In recent decades, genetics has been one of the fastest-growing fields in medicine. The technological revolution has made it possible to study the human genome in depth. Genome sequencing methods, bioinformatics, and artificial intelligence have allowed doctors and researchers to look into the causes of diseases at the molecular level. Today, it can truly be said that we live in an era of discovery that will likely continue for many years.
Genetics is no longer just a laboratory science; it has become a part of everyday clinical practice. The diagnosis of rare diseases, personalized treatment for oncology patients, prenatal screening, and neurogenetics are all integral components of modern medicine.
To discuss the field of genetics and epigenetics, Medscriptum spoke with Dr. Tinatin Tkemaladze, a physician-geneticist, Head of the Department of Molecular and Medical Genetics at Tbilisi State Medical University, and Dean of the Faculty of Medicine.
As time passes, we see more and more women involved in scientific and academic activities. From your perspective as one of the leading specialists in the field of genetics, what place do women hold in the development of genetics and science in general?
Science and medicine have no gender, though historically, women had to overcome many social barriers to achieve success in science. It is to female scientists that we owe many breakthrough discoveries and works. Rosalind Franklin deserves special mention, as her X-ray studies played a decisive role in determining the structure of the DNA double helix.
Barbara McClintock was the first woman to win the Nobel Prize in Physiology or Medicine (1983) for her discovery of transposons, or “jumping genes.” Additionally, Jennifer Doudna, who, along with Emmanuelle Charpentier, discovered the CRISPR-Cas9 technology and received the Nobel Prize in 2020 for the “development of a method for genome editing,” which is a monumental achievement for modern genetic research and medicine.
It is gratifying that today women have more support for professional advancement. I will emphasize again: science and medicine have no sexual, racial, age, or social restrictions—the main things are curiosity, interest, love for the work, and dedication.
Genetics is still a young and rapidly growing field. Given the potential it promises, many leading countries spend enormous resources to implement innovations and take leading positions. What is Georgia’s place in this matter, both in the Caucasus region and on a global scale?
The rapid growth of the field and the discovery of many new genes in recent decades are largely due to technological advances. It is not surprising that developed and high-income countries have more resources for research and lead in scientific discoveries. However, I would say that owning high-tech equipment alone is not a guarantee of leadership. Along with technology and financial capabilities, the existence of intellectual resources is essential, because it is the vision and hypothesis of the human, the scientist, and the researcher that drives science and makes new discoveries possible.
As a clinical doctor who has daily contact with patients, I would say we have strong clinical knowledge and a solid base. We see many very rare and interesting patients, which is attractive to foreign colleagues who want to investigate these unique cases in their high-tech research centers and provide them with a diagnosis. This kind of collaboration is interesting and beneficial for both parties and provides a basis for expanding cooperation with many leading genetic centers worldwide. My vision is that scientific discoveries and progress are impossible without international collaboration; therefore, we must be as open as possible and share knowledge, experience, and data both within the country and in the international arena. I am proud that over the last few years, our team has published numerous articles in many high-impact foreign scientific journals, which is a guarantee of the credibility of both Georgia and Tbilisi State Medical University in the international arena.
Ms. Tinatin, you mentioned international collaboration as one of the ways for the country to take a worthy place. Specifically, in what directions and with which countries do you cooperate?
In the field of genetics, our team actively cooperates with the world’s leading universities and research centers.
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Epigenetics: We have a long-standing partnership with the University of Manchester (UK), Queens College New York (USA), and the University of Ontario (Canada). In 2025, we published a joint paper in the European Journal of Human Genetics, describing the diagnostic value of methylation analysis in 62 Georgian patients. The results provide a solid basis for recommending epigenetic studies as a first-line diagnostic test for patients with unexplained neurodevelopmental delays.
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Neurogenetics: We have active cooperation with University College London (UK). Within this collaboration, we study the genetic causes of cerebral palsy, neurodevelopmental delay, and epilepsy in children, which is crucial for optimizing patient management and preventing recurrence risks.
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Artificial Intelligence: We have a very interesting project with the University of Bonn (Germany) regarding the use of AI programs (Deeplasia and Bone2Gene) to determine bone age and identify rare skeletal dysplasias based on X-ray analysis. In the direction of AI and rare syndromic diseases, we also collaborate with Face2Gene (USA) and the Necker Hospital in Paris on the development of the AIDY program.
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Other Projects: Within the framework of cooperation with the University of San Diego (USA), we are involved in studies of the genetic causes and epigenetic profiles of Spina Bifida. Our current research specifically focuses on congenital immunodeficiencies in ethnic Azerbaijanis in Georgia, for which we received a grant from the Jeffery Modell Foundation. I am sure the results will have a practical impact on the prevention and treatment of this disease.
These projects confirm the active involvement and leading position of Georgia and Tbilisi State Medical University in the field of rare diseases and genetics.
Many genetic diseases significantly reduce a person’s quality of life and longevity. This affects both individuals and their families. Are there statistical data reflecting the number of these people, and what role does the state play in improving their lives?
More than 7,000 genetic diseases are known, some of which are extremely rare. Furthermore, many patients with rare diseases are not yet diagnosed, making statistical accounting difficult. Generally, the prevalence of rare diseases in our country coincides with international statistics.
In recent years, awareness in Georgia has increased regarding diseases such as achondroplasia, spinal muscular atrophy (SMA), phenylketonuria, cystic fibrosis, Duchenne muscular dystrophy, and others. Some of these are already included in state funding and/or outpatient monitoring programs, which is a significant step forward. Currently, there is no official state registry for rare diseases, except for those included in state funding programs.
It is important to remember that medication is not a panacea. Managing genetic diseases requires a multidisciplinary team, including geneticists, pediatricians, neurologists, orthopedists, endocrinologists, psychologists, and physical therapists, working in coordination to monitor various aspects of health.
What challenges does the field of medical genetics face, what future changes would you like to see, and how are these challenges being addressed?
Genetic tests and modern therapies for rare diseases are technologically complex and expensive. This is why international collaboration carries social as well as medical and scientific importance. By participating in international studies, patients and their families can receive necessary genetic tests and diagnoses free of charge.
Public awareness also remains a challenge. Despite progress, stigma and a lack of information regarding genetic diseases still exist. Patient and parent organizations play an important role in advocacy, leading to earlier diagnosis and better management. Increasing awareness reduces stigmatization and helps integrate these individuals into their social environments.
What is your vision for the future?
Genetics is the medicine of the future. New technologies, AI, and international cooperation create the opportunity for a country like Georgia to become a regional hub for rare disease research and diagnostics. However, the main driving force is still the human—their critical thinking, vision, desire for research, and professional ethics. Technology is only a tool. By merging intellect with national and international collaboration, genetic diagnostics and treatment in Georgia can develop further and become accessible to all patients.
