At AMCP Nexus 2026, Susan M. Wescott, RPh, MBA, discussed how health plans evaluate rare disease therapies amid limited data and high costs. As more rare disease therapies come to market, health plans are often evaluating products for conditions they have never…
FDA draft guidance offers rare disease gene therapy developers clarity on personalized approvals, BLAs, and faster variant updates. Read more here. - The US FDA has unveiled draft guidance designed to assist rare disease therapy developers by providing regulatory clarity in…
Children, adolescents see Spinraza benefits in real-world study Written by Andrea Lobo | Oct. 26, 2026 Treatment with Spinraza (nusinersen) led to sustained improvements in motor function in children and adolescents with spinal muscular atrophy (SMA), according to a real-world study from Czechia…
By Emily Leclerc, Waisman Science Writer It’s hard to predict how a small decision may make a major impact on a person’s life. For Albee Messing, VMD, PhD, Waisman investigator, the decision to pursue what others deemed a ridiculous idea…
Simon Conway working in his lab. Newswise — Scientists at the Indiana University School of Medicine have gained new insights into Barth syndrome, a rare genetic disorder that primarily affects males. In this study, researchers found that the mouse models had…
Fuerza Inc., a Catholic nonprofit supporting Spanish-speaking parents of children with developmental disabilities, celebrated its 40-year anniversary with a Mass on Oct. 18. When Rosario Marín gave birth to her son, Eric, born with Down syndrome 41 years ago, she quickly realized…
The state govt has initiated steps to ensure lifelong access to life-saving medication for all eligible children suffering from spinal muscular atrophy (SMA), health minister K Muraleedharan told the assembly on Thursday.
Published October 29, 2026 | 08:05 PM Speakers at the awareness seminar, including a Sindh government official and PDSA representatives, highlighted rehabilitation, social acceptance and coordinated efforts to protect the rights of children with Down syndrome. Secretary, Department of Empowerment of Persons with Disabilities…
The ‘heart’ of the Fanconi anemia core complex, composed of FANCB-FANCL-FAAP100 (now FANCX) proteins, allows the rest of the core complex to assemble, and is necessary for downstream DNA repair. From patient to pathway It was then that FAAP100 officially gained…
Dublin, Oct. 29, 2026 (GLOBE NEWSWIRE) -- "Shotgun Metagenomics Clinical Reporting Market Global Report 2026" has been added to ResearchAndMarkets.com's offering. The global shotgun metagenomics clinical reporting market is experiencing rapid growth as healthcare organizations increase their use of advanced genomic testing for…
Rare diseases and inherited conditions: muscular dystrophy and SMA, Huntington's disease, Down syndrome and the search for diagnoses and orphan drugs.
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