Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
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TürkiyeResearch and clinical trials
At an eye center in southern Türkiye, surgeries for congenital glaucoma (high eye pressure present from birth) were reviewed.
TürkiyeDiagnosis and screening
In Ankara, the genetic test results of patients diagnosed with Stargardt disease were reviewed.
TürkiyeDiagnosis and screening
At Ankara Bilkent City Hospital, 2,243 children with low ALP levels were studied.
TürkiyeDiagnosis and screening
In Samsun, patients with emphysema of the lungs were screened for alpha-1 antitrypsin deficiency.
TürkiyeResearch and clinical trials
Patients with GSD type 1 followed in Ankara between 2000 and 2024 were studied.
TürkiyeResearch and clinical trials
The Ministry of Health's e-health records from 2015–2024 were searched.
TürkiyeDiagnosis and screening
At Marmara University, 50 patients with inherited low phosphate levels were studied genetically.
TürkiyeResearch and clinical trials
Çukurova University reviewed the records of 132 patients with a confirmed genetic diagnosis.
TürkiyeDiagnosis and screening
The F7 gene was studied in 34 patients at Ege University.
TürkiyeResearch and clinical trials
Hacettepe University measured anxiety in children with inherited rhythm disorders and in their families.
TürkiyeResearch and clinical trials
In Türkiye, 215 patients from 19 hematology centers were enrolled in the registry.
TürkiyeDiagnosis and screening
Eye and genetics doctors from Aydın and other provinces studied five patients with achromatopsia.
TürkiyeResearch and clinical trials
Genetics centers in Türkiye studied 32 people with hypohidrotic ectodermal dysplasia.
TürkiyeResearch and clinical trials
Doctors from many provinces of Türkiye studied GPA patients whose disease started with joint inflammation.
TürkiyeSGK and reimbursement
SGK (Social Security Institution) announced that it will add a drug used to treat cystic fibrosis to the reimbursement list.
TürkiyeHealth policy
The Takayasu working group of the Turkish Society for Rheumatology published the first national recommendations.
TürkiyeSGK and reimbursement
Minister Işıkhan announced that 54.4 billion lira was allocated for rare disease treatments in 2024.
TürkiyeResearch and clinical trials
At Hacettepe, 72 patients with 22q11.2 deletion (DiGeorge) syndrome were followed.
TürkiyeResearch and clinical trials
Çukurova University studied 51 cystinosis patients with brain, nerve and hearing tests.
TürkiyeResearch and clinical trials
Pediatric endocrinology centers in Türkiye studied 69 children with Silver-Russell syndrome.