INTERNATIONAL STUDENT CONFERENCE

"INTERDISCIPLINARY ASPECTS OF RARE DISEASES"

On February 24-25, 2023, the International Student Conference "Interdisciplinary Aspects of Orphan Diseases" was held in a hybrid format in Almaty. The conference was organized by the Department of Clinical Disciplines and the Department of Fundamental Medicine of the Higher School of Medicine of the Faculty of Medicine and Public Health of Al-Farabi Kazakh National University with the support of the Center for Molecular Medicine, the Global international group and the International student organization ISA. Kudaibergenova Renata Yerkinovna, Head of the Department of Training and Certification of Scientific Personnel of Al-Farabi Kazakh National University, and Shugelova Sabilya Tursunovna, Director and Founder of the Omirge Sen Foundation, delivered a welcoming speech. More than 160 listeners took part in the face-to-face format, 500 people joined the broadcast. On the first day, 36 reports were presented, including 6 reports presented by foreign speakers. Among them are the Commissioner for Children's Rights in the Republic of Kazakhstan Aruzhan Sain, well-known scientists - the head of JSC "NCOaG", President of the Eurasian Association of Medical Geneticists, Doctor of Medical Sciences, Professor, Svyatova Gulnara Salavatovna, Professor of the Department of Clinical Disciplines of the Higher School of Medicine of the Faculty of Medicine and Public Health, d.m.s. Saduakasova Korlan Zarlykovna.

The plenary presented a report by the Commissioner for Children's Rights in the Republic of Kazakhstan, Aruzhan Sain, on the implementation of the roadmap to reduce the disability of children (screening for orphan diseases). The report of the Director of the Higher School of Medicine of the Faculty of Medicine and Public Health, Doctor of Medical Sciences, Professor Isaeva Raushan Binomovna presented the relevance of training pediatricians, taking into account European standards for optimizing pediatric care in the Republic of Kazakhstan. The report of the head of JSC "NCOaG", President of the Eurasian Association of Medical Geneticists, MD, professor, Svyatova Gulnara Salavatovna was devoted to the genetic diagnosis of orphan diseases, the problem of genetic diagnosis in Kazakhstan was discussed, a series of clinical cases of children with genetic diseases were presented. Professor of the Department of Clinical Disciplines of the Higher School of Medicine of the Faculty of Medicine and Public Health of Al-Farabi Kazakh National University, Doctor of Medical Sciences Saduakasova Korlan Zarlykovna presented about the clinical picture and differential diagnosis of autism in her report. The conference also covered nosologies that do not belong to orphan diseases and which were encountered in practice in the form of rare, atypical forms. The report of the Head of the Department of Clinical Disciplines of the Faculty of Medicine and Health, Doctor of Medical Sciences, Professor Kurmanova Gaukhar Medeubaevna described a clinical case of hereditary angioedema, which was treated for 8 years as chronic idiopathic urticaria with angioedema. The pediatrician of palliative care for children at the Children's Hospice "House with a Lighthouse" (Moscow, Russia) Shubina Tatiana Sergeevna made a presentation about palliative care for children with orphan diseases. The topic of genetic diagnosis of orphan diseases was continued in the report of the geneticist of the Center for Molecular Medicine Sklyarov V.V., where he spoke in detail about the experience of screening for 38 hereditary metabolic diseases using tandem mass spectrometry. The topic of autism was continued by the Deputy Head of the Department of Fundamental Medicine of the Higher School of Medicine and Health Care Gulzhan Toktaubekovna Kasenova, where she raises the relevance of an interdisciplinary approach to managing children with autism.

The further work of the conference continued with the reports of young scientists, PhD students, residents and students, which were divided into 2 sections:

1. Orphan diseases: epidemiology, diagnostic difficulties, treatment approaches

2. Casuistry in clinical practice: atypical manifestations and complications of common diseases. Difficulties of treatment: resistance to antibiotics.

The best reports were selected through online voting and a jury.

For the report won:

1st place - Saifuddin Aruzhan, Artyqbay Asylzat, Arapova Andyz, Kaldurdiyeva Gulsimay, Al-Farabi Kazakh National University, General Medicine, 3rd course.

1st place - Elnara Islamova, Diana Tursynali, Al-Farabi Kazakh National University, General Medicine, 4th course.

2nd place - Abhishek Sarawata, Kajal Shivaji Jadhav, Al-Farabi Kazakh National University, General Medicine, 4th year.

2nd place - Raykulova Akbota, Sarsengazy Ayazhan, Mikhail Aidana, Nurlybekuly Bekzat, Nurlan Aruzhan, Al-Farabi Kazakh National University, General Medicine, 4th year.

2nd place – Fariza Makhambetova, Al-Farabi Kazakh National University, General Medicine, 4th year.

3rd place - Amirzhanova Kuralai, Aidarkhan Araylym, Al-Farabi Kazakh National University, General Medicine, 3rd year.

3rd place - Kobeisin Symbat, Ozbek Marzhan, Al-Farabi Kazakh National University, General Medicine, 3rd year.

3rd place – Yusupalikhojaeva Saodat, Ishniyazova Gulrukh, Tashkent State Dental Institute, Tashkent, Uzbekistan.

For poster presentation:

1st place – Nauryzbayeva A.A., Sagidanova S.E., Bazarbayeva A.A., Manzhuova L.N., Scientific Center of Pediatrics and Pediatric Surgery, 1-year residency.

2nd place - Borchashvili M.A., Alina A.R., NJSC "Medical University of Karaganda", Residency.

3rd place - Khasanova A., Sokolova D., Samara State Medical University of the Ministry of Health of the Russian Federation, Russia.

The issues that were discussed at the conference are not only of high practical importance, but also have a scientific interest.The development of new methods for early diagnosis, treatment and prevention aimed at significant factors of orphan diseases and its comorbid pathologies is a complex and time-consuming process that requires the involvement of specialists in various fields and conducting comprehensive studies. Scientific coordination and cooperation, experience in the application of advanced technologies and management of patients with orphan diseases, taking into account recommendations for improving the organization of medical and social support, the consolidation of not only medical communities, but also their close cooperation with non-governmental organizations on orphan diseases are important in shaping a healthy generation in the future.