Investigators from Biomarin Pharmaceutical Inc. have presented the first preclinical data for BMN-293, a novel adeno-associated virus (AAV) gene transfer vector carrying the MYBPC3 gene. MYBPC3 mutations can cause hypertrophic cardiomyopathy (HCM), a heart medical condition characterized by an abnormally thick myocardium, which makes it more difficult for the heart to pump blood.
Heterozygous familial hypercholesterolemia (HeFH) is caused by mutations in the LDL receptor gene, resulting in unusually high levels of low-density lipoprotein (LDL-C) in serum. Researchers from Epigenic Therapeutics Co. Ltd. presented the discovery of an epigenetic modulation therapeutic, EPI-001, for HeFH.
Duchenne muscular dystrophy (DMD) is a disorder characterized by progressive degeneration of muscles, resulting in muscle loss, mobility limitations and lately, mortal risk. DMD is caused by mutations in the dystrophin gene (DMD) and about 80% of these are suitable for exon skipping, obtaining a functional dystrophin protein.
Fabry disease is a rare X-linked lysosomal storage disorder where a deficiency in α-galactosidase A (GLA) results in the pathological accumulation of globotriaosylceramide (Gb3 or GL-3) and other glycosphingolipids in vascular endothelial cells, nerve cells, cardiomyocytes and renal cells.
Huntington’s disease (HD) is caused by the CAG trinucleotide repeat expansion in exon 1 of the huntingtin (HTT) gene, leading to polyglutamine-expanded stretch of mutant huntingtin (mHTT) protein. Previous research has demonstrated that knockdown of HTT could represent an effective strategy for the inhibition of the formation of mHTT protein, and a recent study conducted by researchers from Huidagene Therapeutics Co. Ltd. aimed to assess the potential of high-fidelity Cas12Max (hfCas12Max)-based gene editing therapy as a novel treatment for HD.
Bloomsbury Genetic Therapies Ltd. has announced it received orphan drug designations from the FDA and the European Commission for BGT-INAD, an investigational gene therapy for the treatment of infantile neuroaxonal dystrophy (INAD).
Activated phosphoinositide 3-kinase δ syndrome type 1 (APDS1) is a rare disease caused by gain-of-function (GOF) mutations in the PIK3CD gene that presents with combined immunodeficiency due to decreases in IgA, IgG, naive CD4 and naive CD8 cells. Nearly all APDS1 patients suffer from recurrent respiratory tract infections with most presenting with bronchiectasis and chronic viral infections.
The autosomal dominant form of osteopetrosis, referred to as autosomal dominant osteopetrosis type 2 (ADO2), is caused by single allele dominant negative mutations of the CLCN7 gene. In a recent paper, researchers from Sisaf Ltd. detailed the development and preclinical evaluation of novel silicon stabilized hybrid lipid nanoparticles (sshLNPs), SIS-101-ADO, designed to deliver small interfering RNA (siRNA) specific against the human CLCN7 G215R mRNA.
Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases.
Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases. The new Alphamissense tool from the technology company Google Deepmind, available online, will allow scientists to refine diagnoses and design more tailored treatment strategies for patients suffering from pathologies associated with these variants.
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