Arrhythmogenic cardiomyopathy (ACM) is a severe genetic cardiac disorder caused by mutations in some desmosomal genes. The most frequently affected gene in patients with ACM is PKP2, the loss of which provokes desmosomal instability that leads to activation of downstream disease processes ultimately resulting in life-threatening ventricular arrhythmia and heart failure.

Rznomics Inc. has received clinical trial notification (CTN) from Australia’s Therapeutic Goods Administration (TGA) for the initiation of a phase I/IIa trial evaluating RZ-004, a gene therapeutic candidate for autosomal dominant retinitis pigmentosa with rhodopsin mutation.

Epigenetic desilence of the paternal allele of the gene that causes Angelman syndrome (AS) could be used to treat this disease for which there are currently no approved therapies.

Patients with congenital hearing loss could benefit from a gene therapy currently in development. Although there are approaches that could reverse the process in children and young people before it becomes severe, so far, adults do not have any treatment that prevents the progressive deterioration of auditory sensory cells caused by this disease.

Patients with congenital hearing loss could benefit from a gene therapy currently in development. Although there are approaches that could reverse the process in children and young people before it becomes severe, so far, adults do not have any treatment that prevents the progressive deterioration of auditory sensory cells caused by this disease.

A new methodology based on the regulation of genetic enhancers has made it possible to develop a cellular map that reveals new types of helper T cells related to immunological disorders that could be explored for the development of new therapies. “I am very interested in the function of rare T cells, and I am trying to analyze their function by eliminating certain rare T cells with antibodies with ADCC [antibody-dependent cell-mediated cytotoxicity] activity or by disrupting genes that characterize rare T cells in animal models,” senior author Yasuhiro Murakawa told BioWorld.

Cystic fibrosis (CF) is characterized by lack of hydration in the airways by impaired functioning of cystic fibrosis transmembrane conductance regulator (CFTR), leading to infection, inflammation and lung tissue damage. It is hypothesized that inhibiting the epithelial sodium channel (ENaC) in the airways in CF may enhance the mucociliary clearance (MCC) and provide clinical benefit, but numerous inhaled ENaC blockers have failed in clinical trials. Enterprise Therapeutics Ltd. is developing an inhaled ENaC blocker compound, ETD-001, for the treatment of CF.

Alzheimer’s disease (AD) is a neurodegenerative condition in which amyloid plaques and neurofibrillary tangles accumulate in the brain. In addition to genetic factors, DNA damage and epigenetic alterations also play a key role in the pathogenesis and progression of this disease, altering gene expression, the functioning and maintenance of brain cells. DNA double-strand breaks (DSBs) and chromatin accessibility are two hallmarks of AD whose study could reveal new ways of approaching this disease.

Hypochondroplasia (HCH) is a skeletal dysplasia similar to achondroplasia (ACH) but with milder features, that affects particularly the ossification of proximal long bones of arms and legs. Around 70% to 80% of cases of HCH are caused by N540K alterations in the FGFR3 gene. At the recent 6th Annual Achondroplasia & Skeletal Dysplasia Research Conference, researchers from Tyra Biosciences Inc. presented preclinical proof-of-concept data of TYRA-300, an oral FGFR3-selective inhibitor in a model of HCH.