Promoting the adoption of best practices and standards to enhance quality and reproducibility of stem cell research.

Advancing the use of human stem cell-based models on preclinical and regulatory testing fields requires the performance of rigorous and reproducible research. Quality standards and reporting best practices should be promoted to ensure the reliability and translatability of stem cell models and results. Strategies to increase awareness and implementation of best practices and standards will require training initiatives and collaboration across relevant stakeholders.

The rare-to-common disease journey: a winding road to new therapies.

The study of genetic variants that cause rare diseases has been a central strategy of genetic research for the last century, but the contribution of rare variants to the multifactorial inheritance of common diseases has only recently emerged as an avenue to accelerate functional mapping of the human genome. This perspective defines rare and common diseases, surveys prospects for integrating their study to decipher pathogenic mechanisms, and cites current clinical hurdles of disease translation. We discuss the premise that research into rare disease etiology can inform our understanding of common illnesses and vice versa, identify impediments to progress in translating rare disease findings into common disease treatments, and offer suggestions for realizing the benefits of global health research in the discovery of rare disease variants.

A call to action for deciphering genetic variants in human pluripotent stem cells for cell therapy.

Human pluripotent stem cell (hPSC)-based therapies offer promise but pose potential risks due to culture-acquired genetic variants, some of which have been linked with cancer. An international workshop addressed these concerns, highlighting the need for improved strategies to stratify variants and chart a path toward definitive guidelines in hPSC-based therapy.

Pluripotent cell states and fates in human embryo models.

Pluripotency, the capacity to generate all cells of the body, is a defining property of a transient population of epiblast cells found in pre-, peri- and post-implantation mammalian embryos. As development progresses, the epiblast cells undergo dynamic transitions in pluripotency states, concurrent with the specification of extra-embryonic and embryonic lineages. Recently, stem cell-based models of pre- and post-implantation human embryonic development have been developed using stem cells that capture key properties of the epiblast at different developmental stages.