Rare and Undiagnosed Diseases Advisory Council met on May 8th

Within the scope of the Rareboost ERAChair project, we bring together clinicians in Izmir and the Aegean region with IBG Rare and Undiagnosed Diseases Platform (IBG-RUDiP) researchers to solve unresolved or undiagnosed patient cases in regular monthly advisory councils.

The fourth meeting of the advisory council this year started with a welcome and an update from Prof. Özbek on the previously presented cases to the advisory council. The meeting continued with a presentation by Dr. Yavuz Oktay from IBG, detailing his laboratory’s work on functional approaches to solve neurogenetic diseases.  

Next, clinicians and geneticists from Dokuz Eylül University and Canakkale 18 Mart University presented cases that were undiagnosed or remained unsolved after various genetic analyses. Each case was discussed and suggestions were made regarding how to proceed.

We thank all our participants.