If we can prove the concept of this technology in the two diseases we’re studying, we can then apply it to hundreds or thousands of diseases of the brain.

TGT-001 corrects genes within the body directly, using the CRISPR gene-editing tool to regulate the expression of PMP22 to normal levels. This treatment is designed to treat CMT1A, which is caused by a duplication of the PMP22 gene.

Normal levels of "Goldilocks" protein in mouse model restores neurologic function in MECP2 duplication syndrome

They have already shown that it is possible to specifically delete the disease-causing genes for different mutations in MFN2 and NEFL

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

SickKids first to remove duplicated gene using CRISPR

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory

Many cognitive neurodevelopmental disorders are a result of too many or too few copies of certain genes or chromosomes. To date, no treatment options exist for this class of disorders. MECP2 duplication syndrome (MDS) is one such disorder that primarily affects boys and results from a duplication spanning the methyl-CpG binding protein 2 (MECP2) locus located on the X chromosome.

The go-ahead for Vertex’s gene editing therapy in sickle cell disease and β-thalassemia is a historic milestone, but this one-time treatment is costly.

U.K. regulators approved a therapy based for two blood disorders based on Crispr gene editing,

Nine out of 10 people who received a new version of a CRISPR-based treatment for a potentially life-threatening inflammatory condition seem to have been cured

rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice

Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome

Increased expression of retinoic acid-induced gene 1 in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression

The much-hyped technology for editing genes has fulfilled one of its biggest promises.

By Sarah Zhang

NEW YORK, NY (July 3, 2023) — Artificial intelligence can predict on- and off-target activity of CRISPR tools that target RNA instead of DNA, according to new research published in Nature Biotechnology.

A new RNA editing tool is opening up new ways to develop novel RNA therapies, speed up engineering of human viruses and test drugs. In a proof of concept experiment, researchers used a cutting enzyme – an endonuclease – and a programmable RNA repair enzyme to modify an RNA virus genome.

The first approval decision for a CRISPR gene therapy in 2023 represents a major milestone, setting expectations for things to come.

In historic decision, FDA approves a CRISPR-based medicine for treatment of sickle cell disease

Developing gene therapies to treat rare and ultra-rare neuromuscular disorders requires a sound understanding of the anatomy of genes and the various methods by which genetic mutations can be targeted. From our antisense oligonucleotide therapeutic for SCA3 in collaboration with Leiden University Medical Center to our gene replacement strategy for ADSSL1 gene-related myopathy with Boston Children’s Hospital, Cure Rare Disease is employing a variety of techniques to treat genetic diseases.

HD is an autosomal dominant neurodegenerative disorder caused by a CAG short tandem repeat (STR) expansion in exon 1 of the huntingtin (HTT) gene1.

Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant mice

An siRNA-loaded protein complex degrades an mRNA template for a protein, silencing a gene.Credit: Alnylam Pharmaceuticals, Inc.

Landmark approval of the first CRISPR therapy paves the way for treatments based on more efficient and more precise genome editors.

Approximately 2% of the world population is affected by intellectual disability (ID). Huge efforts in sequencing and analysis of individual human genomes have identified several genes and genetic/genomic variants associated with ID.

Researchers have unveiled how this process can be modulated using small molecules. The study lays the groundwork for the future identification of potential drugs that act directly on genetic mutations or modifications which alter the process of gene expression,

Researchers in France report the correction of three duplications in the dystrophin gene in cells from Duchenne muscular dystrophy patients, using CRISPR-Cas9 gene editing and a single guide RNA.