Search Results - clinical+and+disease+specializations+%3e+rare+diseases

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Gene therapy for SYNGAP1 encephalopathy and SYNGAP1-related disorders

Unmet Need: SYNGAP1-related Intellectual Disability (SRID, MRD5) is a severe neurodevelopmental disorder (NDD) characterized by encephalopathy, intellectual disability (ID), autism spectrum disorder (ASD), and epilepsy and accounts for 0.5-1% of all NDDs and ~1% of the ~200 million ID cases worldwide (SYNGAP Research Fund, 2020). Supportive management...

Published: 5/10/2024 | Inventor(s): Richard Huganir, Ingie Hong, Yoichi Araki, Richard Johnson

Keywords(s):

Category(s): Clinical and Disease Specializations > Rare Diseases, Clinical and Disease Specializations > Neurology, Technology Classifications > Therapeutic Modalities > Gene Therapies

Engineered Extracellular Vehicles as a selective drug delivery platform

Value Proposition:· Engineered extracellular vesicles with enhanced uptake and reduced immunogenicity · Improved EV-based drug delivery platform Technology DescriptionResearchers at Johns Hopkins have identified endogenous proteins that can be engineered to assist in extracellular vesicle and/or nanoparticle therapeutics through increased...

Published: 5/10/2024 | Inventor(s): Kenneth Witwer, Zach Troyer

Keywords(s):

Category(s): Clinical and Disease Specializations > Immuno-Oncology, Clinical and Disease Specializations > Infectious Diseases, Clinical and Disease Specializations > Oncology, Clinical and Disease Specializations > Respiratory Diseases, Clinical and Disease Specializations > Rare Diseases, Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Therapeutic Modalities, Technology Classifications > Diagnostics

Alpha 2 Collagen VIII (Col8a2) Q455K Knock-in Mouse Model of Fuchs Endothelial Corneal Dystrophy

Unmet Need:Fuchs’ endothelial corneal dystrophy (FECD) is a genetic disease affecting the cornea and is estimated to affect 7% of the adult population (see Aiello et al. 2022). The first genetic defect shown to cause FECD was a point mutation in the alpha 2 collagen 8 gene (Col8a2). The disease results in a buildup of fluid in the cornea and causes...

Published: 5/9/2024 | Inventor(s): Albert Jun

Keywords(s): Basic Research Biomarker, Cell Lines, Corneal Dystrophy, Discovery/Research Tools, Disease Indication, Eye Disorders, Fuchs' Endothelial Corneal Dystrophy, Fuchs Endothelial Corneal Dystrophy (FECD), In Vitro Research Tool, Mouse Cell Lines

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools > Cell Lines, Clinical and Disease Specializations > Ophthalmology, Technology Classifications > Research Tools, Clinical and Disease Specializations > Ophthalmology > Corneal Dystrophy, Clinical and Disease Specializations > Ophthalmology > Fuchs' Endothelial Corneal Dystrophy

Gene Expression Profile Determination and Prognostication in Uveal Melanoma Using Artificial Intelligence

Prognostication in Uveal Melanoma Using Artificial Intelligence Disclosure Date:12/05/2018 Description: Unmet NeedUveal melanoma is the most common primary intraocular malignancy in adults. According to the University of Michigan W. K. Kellogg Eye Center, there are 5 to 6 uveal melanoma cases per million people per year. For people over the age of 50,...

Published: 5/9/2024 | Inventor(s): Tin Yan Liu, Zelia Correa

Keywords(s): Biopsy Tools, Cancers, Clinical Diagnostics, Computer and Network Systems, Computer Software, Diagnostic Tool, Disease Indication, Image Analysis Software

Category(s): Clinical and Disease Specializations > Oncology, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > In Vivo Diagnostics, Technology Classifications > Computers, Electronics & Software > Artificial Intelligence

Rufinamide derivatives as novel drugs against epilepsy syndromes caused by aberrant sodium channel behavior

Unmet NeedLennox-Gastaut Syndrome (LGS) is rare and severe form of childhood-onset epilepsy associated with various types of seizures and cognitive dysfunction that persist into adulthood; yet, to date, LGS management is challenged by the lack of reliable diagnostic tests and potentially grave side-effects of available therapeutics. Rufinamide is a...

Published: 5/9/2024 | Inventor(s): Frank Bosmans, Dimpy Kalia

Keywords(s): Antagonists/Inhibitors, CNS and Neurological Disorders, Disease Indication, Epilepsy, Genetic Disorders, Novel, Predicted Novelty, Small Molecules, Therapeutic Matter, Therapeutic Substance, Therapeutics

Category(s): Clinical and Disease Specializations, Technology Classifications > Therapeutic Modalities > Small Molecules, Clinical and Disease Specializations > Neurology, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Neurology > Epilepsy, Clinical and Disease Specializations > Rare Diseases

Human IPSC-Based Drug Testing Platform for Duchenne Muscular Dystrophy

Unmet NeedThe development of new drugs is a capital and time intensive process. For this reason, the development of orphan drugs for those diseases that affect a small subset of the population. One of such diseases, Duchenne’s muscular dystrophy (DMD) affects 1 in 5000 boys worldwide and has no known cure. Current drug screen platforms include animal...

Published: 5/9/2024 | Inventor(s): Gabsang Lee, Kathryn Wagner, Congshan (Sunny) Sun

Keywords(s): Discovery/Research Tools, Disease Indication, In Vitro Research Tool, Muscular Disorders, Small Molecules, Therapeutic Matter, Therapeutic Substance, Therapeutics

Category(s): Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Therapeutic Modalities > Small Molecules, Technology Classifications > Research Tools > Research Stem Cells

Long Noncoding RNAs as Therapeutic and Diagnostic Markers for Childhood Cancer Medulloblastoma

Unmet NeedMedulloblastoma (MB) is the most common pediatric brain tumor and requires aggressive therapy in high-risk cases. MB is frequently resistant to treatment and is associated with high morbidity and mortality in affected individuals. There are four distinct molecular subgroups of MB (WNT, SHH, Group 3, and Group 4), which are characterized by...

Published: 5/9/2024 | Inventor(s): Ranjan Perera, Keisuke Katsushima

Keywords(s): Biomarker, Cancers, Clinical Diagnostics, CNS and Neurological Disorders, Disease Indication, In Vitro Diagnostics (Old), Novel, Predicted Novelty, Target, Therapeutic Matter, Therapeutics

Category(s): Clinical and Disease Specializations > Oncology > Medulloblastoma, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > Diagnostic Biomarkers, Technology Classifications > Therapeutic Modalities > Targets

Screening Method to Identify Scleroderma Immune Responses with Anti-cancer Activity, and Induction of such Immune Responses for Cancer Therapy

Unmet NeedEpidemiological studies have shown that patients with scleroderma, a type of autoimmune rheumatic disease affecting the skin and connective tissues, have an increased risk of developing cancer relative to the general population. The exact etiology of scleroderma is still unknown. The Scleroderma Foundation estimates about 100,000 to 300,000...

Published: 5/9/2024 | Inventor(s): Ami Shah, Livia Casciola-Rosen, Antony Rosen, Takeru Igusa, Marikki Laiho

Keywords(s): Antibodies, Autoimmune Diseases, Biologics, Biomarker, Cancers, Clinical Diagnostics, Diagnostic Biomarker, Disease Indication, In Vitro Diagnostics, Inflammatory Disorders, Risk Stratification, Scleroderma, Skin Disorders, Skin Fibrosis, Therapeutic Matter, Therapeutic Substance, Therapeutics

A novel device to facilitate performing Descemet's Membrane Endothelial Keratoplasty (DMEK)

Unmet NeedOver 3 million U.S. patients suffer from severe eye pain and possible blindness due to corneal dystrophies, which can only be cured by corneal transplants. Corneal transplantation can be performed through surgical procedures known as Descemet’s Stripping Automated Endothelial Keratoplasty (DSAEK) and Descemet’s Membrane Endothelial Keratoplasty...

Published: 5/9/2024 | Inventor(s): Eric Chiang, Kali Barnes, Conan Chen, Anshul Subramanya, Stephanie Cai, Allen Eghrari

Keywords(s): Carriers/Appliers, Corneal Dystrophy, Disease Indication, Eye Disorders, Interventional and Surgical Systems, Surgical Instruments

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Medical Devices > Surgical, Technology Classifications > Medical Devices, Clinical and Disease Specializations > Ophthalmology, Clinical and Disease Specializations > Ophthalmology > Corneal Dystrophy

Cornea Mimetic Biomaterials: Vitrified Collagen-cyclodextrin Implants

Unmet Need:Due to eye injuries and ocular diseases such as keratitis and keratoconus, nearly 5 million patients in the world suffer from corneal blindness. The cornea is a transparent multilayered tissue of the eye that consists of epithelial and endothelial layers and helps focus the light on the retina. However, injuries to the cornea can cause corneal...

Published: 5/9/2024 | Inventor(s): Jennifer Elisseeff, Qiongyu Guo, Shoumyo Majumdar, Anirudha Singh

Keywords(s): Disease Indication, Eye Disorders, Implanted Device, Implants, Keratoconus, Therapeutic Devices, Therapeutics, Tissue Engineering/Regenerative Devices

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Medical Devices > Regenerative Medicine, Technology Classifications > Medical Devices > Therapeutic Devices, Technology Classifications > Therapeutic Modalities, Technology Classifications > Medical Devices, Clinical and Disease Specializations > Ophthalmology, Clinical and Disease Specializations > Ophthalmology > Keratoconus

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