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
Ear, nose, and throat doctors at Hacettepe University studied the inner ear of patients with CHARGE syndrome.
TürkiyeResearch and clinical trials
In Türkiye, 12 centers jointly studied 69 patients from 52 families.
TürkiyeDiagnosis and screening
A total of 104 patients followed for suspected FMF, but whose genetic test did not confirm it, were screened with a urine test during abdominal pain.
TürkiyeDiagnosis and screening
At Ankara Etlik City Hospital, 9 patients with hereditary fructose intolerance were studied.
TürkiyeResearch and clinical trials
Çanakkale Onsekiz Mart University reported five patients diagnosed with LAM over the past two years.
TürkiyeResearch and clinical trials
In Samsun, the records of 69 children diagnosed with Behçet's disease were reviewed.
TürkiyeResearch and clinical trials
In Türkiye, 107 children with MKD were studied at 25 pediatric rheumatology centers.
USA and United KingdomResearch and clinical trials
The drug is given into the spinal fluid through an injection in the lower back.
TürkiyeResearch and clinical trials
At Ankara University, 8 patients with methylmalonic acidemia were followed step by step.
FranceResearch and clinical trials
In France, the interval of enzyme therapy was studied in patients with stable type 1 Gaucher disease.
TürkiyeDiagnosis and screening
A laboratory study in Ankara examined factors that affect the result of biotinidase screening.
TürkiyeResearch and clinical trials
In Erzincan, face-to-face interviews were held with adults with retinitis pigmentosa.
TürkiyeResearch and clinical trials
In Konya, 72 Hirschsprung patients operated on between 2011–2023 were studied.
TürkiyeResearch and clinical trials
In Türkiye, the records of 274 adult patients at 16 centers were reviewed.
GlobalDiagnosis and screening
DeepRare, an artificial intelligence system developed by researchers in Shanghai, was published in Nature.
USAResearch and clinical trials
In an early-stage study in the USA, 6 adults received gene therapy using their own stem cells.
TürkiyeResearch and clinical trials
Istanbul's Zeynep Kamil Hospital retrospectively reviewed ten years of records.
TürkiyeDiagnosis and screening
A total of 21 patients from four pediatric neurology centers were studied.
TürkiyeResearch and clinical trials
At two centers in Izmir, 35 patients were compared with 20 healthy children.
USAResearch and clinical trials
In the USA, 9 children with type II GM1 gangliosidosis were given a single dose of gene therapy into a vein.