Scientists unveiled on Wednesday the first blueprint of human skeletal development, marking significant progress toward the goal of completing a comprehensive biological atlas of every cell type in the body. This advancement is a crucial step in the ongoing Human Cell Atlas project, which aims to better understand human health and improve the diagnosis and treatment of diseases.
Initiated in 2016, the Human Cell Atlas project collaborates with researchers worldwide to map approximately 37 trillion cells in the human body, each with its unique function. The goal is to complete a first draft of the atlas within the next year or two.
Aviv Regev, founding co-chair of the project and executive vice president at Genentech, emphasized the importance of this work. \"First of all, it's our basic human curiosity. We want to know what we're made of. I think humans have always wanted to know what they're made of. And, in fact, biologists have been mapping cells since the 1600s for that reason,\" Regev said. He added, \"The second and very pragmatic reason is that this is essential for us in order to understand and treat disease. Cells are the basic unit of life, and when things go wrong, they go wrong with our cells, first and foremost.\"
The research team successfully mapped skeletal development during the first trimester of pregnancy, detailing all the cells, gene networks, and interactions involved in bone growth. Their findings revealed how cartilage acts as a scaffold for bone development throughout the skeleton, excluding the top of the skull. They also identified the cells critical for skull formation and investigated how genetic mutations might cause premature fusion of soft spots in a newborn's skull, potentially restricting brain growth.
Understanding these cellular mechanisms could lead to diagnostic and therapeutic targets for congenital conditions. Additionally, the study found that certain genes active in early bone cells may be linked to a higher risk of developing hip arthritis in adulthood.
The researchers also presented a detailed atlas of the gastrointestinal tract, from the mouth to the colon, identifying a specific gut cell type that may play a role in inflammation related to conditions like Crohn's disease and ulcerative colitis. Furthermore, they offered an atlas of the developing human thymus, an organ crucial for training immune cells to defend against infections and cancer.
The comprehensive findings were published in Nature and affiliated Nature Portfolio journals. Alexandra-Chloe Villani of Massachusetts General Hospital and the Broad Institute of MIT and Harvard highlighted the project's broader impact, stating, \"While the primary focus has been on mapping the cells of the healthy human body, the project has already contributed valuable insights into diseases such as cancer, COVID-19, cystic fibrosis and diseases affecting the heart, lung and gut, among others.\"
Employing advanced data and analytical tools, including artificial intelligence and machine learning, the Human Cell Atlas project enables researchers to build \"foundation models, like a 'ChatGPT for cells,' which help us annotate new cells or search for a new cell within the tens of millions of profiles,\" explained Sarah Teichmann of the Cambridge Stem Cell Institute. This innovative approach facilitates unexpected connections between cells affected by fibrotic lung diseases and pancreatic tumors.
Muzlifah Haniffa of the Wellcome Sanger Institute and Newcastle University emphasized the significance of understanding human anatomy at the cellular level. \"Fundamentally, these studies tell us how tissues, organs and humans are built,\" she stated. Haniffa added, \"Understanding human development is critical to understand developmental disorders, childhood disorders that have a prenatal onset, as well as diseases that also affect adults, as developmental pathways can re-emerge in later life disease. Practical applications include new diagnostic, clinical management and therapeutic strategies for the clinic.\"
Reference(s):
Scientists announce progress toward ambitious atlas of human cells
cgtn.com
