Researchers from the global Human Cell Atlas (HCA) consortium have reported significant advancements in their quest to better understand human body cells in health and disease, with the publication of over 40 peer-reviewed articles in 'Nature' and other 'Nature Portfolio' journals.
The collection highlights numerous large-scale datasets, artificial intelligence algorithms, and biomedical discoveries from the HCA that are transforming our understanding of the human body. Studies include revelations about the formation of the placenta and skeleton, changes during brain maturation, new states of intestinal and vascular cells, pulmonary responses to COVID-19, and research on how genetic variation affects disease.
The articles in the collection were contributed by researchers worldwide and provide essential tools and examples of how large-scale cellular atlases can be created. Collectively, these studies serve as a proof of principle for the HCA's bold effort to capture all aspects of human diversity, including genetic, geographic, age, and sex variations.
The HCA is developing and employing experimental and computational methods in single-cell and spatial genomics to create comprehensive reference maps of all human cells (the fundamental units of life) as a basis for understanding human health and diagnosing, monitoring, and treating diseases. To date, over 3,600 HCA members from more than 100 countries have collaborated to profile over 100 million cells from more than 10,000 individuals. Researchers are currently working to assemble a first draft of the Human Cell Atlas, which will eventually grow to include billions of cells across all organs and tissues.
This collection of studies in the Nature Portfolio demonstrates significant advancements in three aspects of the HCA's mission: mapping individual adult tissues or organs; mapping developing human tissues; and developing innovative analytical methods, including those based on artificial intelligence and machine learning. The researchers involved are members of the 18 biological networks of the HCA, each focusing on a specific organ, tissue, or system.
“The Human Cell Atlas is a global initiative that is already transforming our understanding of human health. By creating a comprehensive reference map of the healthy human body (a kind of 'Google Maps' for cellular biology), it establishes a benchmark for detecting and understanding the changes underlying health and disease,” stated Professor Sarah Teichmann, founding co-chair of the Human Cell Atlas, currently at the Cambridge Stem Cell Institute (UK).
“This new level of knowledge about specific genes, mechanisms, and cell types within tissues is laying the groundwork for more accurate diagnostics, innovative drug discoveries, and advanced approaches to regenerative medicine,” she noted.
Several studies in the collection offer detailed analyses of specific tissues and organs, revealing important new biological discoveries for understanding diseases. For instance, a cellular atlas of the human intestine from healthy and diseased tissue identified a type of intestinal cell that may be involved in intestinal inflammation, providing a valuable resource for investigating and ultimately treating conditions like ulcerative colitis and Crohn's disease.
The new collection of articles also includes new maps of human tissues during development. Among them is the first map of human skeletal development, which reveals how the skeleton forms, sheds light on the origins of arthritis, and identifies cells involved in skeletal diseases.
An additional study describes a multi-omic atlas of the first trimester placenta, which includes information about the genetic programs controlling how the placenta develops and functions to provide nutrients and protection to the embryo. These and other developmental biology studies in the collection enhance our fundamental understanding of healthy development over time and space, providing models and resources for creating therapies, as many diseases have their origins in human development.