Search Results - inherited

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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: 10/28/2024   |   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
Mouse Model for Cerebral Cavernous Malformation, an Inherited Brain Disorder
Cerebral Cavernous Malformation (CCM) is a brain disease affecting up to 0.5% of the worldwide population. CCM is characterized by grossly dilated vessels prone to leaking and hemorrhage which result in severe headaches, seizures, and strokes. Inherited forms of the disease are due to mutations in one of three loci, CCM1, CCM2, and CCM3. Prior efforts...
Published: 10/28/2024   |   Inventor(s): YoSuke Mukoyama, Ulrich Siebenlist (Estate)
Keywords(s): brain, Cavernous Cerebral Malformation, CCM, CEREBRAL, Conditional, Cre, cre-lox, Floxed, Human, IDXXXX, Inherited, IXXXXX, Mouse, mouse model, RXXXXX
Category(s): Collaboration Sought > Licensing, Collaboration Sought > Materials Available, Application > Research Materials, Application > Diagnostics, Application > Therapeutics