Pathogenic variants in the GJB2 gene are the most common genetic cause of congenital sensorineural hearing loss and are mostly associated with an autosomal recessive non-syndromic deafness 1A (DFNB1A).
Previous research has demonstrated that activin receptor-like kinase 7 (ALK7) signaling suppresses lipolysis, resulting in increased adipocyte size and lipid content. Additionally, predicted loss of function variants in the ALK7 gene (ACVR1C) have been associated with reduced waist-to-hip ratio (WHR) adjusted for body mass index, protection from type 2 diabetes, as well as reduced risk of cardiovascular disease.
Life-threatening arrhythmias are a major consequence of reduced cardiac sodium current with limited treatment options available. A recent study published in the European Heart Journal by researchers from Amsterdam University Medical Centers and collaborators explored a novel gene therapy approach to enhance the cardiac sodium current and prevent arrhythmias.
The new gene therapy aims to address the root cause of prion disease by using the CHARM epigenetic editing platform from the Whitehead Institute to target and silence the gene that codes for the disease-causing protein.
Avirmax Biopharma Inc. has begun IND-enabling studies of ABI-201, a gene therapy for dry age-related macular degeneration (AMD). ABI-201 is an AAV vector that delivers three genes to correct the dysregulation of complement activation, to protect retinal pigment epithelia and photoreceptors, as well as to block retinal neovascularization.
Researchers from Tikkunlev Therapeutics Inc. and the University of Utah have presented preclinical data on TLT-101, a gene therapy consisting of an adeno-associated virus serotype 9 (AAV9) vector encoding cardiac bridging integrator 1 (cBIN1) designed for the treatment of heart failure.
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder caused by homozygous or compound heterozygous loss-of-function mutations in the SUMF1 gene, which encodes formylglycine generating enzyme (FGE), which catalyzes the post-translational modification of all known 17 sulfatases.
Voyager Therapeutics Inc. has announced its decision to assess alternate payloads related to its gene therapy program for superoxide dismutase 1 (SOD1) amyotrophic lateral sclerosis (ALS). Emerging preclinical data indicate the siRNA payload component of VY-9323 does not meet its standards due to what appears to be an off-target effect resulting in a narrowed therapeutic window.
Arbor Biotechnologies Inc.’s ABO-101 has been awarded orphan drug and rare pediatric disease designations by the FDA for the treatment of primary hyperoxaluria type 1 (PH1).
Entos Pharmaceuticals Inc. has been awarded a $4 million grant by California Institute for Regenerative Medicine (CIRM) to support the completion of IND-enabling activities with ENTLEP-001, a durable genetic medicine for the treatment of congenital generalized lipodystrophy.
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