MRI studies of patients and dysferlinopathic mice reveal early fatty degeneration of spinal muscles driven by adipogenic progenitors, with GSK3 inhibition blocking the process in preclinical tests.
Hello!We are the Patient Access Team. We operate an online community for patients and their families regarding six rare diseases, including hemophilia. Today, we would like to share some highlights from the online exchange meeting held on 10/26 in the…
A decision tree model estimates that a rigorous accuracy study of NIPT for sickle cell screening in England would require up to 315,824 pregnancies, prompting proposals for alternative study designs. Subject of Research: Decision tree modelling of minimally acceptable accuracy criteria…
Myobundles were treated as technical replicates within each donor. Because the study included a single donor per condition, the results are presented descriptively, without inferential statistics. Compared with myobundles from the healthy pediatric donor, constructs from all three donors with…
A systematic review of 58 studies finds that transfusion-based stroke prevention established by the STOP trials remains the cornerstone for sickle cell disease, while delivery gaps and weak adult evidence persist. Subject of Research: Stroke prevention in sickle cell disease since…
An FDA committee voted 9-3 that available data did not provide substantial evidence of effectiveness for deramiocel in DMD. Long-Term Data Reinforce Givinostat Efficacy, Safety in DMD DYNE-251 Granted FDA Breakthrough Therapy Designation for DMD FDA Recommends Sarepta Resume DMD Gene Therapy…
New laboratory research shows that macrophages from people with cystic fibrosis are intrinsically impaired in controlling the virulent rough morphotype of Mycobacterium abscessus, with defective oxidative burst, altered cytokines and reduced apoptosis.
Why the research is interesting: The findings demonstrate that motor deficits in neurodevelopmental disorders can be associated with defects in specific brain circuits and that these circuits can retain a degree of plasticity later in life. This emphasizes the importance…
The trial uses the patient's own hematopoietic stem cells King Faisal Specialist Hospital and Research Centre (KFSH) is advancing gene therapy for sickle cell disease through a 2026 clinical trial that uses the patient’s own hematopoietic stem cells, genetically modified to…
A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1âGâ>âG/T and c.6310-2âAâ>âA/T), whereas... Thank you for visiting nature.
Sickle cell disease, thalassemia, haemophilia, Duchenne muscular dystrophy and cystic fibrosis: their genetics and new gene and cell therapies.
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