Areas of Research

Creation of a robust natural history of patients with MEF2C related disorder. This includes clinical research assessments and ongoing measures to track patients over time.

There are different types of variants amongst people with MEF2C Related Syndrome. It is important to provide research opportunities to create a better understanding of our patient community. This can be accomplished through the creation of MEF2C patient-derived resources for different types of variants known to exist.

Computational and phenotypic discovery platforms can perform high-throughput and functional screening from a library of compounds, with a focus on FDA approved drugs.

Treatments

MEF2C Activator Therapy

The goal of this research is to identify a compound that over stimulates the expression of MEF2C from the one functioning good copy of the gene.

RNA Editing

To change the instructions carried by a molecule called RNA. RNA is like a messenger that takes information from our genes and helps make proteins. During RNA editing, certain parts of the RNA molecule can be modified, added or removed. This changes the instructions and can affect the final protein that is made.

ASO Therapy

ASOs (antisense-oligonucleotides) are RNA molecules that inhibit protein synthesis. They can be used to target any gene by selecting the correct nucleotide sequence in the target RNA. Our genes contain the instructions to make proteins which are important for our body's functions. Sometimes there are genes that produce proteins that are either harmful or not functioning properly. ASOs can be designed to bind to the genetic material of these specific genes and prevent them from producing harmful proteins.

Gene Replacement

a process that involves replacing a faulty or missing gene with a healthy copy.

Gene Editing

CRISPR a groundbreaking development that scientists use to make changes in DNA, to cut and modify the genetic code. Once CRISPR finds its target, the Cas9 protein cuts the DNA at that specific spot. Either a new piece of DNA can be inserted or modifications can be made to the existing sequence.

Base Editing

Enables precise changes to individual nucleotides within the genome without creating double-strand breaks. This converts one DNA base to another at a specific target site.

Prime Editing

Allows for precise modifications to the DNA sequence, including insertions, deletions and substitutions, without the need for double-strand breaks. It combines the functions of a Cas9 enzyme (nickase) and a reverse transcriptase enzyme, along with a unique RNA molecule called prime editing guide RNA (pegRNA). In prime editing, the Cas9 nickase protein is guided to the target DNA sequence by the pegRNA. Like base editing, the lack of double-strand breaks decreases the risk of off target effects and it improves upon base editing because it allows for more types of substitutions.