The United States of America, as Represented by the Secretary, Department of Health and Human Services

Ucl Business Plc

Francesco Muntoni

Steve Wilton

Haiyan Zhou

Mary Reilly

Beryl Cummings

Monkol Lek

Daniel Macarthur

Veronique Bolduc

Carsten G Bonnemann

A single nucleotide polymorphism (SNP) that results in development of a Type VI collagen, alpha 1 chain-related disorder, and the use of the SNP to identify individuals at risk for developing COL6-related disorders (COL6-RD). Also provided are antisense oligomers for treating individuals at risk for developing COL6-RD, as well as methods for screening compounds for their potential as therapeutic agents.

Diagnosing COL6-related disorders and methods for treating same

The invention relates to an oligonucleotide that supresses the expression of an allele carrying a dominant mutation that causes hereditary sensory neuropathy type I (HSN1), wherein the suppression takes place through hybridisation of said oligonucleotide to the DNA of said allele or to an RNA transcript of said allele, and which either does not suppress the expression of a wild-type allele not containing the dominant mutation or suppresses the expression of said wild-type allele to a lesser extent than it suppresses the expression of the dominant mutant allele; and also pharmaceutical compositions comprising oligonucleotides of the invention and treatments of HSN1 using such oligonucleotides.

Allele-specific gene suppression

Growing community of inventors

London, United Kingdom

Francesco Muntoni