A Just Genomics Needs an ELSI of Translation.

The rapid advances in genomics over the last decade have come to fruition amid intense public discussions of justice in medicine and health care. While much emphasis has been placed on increasing diversity in genomics research participation, an overly narrow focus on recruitment eschews recognition of the disparities in health care that will ultimately shape access to the benefits of genomic medicine. In this essay, we suggest that achieving a just genomics, both now and in the future, requires an explicit ELSI of translation-normative and pragmatic scholarship that embraces the interconnectedness of research and clinical care and centers the obligations of researchers, institutions, and funders to mitigate inequities throughout the translational pipeline.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.

Age, sex, and cell type-resolved hypothalamic gene expression across the pubertal transition in mice.

Background: The hypothalamus plays a central role in regulating puberty. However, our knowledge of the postnatal gene regulatory networks that control the pubertal transition in males and females is incomplete. Here, we investigate the age-, sex- and cell-type-specific gene regulation in the hypothalamus across the pubertal transition.

Early Intervention services in the era of genomic medicine: setting a research agenda.

Newborn genomic sequencing (NBSeq) has the potential to substantially improve early detection of rare genetic conditions, allowing for pre-symptomatic treatment to optimize outcomes. Expanding conceptions of the clinical utility of NBSeq include earlier access to behavioral early intervention to support the acquisition of core motor, cognitive, communication, and adaptive skills during critical windows in early development. However, important questions remain about equitable access to early intervention programs for the growing number of infants identified with a genetic condition via NBSeq.