International Student Conference
"Fundamental and clinical aspects of orphan diseases"
On February 29, 2024, the International Student Conference "Fundamental and Clinical Aspects of orphan diseases" was held at Al-Farabi Kazakh National University, dedicated to the Day of Rare Diseases and the 90th anniversary of Al-Farabi Kazakh National University.
Orphan diseases are rare, little–studied conditions and diseases, the specific treatment methods of which are still little known. Medical care for such patients may not always be provided immediately, as their low prevalence makes it difficult to diagnose. The issues of diagnosis and treatment of orphan diseases are an important medical and social problem. The main focus of the conference is to find solutions to the problems of people with orphan and rare diseases, as well as issues related to raising awareness, funding and research of these pathologies.
At the opening of the conference, the head of the Department of Clinical Disciplines, Professor Kurmanova Gauhar Medeubaevna, spoke. The report of Professor of the department Saduakasova Korlan Zarlykovna "On the role of screening in the early diagnosis of orphan diseases" was received with great interest by the audience. The conference was attended by students and young scientists from various regions of Russia, Kyrgyzstan and Kazakhstan. The section "Orphan diseases: early diagnosis and prospects of therapy" mainly included student reports. Interns, residents, undergraduates, doctoral students spoke in the section "Orphan and rare diseases in the practice of doctors of various specialties". To a greater extent, the conference had a clinical focus. Clinical cases of orphan diseases such as mucopolysaccharidosis, Joubert syndrome, Takayasu arteritis, Crouzon syndrome, Diamond-Blackfen anemia, as well as rare cases of widespread diseases are presented.
The winners of the 1st section were: Asher Abdur Rehman with a report «Poncet’s Disease: A Case Report of Rare TB-Associated Polyarthropathy” (Al-Farabi Kazakh National University, Kazakhstan) – 1 place; Marat Gripp with a report "Orodental manifestations of Crouzon syndrome: a clinical observation" (I.M. Sechenov First Moscow State Medical University, Russia) and Ashish Kumar Singh with a report «Takayasu arteritis in pregnancy (a case report)» (Al-Farabi Kazakh National University, Kazakhstan) - 2 place; Bakr Alyaseen with a report «Clinical symptoms of patients with EVALI” (Al-Farabi Kazakh National University, Kazakhstan), Kudaibek Nurai, Isaac Kuralai with a report «Main characteristics of low birth weight newborns treated in the neonatology department of the Almaty perinatal center from 2021 to 2023» (KazNMU named after S.D. Asfendiyarov, Kazakhstan); Sultan Dauletbek, Nurlan Aruzhan Nurlankyzy, Nurlybekuly Bekzat, Mikhail Aidana, Kudaibergen Aliya Zamirbekkyzy "Сytomegalovirus pericarditis" (Al-Farabi Kazakh National University, Kazakhstan) – 3 place.
In the second section, 1st place was awarded Zhuldyz Sanakbay for the report "Analysis of the results of neuroblastoma therapy in children" (KazNMU named after S.D. Asfendiyarov, Kazakhstan); 2 place - Nazerke Sailaubekova, Nasiba Anarbayeva for the report "A complex case of Wegener's granulomatosis in a child. Diagnostic difficulties" (KazNMU named after S.D. Asfendiyarov, Kazakhstan) and Ardak Serikbayev for the report "Cases of aminoacidopathy in pediatrician's practice" (KazNMU named after S.D. Asfendiyarov, Kazakhstan); 3 place - Regina Chuvaeva, Aidan Mahmut for the report "A family case of progressive pseudorheumatoid dysplasia in children. Clinical observation" (KazNMU named after S.D. Asfendiyarov, Kazakhstan), To Asylzhan Nurzhanov for the report "A clinical case. Orphan disease: osteogenesis imperfecta" (NSCC named after A.N. Syzganov, Kazakhstan) and Ulyana Gubareva for the report "Hemorrhagic fever with renal syndrome: the current epidemiological situation in Kazakhstan" (KazNMU named after S.D. Asfendiyarov, Kazakhstan).
The best poster of Abubakar bin Riaz "Wegener's Granulomatosis in Dental Practice" (Al-Farabi Kazakh National University, Kazakhstan).
For students, medical professionals and researchers, the International Student Conference "Fundamental and Clinical Aspects of orphan Diseases" has become a platform for information exchange in a little-studied field of medicine, has allowed to raise the professional level, to consider new approaches to the diagnosis, prevention and treatment of rare diseases.
