Protein Replacement

This strategy would allow for protein doses to be titrated to the patient.

Protein replacement is a well established therapeutic strategy although delivering to the brain remains a challenge. An example includes providing insulin for diabetics. Since proteins degrade over time this therapeutic would need to be provided on an ongoing basis.

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What it is

Rather than intervene at the DNA or RNA level, this strategy introduces healthy MECP2 protein to compensate for the mutated one. This strategy is not a one and done, but would need to be administered on an ongoing basis.

Why it matters

Protein replacement is a well established modality which can currently treat cancer, diabetes, autoimmune disorders, blood diseases and many other disorders. Protein replacement for Rett would make it possible to titrate the dose to the individual, allowing just the right amount to improve their symptoms.

Status

The protein replacement program we are funding is leveraging a novel mechanism to traffic the healthy MECP2 protein into the brain with unprecedented efficiency.

Alanna Schepartz, PhD

RSRT is funding Alanna Schepartz, PhD, from UC Berkeley, who has discovered a family of cell-permeant miniature proteins that are non toxic and can deliver their cargo into the nucleus of cells with great efficiency. Importantly, the researchers have shown that the efficiency of transport can be determined with accuracy and precision using a technology called fluorescence correlation spectroscopy. These studies have revealed that these miniature proteins are superior to every known cell-penetrating peptide examined.

The protein that needs to be delivered is fused to the miniature protein and is then shuttled into the brain and into individual cells. This approach has the potential to maximize the amount of protein that can be delivered to a cell and allows the dose to be tailored to the individual patient, allowing just the right amount to improve their symptoms.

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A cure for Rett.
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Rett may be a rare disorder but together we are powerful.