Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
140 updates · page 2/7
TürkiyeResearch and clinical trials
Researchers in Izmir produced small cornea models from the cells of patients with aniridia.
TürkiyeDiagnosis and screening
At Bezmialem Vakıf University, 60 children underwent SCN1A gene testing.
TürkiyeDiagnosis and screening
In Ankara, 1,359 patients at 8 dialysis centers had a gene test for Fabry disease.
TürkiyeResearch and clinical trials
A patient diagnosed with severe hemophilia B received gene therapy at Gaziantep University Hospital.
TürkiyeResearch and clinical trials
At Marmara University, 6 patients under 18 years of age underwent 7 operations between 2011–2025.
TürkiyeResearch and clinical trials
In Türkiye, pediatric kidney doctors studied children with primary hyperoxaluria in a national registry.
TürkiyeResearch and clinical trials
A total of 134 adults with phenylketonuria followed at Istanbul Faculty of Medicine were studied.
TürkiyeSGK and reimbursement
The criteria for the use and reimbursement of nusinersen and risdiplam in SMA treatment have been revised.
TürkiyeResearch and clinical trials
In Istanbul, 14 MPS patients receiving enzyme therapy were followed for two years.
TürkiyeDiagnosis and screening
At Ankara City Hospital, 14 patients diagnosed with Niemann-Pick type C were reviewed.
TürkiyeResearch and clinical trials
In Türkiye, the move of young people with DMD (Duchenne muscular dystrophy) from child neurology to adult neurology was studied.
TürkiyeDiagnosis and screening
In Türkiye, 81 children from 19 centers were studied.
TürkiyeResearch and clinical trials
At Ümraniye Training and Research Hospital, 70 adult patients seen from 2015–2025 were studied.
TürkiyeResearch and clinical trials
Gaziantep City Hospital studied 27 children.
TürkiyeResearch and clinical trials
Two centers in Istanbul reviewed the records of 50 children diagnosed with GA1.
TürkiyeResearch and clinical trials
At Cerrahpaşa, 6 children diagnosed with a mild form of citrullinemia type 1 were followed over a long period.
TürkiyeResearch and clinical trials
A total of 39 children with aplastic anemia followed at Ege University from 2004–2024 were studied.
TürkiyeResearch and clinical trials
In Türkiye, 76 patients at 6 centers were studied.
TürkiyeResearch and clinical trials
Visits to a pediatric emergency department in Istanbul between 2016–2025 were studied.
TürkiyeDiagnosis and screening
At Ankara University, 63 adults with kidney disease of unknown cause underwent genetic testing.