Search Results - disorders

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Longer-lived Mouse Models for Studying Gaucher Disease

The invention is a novel longer-lived mouse model for Gaucher disease. Gaucher disease is a genetic disorder that results from deficiencies in the enzyme glucocerebrosidase (GBA). The use of animal models to study how the disease progresses has been invaluable in research of this disorder. However, existing mouse models have been limited due to early...

Published: 7/25/2024 | Inventor(s): Mary Lamarca, Edward Ginns

Keywords(s): ANIMAL, DISORDERS, Gaucher, Gaucher Disease, Human, IDXXXX, Inherited, Models, RXXXXX, TRANSGENIC, VHXXXX, VPXXXX, WIXXXX, WJXXXX, WKXXXX, WMXXXX, XEXXXX

Category(s): Application > Research Materials, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental, TherapeuticArea > Infectious Disease, Application > Consumer Products, Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology

High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders

Cobalamin C deficiency (cblC), caused by mutations in MMACHC, is the most common inborn error of intracellular vitamin B12 metabolism. NHGRI scientist have generated a number of Mmachc knockout mouse models. The cblC mice present with early lethality, recapitulate the neurological phenotype seen in patients, and have enabled proof of concept testing...

Published: 7/25/2024 | Inventor(s): Jennifer Sloan, Eirini (Irini) Manoli, Charles Venditti

Keywords(s): C, Cobalamin, Combination, Concentration, DEFICIENCY, DISORDERS, High, Hydroxocobalamin, Me/OH-Cbl, Me-Cbl, Methyl-, Methylcobalamin, RELATED, treatment, VPXXXX, WKXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental

A Group of Compounds that Activate AMP-activated protein kinase (AMPK) that may Treat Niemann-Pick Disease Type C (NPC)

This technology relates to the identification and use of a group of compounds that activate the AMP-activated protein kinase (AMPK) and also effectively reduce lysosomal cholesterol accumulation in patients with Niemann-Pick disease Type C (NPC). Clinical trials are currently underway to determine the efficacy of beta-cyclodextrin in treating patients...

Published: 7/25/2024 | Inventor(s): Zachery Caffall, Joseph Rittiner, Nicole Calakos

Keywords(s): AMPK, C, Compositions, Disease, DISORDERS, Dystonia, Identifying, Methods, MODULATORS, Niemann, Pick, TREATING, treatment, TYPE, VEXXXX, WIXXXX, WKXXXX, XEXXXX

Category(s): TherapeuticArea > Neurology, Application > Therapeutics, Application > Research Materials

A Novel Therapeutic Vector for Hemoglobin Disorders

Investigators at the National Heart, Lung, and Blood Institute have designed a novel lentiviral vector as a potential gene therapy for sickle cell anemia and beta-thalassemia. The novel lentiviral vector encodes the beta-globin gene in a forward orientation and can produce 5-10 fold higher viral titer and 4-10 fold higher gene transfer efficiency to...

Published: 7/25/2024 | Inventor(s): John Tisdale, Naoya Uchida

Keywords(s): Development, DISORDERS, Forward-oriented, Generation, hemoglobin, Listed LPM Maddox as of 4/15/2015, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, therapeutic, Therpeutic, Vector, VPXXXX, WJXXXX, XEXXXX, YAXXXX, YBXXXX, YCXXXX

Category(s): Collaboration Sought > Collaboration, Application > Therapeutics, TherapeuticArea > Endocrinology, TherapeuticArea > Dental, TherapeuticArea > Ophthalmology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Oncology

Signatures of Genetic Control in Digestive and Liver Disorders

Our technology describes unique genetic signatures in patients with digestive diseases and liver disorders. Using comprehensive analysis of 735 microRNAs and 19,000 mRNAs, we have identified a unique set of microRNAs and/or mRNAs which predict disease phenotypes in patients with digestive and liver disorders. The identification of such point-of- care...

Published: 7/25/2024 | Inventor(s): Ralph Peace, Nicolaas Fourie, Sarah Abey, Wendy Henderson

Keywords(s): Acid, Altered, CAXXXX, CXXXXX, Digestive, DISORDERS, Expressions, IA3XXX, IAXXXX, IB3XXX, IBXXXX, Identification, IXXXXX, Listed LPM Vepa as of 4/15/2015, liver, MESSENGER, MICRO, miRNA, PHENOTYPE, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Ribonucleic, RNA, Species, THERAPY

Category(s): Collaboration Sought > Licensing, TherapeuticArea > Immunology, Application > Diagnostics, Application > Research Materials, Application > Therapeutics, TherapeuticArea > Oncology

Novel Tocopherol and Tocopheryl Quinone Derivatives as Therapeutics for Lysosomal Storage Disorders

Novel tocopherol derivatives and tocopheryl quinone derivatives useful in the decrease of lysosomal substrate accumulation, the restoration of normal lysosomal size, and the treatment of lysosomal storage disorders (LSDs) are provided. The inventors have discovered that tocopherol and tocopheryl quinone derivatives with side chain modifications (such...

Published: 7/25/2024 | Inventor(s): Jingbo Xiao, Wei Zheng, John McKew, Juan Marugan

Keywords(s): ANALOGUES, Correctors, DISORDERS, IB6XXX, IBXXXX, IXXXXX, Lysosomal, Storage, Tocopherol

Category(s): Collaboration Sought > Collaboration, Application > Vaccines, Application > Therapeutics, TherapeuticArea > Reproductive Health, Application > Diagnostics, Application > Research Materials

Therapeutic Approach to Neurodegenerative Disorders Using a TFP5-Peptide

This invention discloses methods for treating neurodegenerative diseases by administering cyclin dependent kinase 5 (Cdk5) inhibitory peptides derived from P35, the activator of Cdk5. Abnormally hyperactive Cdk5 has been shown to be associated with a variety of neurodegenerative disorders. Disclosed in this invention are isolated peptide fragments,...

Published: 7/25/2024 | Inventor(s): Harish (Estate of) Pant

Keywords(s): Approach, DISORDERS, NB1BXX, NB1FXX, NB1XXX, NBXXXX, NEURODEGENERATIVE, NXXXXX, TFP5-peptide, therapeutic

Category(s): Collaboration Sought > Collaboration, Application > Therapeutics, TherapeuticArea > Neurology