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Precision Medicine

Precision Medicine

A selected number of CCG comparative genomic projects are briefly outlined below

 

Exon Skipping for amenable Duchenne muscular dystrophy mutations

We are developing synthetic genetic drugs to modify defective gene expression. In the case of DMD, we can excise the disease-causing part of the gene message and restore functional expression. This work has progressed to Phase2b clinical trials and appears to be slowing disease progression in trial particpants.

 

Exon Inclusion to treat Spinal Muscular Atrophy

SMA is caused by the inactivation of the SMN1 gene and the inability of the SMN2 genes to make a functional gene product. We are exploring ways to restore normal SMN2 gene expression.

 

Transcript regulation to modify inherited diseases

mRNA is a generally labile with a high turnover. In cases where the insufficiency of a gene product leads to disease, one potential therapy would be to extend the mRNA half-life, allowing a greater participation in protein translation. We are exploring ways to increase mRNA stability for some diseases, or where appropriate enhance its degradation in the gene product is disease-causing.

 

Transient transcript alteration to study gene expression

Specific modification of the splicing machinery allows us to generate selected isoforms of a gene transcript/product, or ablate its expression completely. This approach can be used to map the functional domains of any given gene based upon exon domains.

 

Therapeutic alternative splicing to treat inherited disorders

Subtle human gene mutations (missense and/or nonsense) are now being recognized as playing a much greater role in altering alter normal splicing patterns than previously anticipated. As such, we are developing a personalized therapeutic platform for corrective splicing for gene disorders dependent on the gene lesion rather than the gene itself.

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