Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
11 updates
JapanDiagnosis and screening
OTC deficiency is a urea cycle disorder that causes ammonia levels to rise, and it is hard to detect through screening.
GlobalDiagnosis and screening
A panel of international eye specialists prepared an imaging guideline for VKH.
GlobalDiagnosis and screening
DeepRare, an artificial intelligence system developed by researchers in Shanghai, was published in Nature.
FranceDiagnosis and screening
In France, 51 children diagnosed with CLN2 disease in 2017-2023 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.
EuropeDiagnosis and screening
In Italy, about 2 million newborns were screened between 2019 and 2023.
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.
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.
EuropeDiagnosis and screening
In Europe, 37 expert centers re-examined data on rare diseases that had not been diagnosed.
USADiagnosis and screening
In New York City, USA, babies are screened with genome sequencing in addition to the heel-prick blood test.