TürkiyeDiagnosis and screening
Two new gene changes found in three families with achromatopsia in Türkiye
Eye and genetics doctors from Aydın and other provinces studied five patients with achromatopsia.
Peer-reviewed publicationAchromatopsia
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
Ectodermal dysplasia in 25 families from Türkiye: seven new gene changes
Genetics centers in Türkiye studied 32 people with hypohidrotic ectodermal dysplasia.
Peer-reviewed publicationEctodermal (HED)
EUNew treatments and approvals
EU approves mirdametinib for NF1-related plexiform neurofibromas that cannot be removed by surgery
The European Commission granted conditional approval to mirdametinib for NF1-related plexiform neurofibromas.
Official drug approvalNF1
TürkiyeResearch and clinical trials
Joint involvement in 56 GPA patients in Türkiye: in most, many joints were affected at once
Doctors from many provinces of Türkiye studied GPA patients whose disease started with joint inflammation.
Peer-reviewed publicationGPA (Wegener's)
GlobalResearch and clinical trials
Rugonersen found safe in a phase 1 study in Angelman syndrome
A phase 1 study of a drug called rugonersen was carried out with 61 children with Angelman syndrome.
Peer-reviewed publicationAngelman
GlobalDiagnosis and screening
MPS VII is the most common lysosomal disease among genetic causes of fluid buildup in unborn babies
Researchers pooled the results of 41 studies.
Peer-reviewed publicationSly syndrome
USAResearch and clinical trials
New center launched for individualized gene-editing therapies for children
The Chan Zuckerberg Initiative and the Innovative Genomics Institute announced that they have set up a new center.
Official statement or regulation
United KingdomHealth policy
England's 10-year health plan aims to offer genome testing to newborns
The English government's 10-year health plan aims, in the long term, to offer genome sequencing at birth to everyone.
Official statement or regulation
EUNew treatments and approvals
New once-daily triple CFTR modulator approved in the EU for cystic fibrosis
The European Commission has approved the combination vanzacaftor/tezacaftor/deutivacaftor for cystic fibrosis.
Official drug approvalCystic fibrosis
GlobalResearch and clinical trials
Gene therapy improved hearing in 10 patients with congenital OTOF-related hearing loss
In a study run by the Karolinska Institutet and centers in China, 10 patients aged 1–24 years received a gene therapy delivering a functional OTOF gene into the inner ear.
Peer-reviewed publicationOTOF
TürkiyeSGK and reimbursement
SGK to add a drug used in cystic fibrosis treatment to reimbursement
SGK (Social Security Institution) announced that it will add a drug used to treat cystic fibrosis to the reimbursement list.
Official statement or regulationCystic fibrosis
USAResearch and clinical trials
Gene therapy improved vision in 3 adults with Leber congenital amaurosis caused by the LCA5 gene
In the USA, a gene therapy was tested for congenital blindness due to the LCA5 gene.
Peer-reviewed publicationLCA
GlobalResearch and clinical trials
Stem cell transplant in 21 children with alpha-mannosidosis: no deaths, some findings decreased
In an international study that included Ankara, 21 children who had a stem cell transplant for alpha-mannosidosis were studied.
Peer-reviewed publicationAlpha-mannosidosis
TürkiyeHealth policy
Turkish Society for Rheumatology publishes first national diagnosis and treatment recommendations for Takayasu arteritis
The Takayasu working group of the Turkish Society for Rheumatology published the first national recommendations.
Peer-reviewed publicationTakayasu
USANew treatments and approvals
First approval for alkaptonuria in the USA: nitisinone reduces homogentisic acid in urine
The FDA approved nitisinone to reduce homogentisic acid in the urine of adults with alkaptonuria.
Official drug approvalAlkaptonuria
TürkiyeSGK and reimbursement
SGK paid 54.4 billion lira for rare disease treatments in 2024
Minister Işıkhan announced that 54.4 billion lira was allocated for rare disease treatments in 2024.
News report
EUNew treatments and approvals
European Commission grants conditional approval to oral givinostat for DMD
The European Commission has granted conditional marketing authorization to givinostat for patients with DMD.
Official drug approvalDMD
TürkiyeResearch and clinical trials
72 DiGeorge patients in Ankara: immune findings and signs of a severe course studied
At Hacettepe, 72 patients with 22q11.2 deletion (DiGeorge) syndrome were followed.
Peer-reviewed publicationDiGeorge (22q11)
USAResearch and clinical trials
Intravenous trehalose did not slow ALS in a phase 2/3 study
Trehalose was tested in the HEALEY ALS study, carried out at 60 centers in the USA.
Peer-reviewed publicationALS
TürkiyeResearch and clinical trials
51 cystinosis patients in Çukurova: nervous system involvement in one in two patients
Çukurova University studied 51 cystinosis patients with brain, nerve and hearing tests.
Peer-reviewed publicationCystinosis