9th Rare and Undiagnosed Diseases Patient Advisory Council was held on December 11

The Rare and Undiagnosed Diseases Patient Advisory Council held its 9th meeting on December 11.

The meeting began with an opening speech by Prof. Ugur Ozbek and continued with a presentation by DEU Molecular Medicine Department faculty member Prof. Ahmet Okay Caglayan on clinical genetic studies of rare and undiagnosed diseases.

The meeting continued with undiagnosed case presentations by clinicians from Dokuz Eylül University Pediatric Hematology, Pediatric Neurology, Pediatric Genetics; Aydın Adnan Menderes University Medical Genetics; and Pamukkale University Medical Genetics departments. The cases were discussed by the council and recommendations were made on how to proceed for a solution.

A total of 43 undiagnosed patient cases were presented to the council in the council meetings held in 2024. Diagnosis was provided for 3 of these patients. For some cases, the plans have been made to investigate the functional effects of mutations and for other cases, the genetic analysis is ongoing.

We would like to thank all researchers and clinicians who participated in the councils this year.