created a scientific consortium with several research and clinical centers from Central Asia and the Caucasus.
Over five years of consortium work, more than 3,000 families with rare neurological diseases were involved, and free exome and genome sequencing was provided to children. Given that the cost of one exome sequencing in commercial labs ranges from $600 to $2,000 (with an average of around $1,000), and the testing was provided not only to sick children but also their parents, the project's total contribution amounted to $9 million. This provided significant support to patient families and local health authorities.
Among the participants, 1,000 families were from Kazakhstan, highlighting the importance and scale of the project for the region.

Project Results on Rare Diseases and Molecular Genetic Diagnostics.

In 40% of families, the exact molecular-genetic causes of diseases were identified, which improved treatment and, in some cases, completely cured the disease using available medications in Kazakhstan.
Discovery of new genes: In 10% of families, new disease-causing genes were identified, previously unknown to science. For example, several new genes, including SPATA5L1, were discovered in a family with three children suffering from severe neurological diseases.
R. Kayirzhanov did not stop there and organized additional free testing for patients who did not have a responsible gene identified after exome or genome sequencing and started more complex genetic tests to search for rare and complex mutations, such as third and fourth-generation sequencing.

Scientific Publications in International Journals like The Lancet and Nature Genetics.

Every scientist dreams of publishing research results in prestigious journals. Over 65 articles by R. Kayirzhanov have been published in leading international scientific journals such as The Lancet and Nature Genetics. This has also reflected on the publication activity of not only SKMA but also medical universities in Kazakhstan.