Search Results - orphan+disease

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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. Problem: Age-related macular degeneration (AMD) and inherited retinal degeneration (IRDs) have extreme mutational heterogeneity, and many IRDs are orphan diseases. Developing individual gene therapies for each causative gene is impractical...
Published: 7/2/2024   |   Inventor(s): William Beltran, Raghavi Sudharsan
Keywords(s): Drug Target, Gene Therapy, Genetic Disorders, Neurodegenerative Diseases, Ophthalmology, Orphan Disease
Category(s): Technology Classifications > Therapeutics
Small Molecule Activators of Valosin-Containing Protein (VCP) as Therapeutics for Neurodegenerative Diseases with Ubiquitinated Protein Aggregates
Small molecule therapeutics that aid in clearing abnormal protein deposits observed in neurodegenerative diseases. Problem: Dementia, characterized by the impairment of at least two brain functions, such as memory loss and judgment, currently has no cure. Two common neurodegenerative diseases that cause dementia are Frontotemporal Dementia (FTD) and...
Published: 2/9/2024   |   Inventor(s): Edward Lee, Benjamin Creekmore, Jessica Phan
Keywords(s): Aging, Genetic Disorders, Neurodegenerative Diseases, Neurology, Orphan Disease, Small Molecule
Category(s): Technology Classifications > Therapeutics
Site-blocking oligos (SBO) upregulate utrophin for treatment of Duchenne Muscular Dystrophy (DMD
Synthetic oligonucleotides blocking natural degradation of utrophin to treat muscular dystrophy. Problem: Duchenne Muscular Dystrophy (DMD) is a severe form of muscular dystrophy affecting males. A genetic mutation causes decreased production of dystrophin, a critical protein connecting cells to surrounding tissue. This leads to improper muscle...
Published: 6/20/2024   |   Inventor(s): Tejvir Khurana
Keywords(s): Genetic Disorders, Neurodegenerative Diseases, Orphan Disease
Category(s): Technology Classifications > Therapeutics
Amniotic Fluid Stabilized Lipid Nanoparticles (LNPs) for In Utero Intra-Amniotic mRNA Delivery
Nanoparticles for potent encapsulation and delivery of therapeutic molecules for prenatal fetal therapy in the amniotic sac Problem: Many prenatal genetic diseases suffer from ineffective postnatal treatments. For this reason, therapies that are delivered to the fetus before birth hold promise to treat diseases prior to or in the early stages of...
Published: 2/7/2024   |   Inventor(s): Michael Mitchell, Kelsey Swingle, Margaret Billingsley, William Peranteau
Keywords(s): Bioengineering, Cell Therapy, Gene Editing, Gene Therapy, Genetic Disorders, Immunology, Nanotechnology, Orphan Disease, Platform Technology
Category(s): Technology Classifications > Therapeutics
Novel Compounds for Treatment for Friedreich Ataxia
New compounds identified through high throughput screening which improve mitochondrial function of Friedreich ataxia cells. Technology Overview: Friedreich ataxia (FA) is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, skeletal deformities, and hypertrophic cardiomyopathy....
Published: 1/11/2024   |   Inventor(s): Robert Wilson
Keywords(s): Neurodegenerative Diseases, Orphan Disease
Category(s): Technology Classifications > Therapeutics
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 Technology Overview: Friedreich ataxia (FA) is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, skeletal deformities, and hypertrophic cardiomyopathy. FA is the most prevalent inherited...
Published: 6/21/2024   |   Inventor(s): Robert Wilson
Keywords(s): Orphan Disease
Category(s): Technology Classifications > Therapeutics
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. Technology Overview: Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening blood disorder where blood clots form...
Published: 1/11/2024   |   Inventor(s): Donald Siegel, Eric Ostertag, X. Long Zheng
Keywords(s): Orphan Disease
Category(s): Technology Classifications > Diagnostics, Technology Classifications > Research Tools & Reagents, Technology Classifications > Therapeutics