Rare and Undiagnosed Diseases Advisory Council Met on March 6th

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

At the second meeting of this year, clinicians from Dokuz Eylül University, Pamukkale University and Ege University presented cases that were undiagnosed or remained unsolved after various genetic analyses.

We also introduce rare disease research opportunities and IBG’s infrastructure in our councils, to ensure that we can reach a wider circle of researchers. In our meeting this month, the leader of the “Zebrafish Models Laboratory”, Dr. Gülçin Çakan Akdoğan and “Gene Targeting and Transgenic Models Platform” leader Dr. Kasım Diril introduced zebrafish and mouse modeling techniques and rare disease studies using these models.

Also, Prof. Tunahan Çakır, PhiTech Bioinformatics, introduced their R&D studies in this field with a presentation titled “Transcriptome analysis in rare disease diagnosis”.

We thank all our participants.