Nonprofit Group Team Joseph Helps Meet the Needs of Patients With DMD
The nonprofit Team Joseph raises money for scientific studies, but also looks for immediate gaps or needs not being met by other patient organizations.
The nonprofit Team Joseph raises money for scientific studies, but also looks for immediate gaps or needs not being met by other patient organizations.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Marissa Penrod, founder of the Indiana-based nonprofit group Team Joseph.
Fazirsiran is associated with a notable reduction in the concentration of Z-AAT, the most common form of alpha-1 antitrypsin (AAT) causing AAT deficiency (AATD), in the serum and liver as well as with improvements in the concentrations of liver enzymes, according to the results of a phase 2 clinical trial published in the New England…
The histone deacetylase inhibitor valproic acid cooperates with nusinersen-like antisense oligonucleotides to promote the inclusion of exon 7 and transcriptional elongation from the SMN2 gene, which means that more functional SMN protein can be made from the SMN2 gene. This approach could increase the efficacy of nusinersen and other antisense oligonucleotides for the treatment of…
Scientists have reported that a combinatorial therapy of antisense oligonucleotide (ASO) mediated therapy and low dose SMN with the protective modifier Chp1 is unable to significantly decrease the key pathological features of spinal muscular atrophy (SMA), as published in the Neurobiology of Disease. SMA is a progressive neurodegenerative disorder that often results in early death.…
One session of autogenic drainage can enhance peripheral clearance in children with cystic fibrosis (CF), particularly those with bronchial congestion, according to a study published in BMC Pulmonary Medicine. The researchers noted that the technique did not modify peripheral resistance in children without congestion. “In a long-term comparative study in adolescents with CF, autogenic drainage…
A pulmonary fibrosis foundation and a professional medical association have teamed up to slash the time it takes to diagnose idiopathic pulmonary fibrosis.
Rare Disease Advisor senior correspondent interviews Mary Beth Scholand, MD, director of the Interstitial Lung Disease Program at the University of Utah in Salt Lake City.
Adaptive and innate lymphocyte populations contribute to interleukin (IL)-17A-dependent pathologies in the end-stage of chronic lung diseases such as idiopathic pulmonary fibrosis (IPF) and cystic fibrosis (CF), according to a new study published in Clinical and Translational Immunology. The study also showed that pathogens drive the secretion of IL-17A. IL-17A and IL-22 play an important…
The use of BOS-318 in human ex vivo models has shown an increase in airway hydration, mucociliary clearance, and protection against epithelial cell death due to Pseudomonas aeruginosa infection, therefore suggesting a potential therapeutic value in cystic fibrosis (CF), as published in Cell Chemical Biology. The pathogenesis of CF is associated with an epithelial sodium channel…