Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
43 updates · page 2/3
TürkiyeDiagnosis and screening
In Istanbul, broad gene testing was performed in 17 babies with congenital diaphragmatic hernia.
FranceDiagnosis and screening
In France, 51 children diagnosed with CLN2 disease in 2017-2023 were studied.
TürkiyeDiagnosis and screening
At Hacettepe University, the sleep recordings of 7 people with Creutzfeldt-Jakob disease were studied.
GlobalDiagnosis and screening
Researchers from Harvard Medical School and the CRG in Barcelona introduced popEVE, an artificial intelligence model that uses evolutionary data, in Nature Genetics.
TürkiyeDiagnosis and screening
Ege University applied a scoring chart to 38 patients with a confirmed genetic diagnosis of FCS.
United KingdomDiagnosis and screening
25,000 babies have joined the Generation Study, run by Genomics England with the NHS.
TürkiyeDiagnosis and screening
Genetic testing was performed on adults diagnosed with common variable immunodeficiency at Istanbul University.
EuropeDiagnosis and screening
In Italy, about 2 million newborns were screened between 2019 and 2023.
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.
TürkiyeDiagnosis and screening
At Marmara University, 50 patients with inherited low phosphate levels were studied genetically.
TürkiyeDiagnosis and screening
The F7 gene was studied in 34 patients at Ege University.
TürkiyeDiagnosis and screening
Eye and genetics doctors from Aydın and other provinces studied five patients with achromatopsia.
GlobalDiagnosis and screening
Researchers pooled the results of 41 studies.
SlovakiaDiagnosis and screening
In Slovakia, 37 patients with a widened inner ear canal or Pendred syndrome were studied.
TürkiyeDiagnosis and screening
At İnönü University, the records of 70 babies with jaundice were reviewed.
EUDiagnosis and screening
The EU-funded Screen4Care project published the 245-gene TREAT panel, to be used in newborn genetic screening, in the Orphanet Journal of Rare Diseases.
TürkiyeDiagnosis and screening
Two pediatric gastroenterology centers in Ankara studied prolonged newborn jaundice.
EuropeDiagnosis and screening
In Europe, 37 expert centers re-examined data on rare diseases that had not been diagnosed.