Search Results - orphan+disease

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A Method for Promoting Structural and Functional Rescue of Photoreceptors in the Eye to Treat Advanced Retinal Degeneration.

Discovery and use of retina-specific promoters to rescue photoreceptor function specifically at clinically relevant, advanced stages of disease.

Published: 1/24/2025

Silencing of PRLΔE1 expression: a gene-agnostic treatment for retinal degenerations

Viral vector-mediated gene silencing of a novel short retinal isoform of Prolactin promotes photoreceptor survival.

Published: 4/25/2025

Site-blocking oligos (SBO) upregulate utrophin for treatment of Duchenne Muscular Dystrophy (DMD

Synthetic oligonucleotides blocking natural degradation of utrophin to treat muscular dystrophy.

Published: 6/20/2024

Use of MAPK Pathway Inhibitors for the Treatment of Friedreich Ataxia

A novel treatment for rare disease Friedreich ataxia using p38 or MK2 kinase inhibitors

Published: 6/21/2024

Human Monoclonal Autoantibodies to ADAMTS13 and Uses Thereof

Human anti-ADAMTS13 antibodies cloned from patients with acquired thrombotic thromobocytopenia purpura (TTP) for use in targeted therapies, and generation of animal models that recapitulate pathologic features of TPP.

Published: 1/11/2024