By RESEARCHconnect Team

In April 2003, a landmark event in the history of genetics research occurred with the completion and publication of the human genome. This was the culmination of a 13-year international collaborative research effort to completely map all the genes of human beings. The aim was to give scientists the ability to understand the genetic factors in human disease and start devising new strategies for their diagnosis, treatment, and prevention. Now, some 15 years later, an equally historic project is underway thanks, in large part, to the vital support of major international funders in the UK, US and elsewhere. That project began in London in October 2016 when a group of world-leading scientists gathered to discuss how to construct a Human Cell Atlas (HCA), a series of maps describing and defining the cellular basis of health and disease. The HCA will build on the work of the human genome and have a similarly profound impact on the future of medicine.

HCA Consortium

The first HCA meeting in London was arranged by the Broad Institute of the Massachusetts Institute of Technology (MIT) and Harvard University, Wellcome Trust Sanger Institute, and Wellcome Trust. Present were such luminaries of the field of single-cell genomics as Stephen Quake of Stanford University and Sten Linnarson of the Karolinska Institute in Stockholm. Other key initial supporters included leading scientists from Japan, the Netherlands, and Israel. Since 2016 the HCA initiative has expanded significantly and it currently has 1,002 contributors in 622 institutes in 53 countries around the world.

Vision for HCA

The international HCA Consortium sees the HCA as a foundation for biological research and medicine, i.e. a comprehensive reference map of all the types and properties of human cells which will help in comprehending and monitoring health and diagnosing and treating disease. It is expected that the project will lead to translational discoveries and applications that will eventually usher in a new era of precision and regenerative medicine. As it progresses the HCA will become the “Google Maps” of medicine, able to focus in great detail on molecular and organisational features of particular organs, tissues, and cells; just as Google Maps can do with cities, towns, and streets. Importantly, when completed it will also be an open resource, thus enabling scientists and researchers globally to more quickly and easily make discoveries and develop new and more effective treatments to combat disease.

Complexity, Funding and Impact

The sheer scale of the challenge of creating the HCA is probably best understood when it is realised that there are approximately 37.2 trillion cells in the human body and around 200 to 300 major cell types. The first draft of the HCA currently being produced will profile 30 million to 100 million cells and this will constitute the basis of a comprehensive atlas of at least 10 billion cells covering all tissues, organs, and systems. The HCA pilot projects already underway are working in a number of areas including the immune system, brain and nervous system, epithelial tissue, cancer, and the developmental cell atlas which is investigating cell types and states present during human development.

Obviously, such a mammoth undertaking as the HCA requires considerable funding and this has come from various public, private and charitable sources. In the UK for instance, the Wellcome Trust has provided £7 million to allow an interdisciplinary team of scientists, based at six different UK research institutions, to collect and analyse millions of human cells in order to acquire information on matters such as how cells communicate with each other and their environment, and how tissues develop and change over time. Speaking about Wellcome’s contribution, Dr Sarah Teichmann, Head of Cellular Genetics at the Wellcome Sanger Institute and co-chair of the Human Cell Atlas Organising Committee, said “…the new funding will bring together scientists from a huge variety of disciplines across the UK to enable the collection of data from millions of cells and drive progress towards this ambitious goal.” Also, the UK Medical Research Council has provided £5.5 million to help researchers carry out single cell gene expression and image analysis in matched developmental and adult tissues.

In the US, the Chan Zuckerberg Initiative, created by Facebook founder, Mark Zuckerberg, has put funding into setting up Seed Networks for the HCA. These are designed to consolidate the growth of the HCA community and facilitate the integration of experimental and computational research so that the pace of progress towards a first draft of several organs can be increased. In a separate but related initiative, the Helmsley Charitable Trust in the US is funding the creation of a Gut Cell Atlas which will concentrate solely on cataloguing the many cell types in the small and large intestines with a view to discovering new treatments for Crohn’s disease and other inflammatory bowel diseases.

When completed, the HCA will probably have an impact on almost every aspect of biology and medicine. The direct view of human biology in vivo it will provide should revolutionise diagnostic techniques and allow new and improved drugs to be developed for diseases such as asthma, Alzheimer’s disease and cancer. The hopes and expectations scientists have for the HCA are well expressed by Dr Michael Dunn, Head of Genetics and Molecular Sciences at Wellcome, who said “…… the knowledge we gain (from the HCA) has the potential to transform our understanding of the human body and some of the most serious diseases of our time.” If the HCA does fulfil its potential then it will indeed be a worthy addition to the list of the greatest medical breakthroughs of all time.

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