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Gene Editing

Cutting-edge technologies can repair the underlying mutations that cause Rett syndrome.

How Gene Editing Works

Genes are made up of specific nucleotide bases (A, T, C and G), which encode for amino acids. Every three bases code for a specific amino acid. The MECP2 gene has 1,497 nucleotide bases that code for the 498 amino acids in the MECP2 protein. Alterations in the MECP2 gene range from a single letter to large sections of the gene being deleted or inserted. To learn more about the genetics of Rett syndrome please visit our Genetics Primer.

The CRISPR-Cas system uses two key enzymes to target and repair the mutated portion of genes. The first enzyme is a guide RNA that brings the Cas9 enzyme to the proper location in the genome. The second enzyme, called Cas9, which acts as a pair of molecular scissors that can cut DNA at specific locations so that bits of DNA can then be added or removed.

Gene Editing Programs

RSRT has invested almost $2 million in gene editing. RSRT-driven collaborations, initiatives, and investments have helped to generate all of the following gene editing programs.

Beam Therapeutics

Beam Therapeutics is a leading gene editing biotechnology company whose founders include three of the top scientists in the field: Dr. Keith Joung, MD, PhD, designated as one of the most cited researchers in the world by Thomson Reuters; Dr. David Liu, PhD, named by Nature in 2017 as one of the top 10 researchers in the world; and Dr. Feng Zhang, PhD, one of the pioneers of the CRISPR gene editing field.

Beam is pioneering the use of a CRISPR technology called “base editing” to precisely and permanently correct specific nucleotide point mutations. This technology involves the creation of a single protein that combines the targeting ability of CRISPR with novel enzymes that are able to convert the mutated nucleotide base to the correct base. If successful, base editing therapeutics would be a one-time procedure and would be delivered either via virus (as with gene replacement) or non-viral delivery technology.

This project brings to bear the expertise and resources of a leading gene editing company and an industry approach to research into a potentially novel class of therapeutics for Rett syndrome.

RSRT's Partnership with Beam

  • The DNA editing program at Beam is fully funded by RSRT.
  • Access to RSRT’s biorepository of Rett cell lines further enabled this research.

University of Massachusetts
Medical School

Researchers Dr. Jonathan Watts, PhD, Dr. Erik Sontheimer, PhD, Dr. Scot Wolfe, PhD, and Dr. Anastasia Khvorova, PhD, are among the world’s leaders in knowledge of RNA chemistry. UMASS has played a historic role in this space for years; in 2006 Dr. Craig Mello, PhD, was awarded the Nobel Prize for his work in RNA silencing.

UMASS, and this group in particular, also have expertise in the now universally used DNA editing machinery CRISPR-Cas9. Dr. Sontheimer co-founded and launched one of the very first CRISPR companies, Intellia.

Using CRISPR-Cas9, the scientists are pursuing exonic editing, in which a single therapeutic can correct 97% of all known mutations that cause Rett syndrome.