Summary: Spinal muscular atrophy (SMA) is a severe inherited disease that affects infants and young children, causing progressive muscle weakness and difficulty breathing. It occurs when the body lack...

Health researchers at the University of Alberta will lead projects exploring next-generation treatments, advanced AI diagnostics, health-care equity and chronic disease recovery, thanks to $20.4 milli...

Advancing the Future of Muscular Dystrophy Research A Legacy Inspired by Garrett Cumming Garrett Cumming was three years old when he was diagnosed with Duchenne muscular dystrophy (DMD), a severe gene...

Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...

A University of Alberta medical genetics research team is developing an RNA-based treatment for fibrodysplasia ossificans progressiva (FOP), a rare disease that turns muscles and tendons to bone.

Anwar and colleagues report that lipid nanoparticle (LNP) delivery significantly enhances the efficacy and safety of antisense gapmers targeting DUX4 in facioscapulohumeral muscular dystrophy. These p...

YouTube video by Darke Hall Society

Anwar and colleagues report a chemically optimized antisense gapmer strategy that selectively silences the pathogenic ACVR1R206H allele in fibrodysplasia ossificans progressiva, sparing the wild-type ...

Results of the 2026 Summer Studentship Competition WCHRI Summer Studentship program aims to encourage a new generation of talented, engaged young researchers to pursue careers in women’s and/or chil...

Press ReleasePDF版はこちら2026年1月29日報道関係者各位アイパークインスティチュート株式会社日本希少疾患コンソーシアム2025年度年会 湘南アイパークにて開催～ 「N-of‑1+」...

Throughout the year, 100 Falling Walls Labs take place all over the world. The winners pitch their breakthrough ideas at the Science Summit.

Pioneering the Future of Muscular Dystrophy Research at the University of Alberta Garrett Cumming was only three years old when he was diagnosed with Duchenne Muscular Dystrophy (DMD), the most common...

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease characterized by decreased expression of the survival of motor neuron 1 (SMN1) gene. Antisense oligonucleotide (ASO)-based therapies have been developed recently as a means of increasing the...

Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by mutations in the DMD gene that leads to the loss of the dystrophin protein. Exon-skipping therapy with phosphorodiamidate morpholino oligomers (PMOs) has been shown to restore the disrupted...

Only a small fraction of disease-modifying proteins present druggable pockets for conventional small-molecule or biologic therapies, underscoring the urgent need for innovative strategies such as n...

The Rare Disease Consortium Japan (RDCJ) is a newly formalized cross-sector initiative launched to address the urgent and growing needs of individuals living wi...

From understanding self-perceptions to advancing disease treatments, WCHRI's graduate students are shaping the future of women's and children's health research.

This book presents a collection of protocols reflecting the latest advancements in exon skipping and inclusion strategies.