ΔF508 is the most prevalent mutation detected in patients with cystic fibrosis (CF), and it causes a loss of F508 within CFTR’s first nucleotide binding domain (NBD1). Researchers from Sionna Therapeutics Inc. recently reported the discovery and preclinical evaluation of novel small-molecule CFTR NBD1 stabilizers and CFTR assembly correctors as potential new agents for the treatment of CF.
The unprecedented rise in life expectancy has made advances in the understanding of biological hallmarks of aging, at both the molecular and cellular levels, essential. A joint effort between Baylor College of Medicine, Genentech Inc., Stanford University and collaborating institutions has led to the release of the first Aging Fly Cell Atlas (AFCA) as a result of a deep dive analysis of 163 different cell types in Drosophila melanogaster, the common fruit fly.
Primary lymphedema (PL) is a chronic condition that results from abnormal development or functioning of the lymphatic system caused by gene mutations. Researchers from St George's University of London and colleagues reported the identification of novel variants in the ERG gene during their study performed through whole genome analysis of PL cases included in the 100,000 Genomes Project.
New research shows base and prime editing can correct some forms of phenylketonuria (PKU) in mice and human cell lines, raising the prospect that this gene-editing approach could allow children born with the inherited metabolic disorder to have a treatment that would avoid the need for dietary restrictions and medication.
A group of German and French scientists has identified 15 genetic variants in a proteasome protein complex that are related to neurodevelopmental delay and also alter interferon type 1-mediated immune signaling. The finding contributes to the diagnosis of this neurological disorder and gives an opportunity for the development of therapies in patients who have these mutations.
Bietti’s crystalline corneoretinal dystrophy (BCD) is an autosomal recessive inherited disease caused by mutations in the cytochrome P450 (CYP) family 4 subfamily V member 2 (CYP4V2) gene, which encodes a polyunsaturated fatty acid (PUFA) hydroxylase dominantly expressed in retinal pigment epithelium (RPE) cells.
Mutations in the RPGRIP1 gene are associated with rare retinal dystrophies and most commonly with Leber congenital amaurosis (LCA) type 6, which is characterized by vision loss, among other symptoms.
Sialidosis is a lysosomal storage disease caused by mutations in the NEU1 gene, which encodes sialidase neuraminidase 1. These mutations lead to enzyme deficiency and subsequently accumulation of oligosaccharides and sialylated glycopeptides in tissues and body fluids, which in turn lead to cell and organ dysfunction. There are no approved therapies. Three different AAV9 vectors encoding NEU1 were developed and tested by UMass Chan Medical School researchers in the preclinical setting in mice.
NGGT (Suzhou) Biotechnology Co. Ltd. has presented preclinical data on an AAV vector approach that expresses human PAH, rAAV8-PAH, also known as NGGT-002. NGGT-002 has liver tropism and it was codon-optimized for expressing PAH in the liver.
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