Human Cell Atlas takes first steps toward understanding early human development

First 250,000 developmental cells sequenced from a range of human tissue

Researchers from the global Human Cell Atlas (HCA) Consortium are taking the first steps toward using powerful single-cell genome analysis tools to understand early human development and how this can affect health or lead to disease. Preliminary projects for the Human Developmental Cell Atlas (HDCA) have sequenced a quarter of a million separate cells so far and the first tranche of data analysis is underway.

The HDCA program will create genomic reference maps of all the cells that are important for human development, which will revolutionize our understanding of health and disease, from miscarriages and children's developmental disorders, through to cancer and aging.

The HDCA is one part of the ambitious Human Cell Atlas, a global consortium that aims to transform biological research and medicine by mapping every cell in the human body. Progress on the HDCA and other aspects of the Human Cell Atlas will be discussed at the international HCA meeting at the Wellcome Genome Campus, Cambridge on March 8th 2018. (Videos of the meeting’s plenary sessions can be found on the HCA YouTube channel.)

Click here to enlarge. (Credit: Wellcome Sanger Trust)

Many diseases have their origin in early human development, and a detailed understanding of development is key to explaining human health and disease. Researchers at the Wellcome Sanger Institute and Newcastle University have collected genomic data from over 250,000 cells from a range of donated developing human tissues including liver, skin, kidney, and placenta. This data will show which genes are switched on in each individual cell, and help explain vital processes in development.

Sarah Teichmann, co-chair of the HCA Organizing Committee and head of cellular genetics at the Wellcome Sanger Institute, said, "Our understanding of human development will be transformed by the HDCA project and could lead to significant advances in biology and medicine. We expect this fundamental research to deliver a wide range of important insights — from a better understanding of why miscarriages and genetic developmental disorders happen, through to understanding childhood cancers that have their root in development and the developmental pathways that cancer cells take advantage of in adults."

Other primary areas of focus for the HDCA include an improved understanding of how blood cells form and how the immune system functions. In addition, further understanding of the processes during human development will shed light on the processes of aging and how tissues repair themselves, which could lead to advances in regenerative medicine.

Muzlifah Haniffa, from Newcastle University, said, "This research is possible due to the Human Developmental Biology Resource, which provides human embryonic and fetal tissues to ethically approved scientific studies such as the HDCA. Funded by Wellcome and the MRC, this well-established tissue bank provides vital materials to enable research into understanding human development to help improve health."

Outside the UK, other HDCA projects are underway and researchers in Sweden are focusing on the development of the brain, lung, and heart, and on first trimester development. Scientists from Karolinska Institute, Stockholm University, KTH Royal Institute of Technology, and Science for Life Laboratory are collaborating to discover how these organs develop in order to understand normal human development and shed light on developmental disorders.

Sten Linnarsson from the Karolinska Institut in Sweden said, "About a third of neurological disorders are developmental in origin, including autism, schizophrenia, and intellectual disability. Developmental heart disorders are the most common complication in newborns, and incomplete lung development is the most common cause of death in extremely premature babies. Learning about how these organs develop will help us make progress on disorders that severely affect large numbers of babies and children."

The March 2018 international HCA community meeting in Hinxton is the first time that members have come together to discuss details of the HDCA. The meeting also features other aspects of the Human Cell Atlas initiative, including updates on progress so far towards atlases of tumour, lung, gut, kidney, and immune system cells.

Aviv Regev, co-chair of the HCA Organizing Committee; a core member, chair of faculty, and director of the Klarman Cell Observatory and Cell Circuits Program at the Broad Institute of MIT and Harvard; an HHMI Investigator; and professor of biology at Massachusetts Institute of Technology, said, "The Human Cell Atlas initiative is growing fast, and with more than 480 scientists now registered with the initiative from 44 countries around the world, it is a truly global collaboration. As we will hear in the opening session, in the 18 months since the initiative planning process was launched, more than 1.5 million cells have been sequenced from various tissues including the immune system and the gut, working towards our ambitious aim of creating an open and accessible reference map of every type of cell in the human body.”