The main topic of the annual Rare Diseases Symposium was “Achondroplasia”.
Acıbadem University Rare Diseases and Orphan Drugs Research and Application Center (ACURARE) and ACU Rare Diseases Club organized the symposium at Acıbadem University as part of28th February International Rare Disease Day on 28th February 2019.
Symposium brough together patients, patient relatives, health professionals, researchers and NGO representatives.
Director of ACURARE and head of Acıbadem University School of Medicine Department of Medical Genetics Prof. Dr. Uğur Özbek talked about projects of Rare Diseases and Orphan Drugs Research and Application Center and pointed that the center aims to bring together all stakeholders involved in the subject. Prof. Dr. Özbek noted “The primary goal of the center is to bring together expert clinicians specialized in rare diseases, clinics specialized in diagnosis and treatment of rare diseases, hospitals and other healthcare facilities, laboratories, professional societies and NGOs, patient organizations, researchers in this field and pharmaceutical companies working on orphan drugs to create collaborations to design solutions for the problem.” in his opening remarks.
Dean of the School of Medicine and faculty member at the Department of Pediatrics Prof. Dr. Yasemin Alanay and faculty member at the School of Medicine Department of Orthopedics and Traumatology Assoc. Prof. Salih Marangoz presented their talk on “Health Monitoring and New Treatments in Achondroplasia”. Prof. Dr. Uğur Özbek also contributed to the talk followed curiously by patient relatives, and answered their questions.
In the second half of the program, families were informed on the process of becoming an association from the founder and Vice Chair of Turkey Down Syndrome Association which started its journey as family groups and recently completed the process of becoming an association. They met with representatives of “Rare Diseases Network” formed by the collaboration of 9 rare disease associations. This meeting brought together parens, who has achondroplasic kids, for the first time and created bonds between these families. Meanwhile, children at the activity zone had fun wtih Acıbadem University students.