Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
312 updates · page 8/16
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
The 9th Hematologic Rare Diseases Congress brought together about 300 scientists.
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.
United KingdomResearch and clinical trials
In London, 42 children who had a stem cell transplant for chronic granulomatous disease were studied.
GlobalResearch and clinical trials
An international study pooling the results of stem cell transplantation in Morquio A syndrome has been published.
ItalyResearch and clinical trials
In Italy, six patients with Krabbe disease that began late in childhood received a stem cell transplant.
TürkiyeDiagnosis and screening
In Samsun, 563 patients with bronchiectasis but without emphysema were screened.
TürkiyeResearch and clinical trials
Eye doctors at Ankara University studied the eyes of 50 people with albinism.
EUNew treatments and approvals
On January 19, 2026, the European Commission approved donidalorsen, which prevents hereditary angioedema attacks.
EUNew treatments and approvals
On January 19, 2026, the European Commission approved levacetylleucine for Niemann-Pick type C disease.
EuropeResearch and clinical trials
Pregnancy information on 39 women with a disease in this group was collected from doctors in Europe and North America.
TürkiyeResearch and clinical trials
Eye doctors at Başkent University studied the eyes of 34 patients with Alport syndrome.
TürkiyeSGK and reimbursement
On January 17, 2026, migalastat, used in Fabry disease, was added to the SGK (Social Security Institution) reimbursement list.
GlobalResearch and clinical trials
The study called CANDID is following 111 children and young people with CDKL5 deficiency.