Sanger Institute scientist helps unveil blueprint for extraordinary Human Cell Atlas

A collection of maps of the human body will act as an open resource to aid medical research and help diagnose disease.

It is, by any standards, an ambitious undertaking.

But an international consortium of scientists, co-chaired by Sarah Teichmann of the Wellcome Trust Sanger Institute in Hinxton, have marked a key stage in the creation of the first Human Cell Atlas (HCA).

A comprehensive collection of reference maps of the human body, the atlas is designed to enable a deeper understanding of human health, helping us to diagnose, monitor and treat disease.

By cataloguing the fundamental units of life, their proportions, locations and interactions to create an open resource for researchers, the consortium behind the HCA believe they will impact every aspect of biology and medicine.

The atlas will prompt major discoveries and help usher in the new era of precision medicine, they suggest.

Dr Teichmann, head of cellular genetics at the Sanger Institute, a director of research in the Department of Physics at the University of Cambridge, and a senior research fellow of Churchill College, Cambridge, said: “The data that will be collected for the atlas, when complete, will provide an entry point for deeper study of cells’ functions and interactions, both within their home tissues and more broadly throughout the body.

“Such knowledge will, over time, have a transformative effect on the scientific understanding of human biology and on human health.”

The HCA was launched in 2016, as the Cambridge Independent reported, with a goal that has been compared in its ambition to the Human Genome Project, which sequenced and mapped all our genes. A year on, the project team has released its blueprint for the project.

It states that for the first draft of the atlas, the consortium will study and map between 30 and 100 million cells from several organs and tissues.

The researchers have also revealed that the gene expression profiles from the first one million immune cells towards this initial milestone, collected under the HCA from bone marrow and cord blood from healthy human donors, will be available in a public online resource by early November.

The long-term goal of the group – led by an organising committee of 27 scientists from 10 countries – is to profile an astonishing 10 billion cells covering all tissues, organs and systems.

This will feature healthy tissues as well as those affected by diseases and conditions.

Aviv Regev, director of the Klarman Cell Observatory and Cell Circuits Program at the Broad Institute of MIT and Harvard, said: “Over the past year, the international scientific community, from physicians to computer scientists, has engaged in an open process to plan how to go about making this revolutionary atlas. Together, we’ve drawn the blueprint. Now it’s time to start building the house.”

The scientists will use a suite of genomic techniques known as ‘massively-parallel single-cell RNA sequencing’, related technologies to characterise other molecules and spatial methods to map cell locations and interactions.

An overview in a white paper from the HCA Consortium, co-authored by Dr Teichmann, explains: “For the past 150 years scientists have classified cells by their structures, functions, locations, and, more recently, molecular profiles, but the characterization of cell types and states has remained surprisingly limited.

“We do not yet comprehensively know our cells — how they are defined by their molecular products, how they vary across tissues, systems, and organs, and how they influence health and disease.

“This has limited our ability to study fundamental domains in biology – such as physiology, developmental biology and anatomy – in health and disease, and to translate our knowledge to accelerate diagnosis and treatment of disease.

“But an extraordinary opportunity is emerging because of transformative advances in experimental and computational methods.”

It says the atlas will “fully represent the world’s diversity” and that there is a commitment to it being an “open resource”.

In a commentary in the journal Nature, Dr Teichmann and colleagues explain how the atlas could have a huge impact on medicine.

They say it will allow doctors to “compare healthy reference cells to diseased ones in the relevant tissues — and so facilitate the development of better drugs and more accurate predictions of unintended toxicity”.

They added: “The atlas could also aid regenerative medicine — the process of replacing, engineering or regenerating human cells, tissues or organs to establish normal function.

“Key diagnostic tests, such as the complete blood count — a routine blood screen that provides crude counts of white blood cells, red blood cells and so on — would become vastly more informative if cell types and states could be identified with much finer granularity. Such information could, for example, help to diagnose blood cancer, autoimmunity or infection before clinical symptoms appear.”

The work is being funded by a range of organisations, including the Wellcome Trust, the US National Institutes of Health, the Chan-Zuckerberg Initiative and others.

You can learn more at https://www.humancellatlas.org.

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