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.

New single-step genome editing techniques that enable the insertion, inversion or deletion of long DNA sequences at specified genome positions have been demonstrated in bacteria. The advance opens the door to the development of programmable methods for rearranging DNA, using recombinase enzymes guided by RNA. The two different approaches to using insertion sequences (IS) – some of the simplest and most compact mobile genetic elements – are described in two papers published in Nature and Nature Communications.

Scientists at Recode Therapeutics Inc. have developed an optimized lipid nanoparticle (LNP) to act on specific tissues.

Variants in several subunits of the Mediator protein complex are responsible for MEDopathies, which present variable clinical manifestations and modes of inheritance. Researchers from Université de Paris Cité have investigated the role of MED16, a subunit of the evolutionary-conserved Mediator complex, in MEDopathies.

At the ESHG meeting in Berlin, a novel causative gene for Perrault syndrome was presented by a researcher from the University of Manchester. Perrault syndrome is a rare autosomal recessive disease characterized by sensorineural hearing loss and primary ovarian insufficiency.