Entos Pharmaceuticals Inc. has established a collaboration with the L-CMD Research Foundation with the aim of developing a curative therapy for LMNA-related congenital muscular dystrophy (L-CMD).

Researchers from Xenon Pharmaceuticals Inc. described the preclinical efficacy of XPC-837 in models of Dravet syndrome, a severe developmental and epileptic encephalopathy most commonly caused by de novo loss of function mutations in the SCN1A gene.

Vanda Pharmaceuticals Inc. presented data this week at the annual American Academy of Neurology conference regarding allele-specific antisense oligonucleotides (ASOs) that specifically target the mutant p.A53T allele from the SNCA gene while preserving the expression of the wild-type allele. The mutant allele is associated with increased risk of early-onset Parkinson’s disease (PD) and current ASOs target SNCA regardless of its mutation status.

Chinese researchers have published data regarding phosphatidylserine (PS) derivatives acting as neuroprotective compounds for Alzheimer’s disease (AD) therapy.

A modified version of CRISPR-Cas9 has enabled, for the first time, the efficient integration of a large transgene capable of inactivating entire chromosomes into one of the three copies of chromosome 21 in Down syndrome-derived cells. The goal is to silence the extra copy to limit the gene-dosage imbalance that drives many features of trisomy 21. Researchers at Beth Israel Deaconess Medical Center turned to XIST, the long noncoding RNA responsible for the natural silencing of the X chromosome in females. Using this strategy, they achieved integration efficiencies of 20% to 40% and a partial reduction in the overexpression of chromosome 21 genes.

Researchers from the Government College University Faisalabad reported the discovery and preclinical characterization of IMS-48, a benzimidazole analogue designed to inhibit both acetylcholinesterase (AChE) and butyrylcholinesterase (BChE).

Genes that are switched on or off in the human brain differ between men and women. Moreover, these differences are not uniform. They vary across cortical regions and cell types. Scientists at the National Institute of Mental Health (NIMH) and the National Institute on Aging (NIA) used single-cell sequencing and unveiled distinct gene expression patterns regulated by hormones and sex chromosomes. This detailed map of the brain’s molecular biology shows how women and men switch on and off more than 3,000 brain genes differently and expands the catalogue of X chromosome genes that escape inactivation.