Patients with rare diseases under the supervision of specialists and state authorities

The 10th edition of the World Rare Disease Day was marked in the Republic of Moldova through an anniversary scientific conference entitled "Come with us, because together we can achieve more, you can't even imagine how much!", held from February 27 to March 1, 2025, at Mother and Child Institute (MCI). The event aimed to raise awareness regarding these diseases and identify solutions for the 300 million people worldwide living with a rare disease, their families and caregivers, through more information. 

In this context, pediatricians, neonatologists, medical geneticists, biologists, chemists, teachers, resident doctors, students, nurses, social workers and patients with rare diseases addressed issues in this field, including genetic factors, diagnosis, quality treatments and rehabilitation services for people with rare diseases. At the same time, national and international programs supporting young patients and their families were presented. 

Sergiu Gladun, the MCI director, has mentioned that currently, in the Republic of Moldova, 2500 patients with rare diseases are registered, and most of them are children, who are registered at the Institute of Mother and Child in various subdivisions, especially at the Center for Family Planning and Medical Genetics. "This event, from year to year, becomes more visible, it is known that diseases are rare, but there are many patients. We are optimistic that, lately, many achievements have been recorded in the process of diagnosing rare diseases. At the same time, it is appreciated that there are many national programs, with the help of which we could treat these children, given that the treatments are extremely expensive, and the possibilities of families are minimal," the manager of the institution emphasized.

"Rare diseases are a burden on public health and the medical system both in terms of expensive treatments and the path - from detection, diagnosis to rehabilitation. Globally, 6% of the population is affected by rare diseases, most of which are caused by genetic factors. In the Republic of Moldova, the most serious problem is that, after 18 years, patients are classified based on other diagnoses, which is not correct," said Jana Chihai, vice-rector for research and innovation.

The Vice-Rector has noted that Nicolae Testemitanu University, as a leading institution in medical education, supports programs dedicated to rare diseases, by conducting research in this field, equipping research laboratories with ultra-high-performance technology and developing postgraduate training for teachers in medical genetics and rare diseases. "The development of a rare disease registry is imminent. The University can provide expertise in developing an integrated electronic platform accessible to doctors and health authorities for better management of these conditions. In the context of implementing the provisions of the National Program on Rare Diseases for the years 2024-2028, the University reaffirms its commitment to support, especially through the training of specialists, advanced research, the development of medical infrastructure and integration into international networks," Jana Chihai pointed out.

The event was also attended by Mihail Toderas, head of the Center for Health and Biomedicine Research of Nicolae Testemitanu University, who highlighted several milestones through which the University contributes to the development of the National Program on Rare Diseases. Among these is the implementation of the scientific master's program Molecular Technologies in Health, the launch of the Molecular Medicine and Personalized Medicine centers, endowed with high-performance equipment, with 800 thousand RNA markers, which can process personalized data for each patient. The second research platform is the Digital Pathology Laboratory, equipped with modern diagnostic and macroscopic image recording equipment. The third research platform is the Biobank, which will be launched soon, and which will contribute to the integration of all medical systems in the Republic of Moldova, especially the research one. "The Biobank will allow us to exchange experience with the global medical community and in the rare diseases segment. "It is beneficial when the same platform contains biomaterial from 5-6 patients from different areas of the world," the researcher stated.

According to the Ministry of Health, every year, financial resources are allocated for the treatment of rare diseases from the mandatory health insurance funds, with 14.7 million lei being directed in 2024. The national program on rare diseases has the following objectives: a 25% increase in the coverage of specific drug treatment and rehabilitation services for various rare diseases compared to 2023, a 25% increase in detected diseases by 2028, ensuring patients' access to diagnostic, treatment and rehabilitation services, as well as expanding the range of drugs used to treat these diseases. These measures are intended to increase the quality of life and prevent disability of patients suffering from a rare disease. Because each case requires specialized treatment and complex medical care. 

Ina Palii, University Professor at the Department of Pediatrics of Nicolae Testemitanu University, MCI deputy director, thanked the partners for the support provided to the Medical Genetics Center in identifying optimal solutions for patients with rare diseases, in supporting programs in line with European standards in the areas of early detection of diseases, quality treatments and ensuring an optimal lifestyle for these patients. 

The Conference program was organized into several sections: Molecular-genetic diagnosis in rare diseases, Nursing in rare diseases, Applied clinical genetics, Medical biotechnology applied in the diagnosis of rare diseases, Scientific research on various cases of rare diseases, and included the launch of the Medical Genetics Society of Moldova, which will support the implementation activities of the National Program on Rare Diseases. 

The scientific event was organized by the Medical Genetics Society of Moldova in partnership with the Mother and Child Institute, Nicolae Testemitanu State University of Medicine and Pharmacy, the Pediatric Society of the Republic of Moldova, the Society of Child and Adolescent Neuropsychology of the Republic of Moldova, the Association for the Rehabilitation of Children with Phenylketonuria (ARC-PKU), the "SOS Autism" Public Association, the "Children of the Rain" Public Association and was held under the auspices of the Ministry of Health of the Republic of Moldova.