Understanding of Disease is Transformed by the Human Cell Atlas

Over 40 publications from the Human Cell Atlas ( HCA ) consortium have resulted in groundbreaking discoveries about human biology as a result of extensive cell mapping. These studies cover different areas such as mental development, colon infection, and COVID-19 heart responses, while also showcasing the power of AI in understanding mobile mechanisms.

By monitoring over 100 million cell from 10, 000 people, HCA is building a” Google Maps” for body science to change testing, drug discovery, and regenerative medicine. The program emphasizes variety, including underrepresented populations, to maintain a globally inclusive understanding of health and illness.

Essential Information

  • Comprehensive body maps were created by the HCA after profiling 100+ million cells.
  • SCimilarity and other AI-based classification techniques improve body classification in various environments and tissues.
  • Studies examine gut swelling, skeletal development, and uterus formation.

Origin: Wellcome Trust Sanger Institute

Researchers with the global Human Cell Atlas ( HCA ) consortium report significant progress in their quest for a better understanding of the cells of the human body in health and disease, with the publication today ( 20 November ) of a Collection of more than 40 peer-reviewed papers in&nbsp, Nature&nbsp, and other&nbsp, Nature Portfolio journals.

The collection features numerous large-scale sets, artificial knowledge algorithms, and HCA medical discoveries that are already altering how we perceive the human body.

Image showing the individual small intestines. Record: Grace Burgin, Noga Rogel &amp, Moshe Biton, Klarman Cell Observatory, Broad Institute

Studies include revealing how the uterus and skeleton shape, changes during mental development, &nbsp, fresh gut and capillary body states, heart responses to COVID-19, &nbsp, investigating how genetic variance impacts on disease, and many more. &nbsp,

Researchers from all over the world contributed to the papers in the collection. They give concrete examples of how to build large-scale cell atlases. Taken together, these studies provide a proof of principle for the HCA’s bold endeavour to capture all aspects of human diversity, including genetic, geographic, age, and sex. &nbsp,

As a framework for both understanding human health and diagnosing, monitoring, and treating disease, the HCA is developing and applying experimental and computational methods in single-cell and spatial genomics to produce comprehensive reference maps of all human cells—the fundamental units of life.

To date, more than 3, 600 HCA members from over 100 countries have worked together to profile more than 100 million cells from over 10, 000 people. A human cell Atlas, which will eventually include billions of cells across all tissues and organs, is currently being assembled by researchers. &nbsp,

This collection of studies in the Nature Portfolio demonstrates significant advances in three key areas of HCA’s mission: mapping individual human tissues or organs, mapping developing human tissues, and creating novel analytical techniques, including machine learning and artificial intelligence.

The researchers involved are members of the 18 Biological Networks of the HCA, each of which is focused on a particular organ, tissue, or system.

Professor Sarah Teichmann, founding co-Chair of the Human Cell Atlas, now at the Cambridge Stem Cell Institute, said:’ 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, similar to” Google Maps” for cell biology, it establishes a benchmark for identifying and understanding the causes of illness and disease.

This fresh perspective on the tissues ‘ specific genes, mechanisms, and cell types is assisting in the development of more precise diagnostics, novel drug discovery, and more sophisticated regenerative medicine techniques.

Dr. Aviv Regev, founding co-Chair of the HCA, now at Genentech, said:’ This is a pivotal moment for the HCA community, &nbsp, as we move towards achieving the first draft of the Human Cell Atlas.

This set of studies demonstrates the significant advances made from biology to AI since the HCA White Paper’s 2017 publication and provide numerous biological and clinical insights.

This comprehensive, community-driven, globally relevant, and meticulously curated atlas will continue to grow and be made accessible to everyone in order to advance our knowledge of how the human body functions in terms of disease and prevention.

A number of studies in the Collection provide in-depth analysis of particular tissues and organs and uncover novel biological discoveries crucial to understanding diseases. For instance, a gut cell type that may be involved in gut inflammation was discovered in a cell atlas of a human gut from healthy and diseased tissue. [a valuable resource for examining and ultimately treating conditions like ulcerative colitis and Crohn’s disease. &nbsp,

Novel maps of human tissues during development are included in the new collection of papers. These include the first map of human skeletal development, revealing how the skeleton forms]To et al. ], shedding light on the origins of arthritis, and identifying cells involved in skeletal conditions. &nbsp,

A second study describes the first trimester placenta’s multiomic atlas, including information on genetic strategies that influence the placenta’s development and how it works to provide nutrients and protection [ Shu et al. ].

These and other developmental biology researches in the collection advance our fundamental knowledge of how well people develop in both space and time, and they also provide blueprints and resources for developing treatments, since many illnesses have their roots in human development.

Amit et al., in an article that discusses the importance of including samples from historically underrepresented human populations. &nbsp,

Professor Partha Majumder of the&nbsp, John C Martin Centre for Liver Research and Innovation, India, and a member of the HCA Organising Committee member and Co-Chair of the HCA Equity Working Group, said: ‘ a key priority for HCA is to ensure a representation of the vast range of human diversity, genetic, cultural and geographical. The impact of large-scale international scientific collaboration is demonstrated by studies like the Asian Immune Diversity Atlas and the analysis of distinct histopathological differences in COVID-19 samples from Malawi.

Another article demonstrates HCA’s involvement in creating new ethical guidelines for scientists around the world regarding a wide range of genomic science topics. ].

AI is now assisting scientists in getting a deeper and more comprehensive understanding of biology at the cellular level and beyond, just as it has revolutionized humans ‘ ability to process text.

New AI techniques are used in The Collection to better understand and categorize the various cell types and locate them on this enormous map. For example, SCimilarity] Heimberg et al. ] allows researchers to compare single-cell datasets to find comparable cell types in various tissues and settings, similar to how “reverse image search” can find photos.

Other research teams addressed long-standing issues, such as dividing cells into hierarchical groups based on their characteristics, as described by Ergan et al. and Fischer et al. ] &nbsp,

This groundbreaking collection of papers from the international Human Cell Atlas community, according to Dr. Jeremy Farrar, chief scientist at the World Health Organization, highlights the significant progress being made in mapping every single type of human cell and how they change as we get older and get older.

The discoveries have already transformed our understanding of health and disease, opening the door to transformative health benefits that will have a global impact.

Funding: The Collection’s individual studies were supported by more than one hundred different funding sources around the world. The HCA also receives organisational support from the Chan Zuckerberg Initiative, Wellcome, the Klarman Family Foundation, the Helmsley Charitable Trust and others.

About this news about genetics research and cell mapping

Author: Rachael Smith
Source: Wellcome Trust Sanger Institute
Contact: Rachael Smith – Wellcome Trust Sanger Institute
Image: The image is credited to Grace Burgin, Noga Rogel & Moshe Biton, Klarman Cell Observatory, Broad Institute

Original Research: The collection of papers in Nature can be found here.

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