Dimethylfumarate (DMF) is largely used for treating multiple sclerosis (MS), but about 61% of DMF-treated patients develop lymphopenia, with its consequent associated risks. Biomarkers for monitoring treatment efficacy with DMF in patients with MS would be helpful in this field.

Researchers from Bern University Hospital and University of Bern presented data from a case study that identified the presence of anti-neurochondrin antibodies as a potential biomarker of primary autoimmune cerebellar ataxia (PACA).

Selenophosphate synthetase 1 (SEPHS1) plays an essential role in the metabolism of selenium and has ATPase activity that synthesizes selenophosphate from ATP and selenide. Researchers have hypothesized the potential involvement of SEPHS1 in genetic disorders. They presented a series of case reports involving 9 individuals with heterozygous missense variants in the SEPHS1 gene; all these variants resided in the C-terminal domain or near the AIR synthase-related domain of the gene.

Inhibition of emerging polyclonal on-target acquired resistance mutations remains a critical unmet need in the treatment of fibroblast growth factor receptor 2 (FGFR2)-driven tumors. In the current study, researchers from Tyra Biosciences Inc. presented the preclinical characterization of a novel FGFR1/2/3 inhibitor, TYRA-200, being developed for the treatment of cancer.

Modern molecular techniques have progressed to the point where sequencing can seem almost quaint. At the Basic Science Symposium of The Liver Meeting 2022, new techniques were on full display, with sessions devoted to epigenetics, microbiome analysis and spatial transcriptomics. But the first session was still on genetic variants in all their forms – rare variants, common variants and non-germline mutations.