TürkiyeDiagnosis and screening
Simple diagnostic score based on three findings developed for biliary atresia in Malatya
At İnönü University, the records of 70 babies with jaundice were reviewed.
Peer-reviewed publicationBiliary atresia
Rare Diseases
News
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
187 CTEPH patients from 8 centers in Türkiye: other conditions often affect the surgery decision
The records of 187 CTEPH patients from eight specialist centers in Türkiye were reviewed.
Peer-reviewed publicationCTEPH
TürkiyeDiagnosis and screening
Causes of jaundice in 378 babies in Ankara: inherited diseases such as PFIC account for a significant share
Two pediatric gastroenterology centers in Ankara studied prolonged newborn jaundice.
Peer-reviewed publicationPFIC
TürkiyeResearch and clinical trials
29 children with congenital nephrotic syndrome in Ankara: kidney removal reduced the burden in selected patients
At Hacettepe, 29 children with a change in the NPHS1 gene were studied.
Peer-reviewed publicationFinnish-type nephrotic
TürkiyeResearch and clinical trials
Long-term follow-up of 491 children with retinoblastoma at Hacettepe: 13 developed a second cancer
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
Peer-reviewed publicationRetinoblastoma
TürkiyeSGK and reimbursement
A third SMA drug to be added to the reimbursement list, minister announces
Another drug used to treat children with SMA will be added to the SGK (Social Security Institution) reimbursement list.
Official statement or regulationSMA
TürkiyeResearch and clinical trials
Childhood glaucoma in Sturge-Weber syndrome: surgical results in 22 eyes from Türkiye
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
Peer-reviewed publicationSturge-Weber
TürkiyeSGK and reimbursement
16 drugs added to SGK reimbursement list, including one for a genetic nerve disease
With an amendment to the Sağlık Uygulama Tebliği (SUT, Health Implementation Communiqué), 16 drugs were added to the SGK (Social Security Institution) reimbursement list.
Official statement or regulation
TürkiyeResearch and clinical trials
In Türkiye, enzyme therapy improved blood values and shrank the spleen in 29 patients with Gaucher disease
Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed.
Peer-reviewed publicationGaucher
TürkiyeResearch and clinical trials
Stem cell transplantation in 17 children with MPS VI in Antalya: all engrafted, enzyme levels normalized
Results of stem cell transplantation in children diagnosed with MPS VI at a center in Antalya have been published.
Peer-reviewed publicationMaroteaux-Lamy
TürkiyeResearch and clinical trials
National health records: NMOSD affects about 2 in 100,000 people in Türkiye
The ministry's national health records were searched.
Peer-reviewed publicationNMOSD
TürkiyeResearch and clinical trials
Hemophilia gene therapy in Türkiye: 46 patients treated in clinical trials
According to the Federation of Hemophilia Associations, 46 hemophilia patients in Türkiye received gene therapy in clinical trials.
News reportHemophilia
TürkiyeResearch and clinical trials
Long-term outcomes of 50 patients with propionic acidemia from Hacettepe
Hacettepe University studied 50 patients diagnosed between 1984 and 2020.
Peer-reviewed publicationPropionic acidemia
TürkiyeResearch and clinical trials
Hacettepe: fewer eye blood vessels in Fanconi anemia even when the back of the eye looks normal
At Hacettepe University in Ankara, the eye blood vessels of patients with Fanconi anemia were studied.
Peer-reviewed publicationFanconi anemia
TürkiyeResearch and clinical trials
Genetic map of 311 CMT patients in Türkiye: recessively inherited types more common
In Istanbul, 311 CMT patients from 265 families were studied.
Peer-reviewed publicationCMT
TürkiyeDiagnosis and screening
Gene panel in 18 patients with hereditary spherocytosis in Istanbul: 9 new gene changes identified
At Marmara University, 18 pediatric patients were studied genetically.
Peer-reviewed publicationSpherocytosis
TürkiyeResearch and clinical trials
Gene findings in 17 patients with Cornelia de Lange syndrome published from Ankara
Doctors from Ankara Bilkent City Hospital studied children with Cornelia de Lange syndrome.
Peer-reviewed publicationCornelia de Lange
TürkiyeDiagnosis and screening
18 patients with Beckwith-Wiedemann in Ankara: international scoring found helpful for diagnosis
Children with Beckwith-Wiedemann syndrome were studied at Ankara Bilkent City Hospital.
Peer-reviewed publicationBeckwith-Wiedemann
TürkiyeHealth policy
2025 Annual Program: more rare disease centers, neuromuscular units to reach 30
The Ministry of Health will increase the number of treatment and research centers for rare diseases.
Official statement or regulation
TürkiyeResearch and clinical trials
Gene therapy trials for GM1 gangliosidosis and OTC deficiency at Gazi Hospital
Two gene therapy clinical trials are being carried out at Gazi University.
News reportGM1