Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
235 updates · page 10/12
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.
USAResearch and clinical trials
In SLOS, the body cannot make enough cholesterol; treatment is cholesterol supplementation.
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.
GlobalResearch and clinical trials
A phase 1 study of a drug called rugonersen was carried out with 61 children with Angelman syndrome.
GlobalDiagnosis and screening
Researchers pooled the results of 41 studies.
GlobalResearch and clinical trials
In a study run by the Karolinska Institutet and centers in China, 10 patients aged 1–24 years received a gene therapy delivering a functional OTOF gene into the inner ear.
USAResearch and clinical trials
In the USA, a gene therapy was tested for congenital blindness due to the LCA5 gene.
GlobalResearch and clinical trials
In an international study that included Ankara, 21 children who had a stem cell transplant for alpha-mannosidosis were studied.
TürkiyeHealth policy
The Takayasu working group of the Turkish Society for Rheumatology published the first national recommendations.
TürkiyeResearch and clinical trials
At Hacettepe, 72 patients with 22q11.2 deletion (DiGeorge) syndrome were followed.
USAResearch and clinical trials
Trehalose was tested in the HEALEY ALS study, carried out at 60 centers in the USA.