Non-human animals having a hexanucleotide repeat expansion in a C9ORF72 locus

US10781453B2 · kind B2 · utility

Assignee

• REGENERON PHARMACEUTICALS, INC. · US

Inventors

• David Heslin · Closter, US
• Roxanne Ally · Saratoga Springs, US
• Chia-Jen Siao · New York, US
• Ka-Man Venus Lai · San Francisco, US
• David M. Valenzuela · Yorktown Heights, US
• Aarti Sharma-Kanning · New York, US
• Daisuke Kajimura · New York, US
• Gustavo Droguett · New City, US
• David Frendewey · New York, US
• Alexander O. Mujica · Elmsford, US

Key dates

• Filing date: Sep 29, 2017
• Grant date: Sep 22, 2020
• Expiry date: Dec 27, 2037

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12N2800/30
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

A non-human animal (e.g., a rodent) model for diseases associated with a C9ORF72 heterologous hexanucleotide repeat expansion sequence is provided, which non-human animal comprises a heterologous hexanucleotide repeat (GGGGCC) in an endogenous C9ORF72 locus. A non-human animal disclosed herein comprising a heterologous hexanucleotide repeat expansion sequence comprising at least one instance, e.g., repeat, of a hexanucleotide (GGGGCC) sequence may further exhibit a characteristic and/or phenotype associated with one or more neurodegenerative disorders (e.g., amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD), etc.). Methods of identifying therapeutic candidates that may be used to prevent, delay or treat one or more neurodegenerative (e.g., amyotrophic lateral sclerosis (ALS, also referred to as Lou Gehrig's disease) and frontotemporal dementia (FTD)) are also provided.