18282421. Compositions and Methods for the Treatment of Conditions Associated with Nucleotide Repeat Expansion simplified abstract (The General Hospital Corporation)

Compositions and Methods for the Treatment of Conditions Associated with Nucleotide Repeat Expansion

Organization Name

The General Hospital Corporation

Inventor(s)

Jeannie T. Lee of Boston MA (US)

Hun-goo Lee of Belmont MA (US)

Compositions and Methods for the Treatment of Conditions Associated with Nucleotide Repeat Expansion - A simplified explanation of the abstract

This abstract first appeared for US patent application 18282421 titled 'Compositions and Methods for the Treatment of Conditions Associated with Nucleotide Repeat Expansion

Simplified Explanation

The patent application describes compositions and methods for contracting nucleotide repeat expansion in genes associated with certain conditions by using an inactive Cas9 protein and a guide RNA or a reactivation cocktail of small molecules.

• The compositions and methods target nucleotide repeat expansion in genes like FMR1 in subjects with conditions such as Fragile X syndrome, FXTAS-Parkinsonism, and myotonic dystrophy.
• The use of an inactive Cas9 protein and guide RNA directs the Cas9 to the gene to contract the repeat expansion.
• Alternatively, a reactivation cocktail comprising small molecules can be used to treat the cells and contract the nucleotide repeat expansion.

Potential Applications

The technology can be applied in the treatment of conditions associated with nucleotide repeat expansion, such as Fragile X syndrome, FXTAS-Parkinsonism, and myotonic dystrophy.

Problems Solved

This technology addresses the issue of nucleotide repeat expansion in genes, which is linked to various genetic disorders.

Benefits

The use of an inactive Cas9 protein and guide RNA or a reactivation cocktail of small molecules offers a potential therapeutic approach to contract nucleotide repeat expansion in affected genes.

Potential Commercial Applications

The technology could have commercial applications in the development of treatments for genetic disorders caused by nucleotide repeat expansion.

Possible Prior Art

Prior art may include other methods or compositions for targeting nucleotide repeat expansion in genes, but the specific use of an inactive Cas9 protein and guide RNA or a reactivation cocktail may be novel.

How does this technology compare to existing treatments for nucleotide repeat expansion disorders?

This article does not provide a direct comparison to existing treatments or therapies for conditions related to nucleotide repeat expansion. Further research or clinical trials may be needed to evaluate the efficacy and safety of this approach compared to current treatments.

What are the potential long-term effects of using an inactive Cas9 protein and guide RNA or a reactivation cocktail for treating nucleotide repeat expansion disorders?

The long-term effects of these treatments on cells and overall health are not discussed in detail in this article. Additional studies may be necessary to assess the safety and durability of the effects of these interventions over time.

Original Abstract Submitted

Described herein are compositions and methods that can be used to contract nucleotide repeat expansion (e.g., CGG) in a gene (e.g., FMR1) in cells of subjects having a condition associated with nucleotide repeat expansion, e.g., subjects with Fragile X syndrome (FXS), FXTAS-Parkinsonism, myotonic dystrophy, and other repeat disorders, by treating the cells using an inactive Cas9 protein and a guide RNA that directs the Cas9 to the gene or by treating the cells using a reactivation cocktail comprising small molecules.