IBG hosted the NF1 Adaptive Clinical Guideline Development Workshop
On April 15, 2026, the Neurofibromatosis Type 1 (NF1) Adaptive Clinical Guideline Development Workshop was held at the İzmir Biomedicine and Genome Center (IBG). The workshop brought together experts from different disciplines to contribute to the development of a national, multidisciplinary, and practical clinical guideline for NF1.
The workshop was organized through the collaboration of the İSTisNA project supported by the Istanbul Development Agency, Prof. Dr. Pınar Gençpınar and Prof. Dr. Uğur Özbek fromIBG and the RareBoost project, and Prof. Dr. Esra Meltem Koç from the Evidence-Based Medicine Association. The meeting focused on key aspects of screening, diagnosis, treatment, follow-up, and rehabilitation of NF1 patients, and included discussions toward developing a guideline adapted to national needs.
A total of 45 experts participated in the workshop. Contributions from different areas of expertise provided an important foundation for strengthening the scientific content of the guideline and enhancing its applicability in clinical practice. The draft guideline discussed during the workshop covers a wide range of topics, including diagnostic criteria; dermatological, ophthalmological, orthopedic, endocrine, cardiovascular, neurological, and oncological findings; genetic testing; genetic counseling; differential diagnosis; and long-term follow-up and management. The guideline is being developed using international evidence-based guideline development methodologies and is adapted to Türkiye’s healthcare system and local context.
One of the organizers, Prof. Dr. Pınar Gençpınar, emphasized that NF1 is a chronic and rare genetic disorder that affects multiple organ systems and can impact patients’ physical, psychological, and social lives from birth onward. Although classified as a rare disease, she noted that NF1 is among the most common rare diseases, and that a significant number of individuals in Türkiye live with this diagnosis.
Prof. Dr. Gençpınar also highlighted that the lack of a comprehensive guideline for the clinical follow-up of NF1 patients has long been recognized. Addressing this need, she stated that this initiative was launched to develop such a guideline, bringing together many experts from different clinical fields and disciplines.
This workshop marks an important step toward the development of an NF1 adaptive clinical guideline tailored to Türkiye. Once completed, the guideline will be shared with expert clinicians in the relevant fields.
