- Development of strategies for the prevention of diseases
- Coordination and execution of multidisciplinary research on the prevalence, epidemiology and screening of rare diseases
- Determination of the burden of disease and development of solution proposals
- Contribution to the creation of a national registration system
- Making a geographical map in terms of rare diseases
- Presentation of projects that will help in the establishment of the national registration system
- Developing strategies and making recommendations for prenatal and newborn screening
- Ensuring/increasing participation in national clinical programs
- Establishment and support of licensed research and application diagnostic and treatment centers
- To make genetic counseling widespread and accessible, to establish a genetic counseling unit
- Offering early diagnosis and treatment opportunities
- Development of kits, methods, etc. that can be used in diagnosis and follow-up
- Creation of diagnostic algorithms
- Creation of a biobank
- Identification of treatment models
- Preparation of treatment guidelines
- Providing services and consultancy on the use of scientific data in the diagnosis and treatment of rare diseases
- Establishment of diagnostic and treatment services for patients in nearby neighboring countries with existing patient services, research, education and the work of stakeholders in coordination
- Providing support in developing science policies by providing consultancy to Ministries and funding organizations in order to use scientific data
- Creating awareness about the diagnosis and treatment of rare diseases at the public level, using information in a useful way and creating the right supply and demand
- Evaluation of periodic reports and expressing opinions about the diagnosis and treatment process of rare diseases
- Preparing rule algorithms to protect both the patient and the physician by working with the faculty of law while conducting treatment studies
- Increasing the awareness and applicability of good medical practices
- Creation of the necessary physical infrastructure and regulatory infrastructure for the production of orphan drugs in our country
- Carrying out phase studies for new treatments
- Ensuring that orphan drugs are paid into the reimbursement system by providing flexibility in pricing and discount rates
- Ensuring that diagnostic/screening tests are defined outside the package within the scope of payback in third-line health institutions for rare diseases that can be treated with Advanced Medical Treatment Products
- Application of treatments such as gene therapies, stem cell therapies in appropriate patients
- In the field of education; training of scientists and specialized medical personnel, creation of doctoral and master’s degree programs, certification programs, educational seminars, realization of workshops and scientific activities
- Sharing articles and creating activities through press publication that raise public awareness and raise awareness