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Mouse Model of Hutchinson-Gilford Progeria Syndrome (HGPS) and Vascular Abnormalities (G608G) mutated form of human LNMA) for Therapeutic Development

Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from acceleration of certain aging symptoms, mainly cardiovascular disease that generally leads to death from myocardial infarction and/or stroke. The cause of HGPS has been discovered to be a de novo point mutation in lamin A (LNMA) gene. NHGRI Scientist have generated a transgenic...

Published: 10/28/2024 | Inventor(s): Francis Collins, Maria Eriksson, Renee Varga, Michael Erdos

Keywords(s): Abnormalities, HGPS, Hutchinson-Gilford, Listed LPM Maddox as of 4/15/2015, Model, Mouse, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Progeria, RXXXXX, Syndrome, vascular, VEXXXX, VPXXXX, XEXXXX

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

A Mouse Model of Multiple Endocrine Neoplasia, Type I

The current invention embodies a mouse model which is heterozygous for a null allele at the Men1 locus of murine chromosome 19. Men1 has similar exon-intron organization and amino acid identity compared with its human analog MEN1, which has been implicated in the pathogenesis of multiple endocrine neoplasia, type I (MENI). This mouse model has been...

Published: 8/12/2024 | Inventor(s): Judy Crabtree, Francis Collins

Keywords(s): CC1XXX, CC3XXX, CCXXXX, CXXXXX, endocrine, GB1A3X, GB1AXX, GB1XXX, GB2BXX, GB2XXX, GBXXXX, GCXXXX, GXXXXX, Men1 locus, Model, Mouse, mouse model, MULTIPLE, Multiple endocrine neoplasia, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia, type 2, murine chromosome 19, NEOPLASIA, tumor formation, TYPE, Zollinger-Ellison syndrome

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

Farnesyltransferase Inhibitors for Treatment of Laminopathies, Cellular Aging and Atherosclerosis

Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare progressive childhood disorder characterized by premature aging (progeria). Recently, the gene responsible for HGPS was identified (Eriksson M, et al. Nature 2003), and HGPS joined a group of syndromes — the laminopathies — all of which are caused by various mutations in the lamin A/C gene...

Published: 10/28/2024 | Inventor(s): Francis Collins

Keywords(s): (4)r syndrome, AA5XXX, AAXXXX, AXXXXX, C syndrome, Chromosome 4 ring syndrome, Chromosome 6 ring syndrome, Chromosome 7 ring syndrome, G syndrome, Hutchinson Gilford Syndrome, Hypertelorism with esophageal abnormality and hypospadias, IA1XXX, IAXXXX, IXXXXX, N syndrome, Premature aging, Progeria, Progeria; Hutchinson-Gilford progeria syndrome, R(6) syndrome, R(7) syndrome, Syndrome X, W syndrome, W syndrome; Syndrome W

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