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 10/16
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.
TürkiyeResearch and clinical trials
In Rize and Istanbul, 6 patients with ichthyosis due to the ALOX12B gene were studied.
JapanResearch and clinical trials
In Japan, the records of 91 genetically diagnosed patients with Kennedy disease were studied.
USANew treatments and approvals
The FDA approved plozasiran for adults with FCS, in addition to diet.
GlobalResearch and clinical trials
In the international LAL deficiency registry, 29 patients with the severe form starting in infancy were studied.
USAHealth policy
Writing in NEJM, FDA leaders described an approval pathway called the 'plausible mechanism' pathway for individualized therapies for which randomized trials cannot be conducted.
TürkiyeResearch and clinical trials
At Ankara Bilkent City Hospital, 24 children with myotonic dystrophy type 1 were studied.
TürkiyeResearch and clinical trials
In Istanbul, 25 patients were tested with a multigene panel.
TürkiyeDiagnosis and screening
Ege University applied a scoring chart to 38 patients with a confirmed genetic diagnosis of FCS.
USANew treatments and approvals
The FDA approved the combination of doxecitine and doxribtimine for children and adults with TK2 deficiency whose symptoms began at or before age 12.
TürkiyeResearch and clinical trials
In Istanbul, 24 babies diagnosed with infantile spasms were monitored during low-dose ACTH treatment.
United KingdomDiagnosis and screening
25,000 babies have joined the Generation Study, run by Genomics England with the NHS.
TürkiyeResearch and clinical trials
Istanbul Faculty of Medicine studied 54 women with Wilson disease.
USAResearch and clinical trials
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
USANew treatments and approvals
The FDA approved obinutuzumab as an add-on to standard treatment in adults with active lupus nephritis.
USA and United KingdomResearch and clinical trials
Long-term results of stem cell gene therapy for severe combined immunodeficiency due to ADA deficiency have been published.
GlobalResearch and clinical trials
In the phase 3 trial, 40 adults received venglustat and 19 adults received placebo.
TürkiyeResearch and clinical trials
A total of 48 patients from different regions of Türkiye underwent eye and ear examinations.
TürkiyeResearch and clinical trials
Led by Istanbul University-Cerrahpaşa, a survey was conducted with families of children with Still's disease.
TürkiyeDiagnosis and screening
Genetic testing was performed on adults diagnosed with common variable immunodeficiency at Istanbul University.