As part of an international collaboration on Ataxia-Telangiectasia (AT), a rare genetic disorder, Prof. Thomas Crawford from Johns Hopkins University and Dr. Claudio M. de Gusmao from Harvard University visited the Koç University Translational Medicine Research Center (KUTTAM) and the Rare Diseases Research Laboratory (NDAL) in Istanbul between February 4 - 7, 2025.
During their visit, the two specialists conducted in-depth clinical evaluations of five children in Turkey who may benefit from antisense oligonucleotide (ASO) therapy. The Boston-based Dr. Yu also joined the meetings virtually. AT Association Chair, attorney Güneş Uyar, was present at the sessions, which were held in collaboration with NDAL's research team.
These meetings at NDAL offered a significant opportunity to share clinical knowledge and advance the process of making ASO therapy accessible in Turkey. The next planned step is to initiate official consultations with the Ministry of Health regarding the necessary regulations.