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

51 Results

Sort By:

bio-IB3

Unmet NeedAccording to the CDC, approximately 5.8-million individuals aged 65+ in the United States were living with Alzheimer’s disease in 2020 (see CDC). Alzheimer’s disease leads to memory impairment that progressively affects the ability of individuals to conduct daily tasks and worsens with time. Currently, the diagnosis of Alzheimer’s disease...

Published: 3/12/2026 | Inventor(s): Esther Oh, Stina Tucker, David Borchelt, Juan Troncoso

Keywords(s): Alzheimer's Disease, Antibodies, Biologics, CNS and Neurological Disorders, Discovery/Research Tools, Disease Indication, Neurodegeneration, Research Reagent, Therapeutic Matter, Therapeutic Substance, Therapeutics, Translational Research Biomarker

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Geriatrics, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Research Tools > Antibodies, Technology Classifications > Therapeutic Modalities > Antibodies, Technology Classifications > Therapeutic Modalities > Biologics, Clinical and Disease Specializations > Neurology, Technology Classifications > Research Tools, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Neurology > Alzheimer's Disease, Clinical and Disease Specializations > Neurology > Neurodegeneration

Compositions and Methods for Treatment of Eye Diseases

Unmet NeedOxidative stress contributes to the progression of multiple eye disorders, including retinitis pigmentosa, age-related macular degeneration, and diabetic retinopathy. Ocular oxidative stress is caused by an imbalance of antioxidants and pro-oxidants in the eye, leading to elevated levels of free radicals. Free radicals contribute to the damage...

Published: 3/13/2026 | Inventor(s): Peter Campochiaro, Andrea Cook

Keywords(s): Disease Indication, Eye Disorders, Non-novel, Predicted Novelty, Retinitis pigmentosa, Single, Therapeutic Matter, Therapeutics, Therapy Type

Category(s): Clinical and Disease Specializations > Neurology > Neurodegeneration, Clinical and Disease Specializations > Ophthalmology > Retinitis Pigmentosa, Clinical and Disease Specializations > Rare Diseases

System for Enhancing Stem Cell Growth & Development Using Fluid Viscosity to Support Tissue Regeneration and Engraftment

Value Proposition· Preserve bone-forming potential (osteogenic phenotype) in soft tissue environments· Reduces immune rejection by promoting an immunosuppressive macrophage response· Enables preconditioning of stem cells for enhanced engraftment success· Applicable to a wide range of regenerative medicine and tissue engineering therapies· Introduces...

Published: 3/13/2026 | Inventor(s): Konstantinos Konstantopoulos, Alice Amitrano, Qinling Yuan, Bhawana Agarwal, Luo Gu, Jude Phillip, Yoseph Dance, Yi Zuo

Keywords(s):

Category(s): Clinical and Disease Specializations > Immunology, Clinical and Disease Specializations > Musculoskeletal, Clinical and Disease Specializations > Rare Diseases, Clinical and Disease Specializations > Transplantation, Technology Classifications > Therapeutic Modalities, Technology Classifications > Therapeutic Modalities > Stem Cells

Activating Mutations in GNAQ Sensitive to Antibiotic; Novel Molecular Pathway and Treatment Target for Capillary Malformations and Related Syndromes

Value Proposition: · Antibiotic treatment strategy for capillary malformations and Sturge-Weber Syndrome. · Selectively targets endothelial cells with the pathogenic GNAQ mutations using puromycin · Inhibits cell proliferation and reduces cell survival via activation of TRP6/NFAT signaling pathway · Compatible with various drug...

Published: 3/12/2026 | Inventor(s): Anne Comi, Jonathan Pevsner, Zhenhua Huang, Douglas Marchuk

Keywords(s): Biomarker, Disease Indication, Genetic Disorders, Mechanism-of-action Biomarker, Skin Disorders, Sturge-Weber Syndrome, Sturge-Weber Syndrome (SWS), Target, Therapeutic Matter, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Therapeutic Modalities > Targets, Clinical and Disease Specializations > Dermatology, Technology Classifications > Diagnostics, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome

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: 3/13/2026 | 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

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: 3/12/2026 | 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: 3/13/2026 | 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: 3/12/2026 | 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: 3/13/2026 | 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: 3/13/2026 | 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

1 2 3 4 5 6