Human Phenomics: The next generation atlas to address global healthcare challenges
POSTED BY: 2020,11,09

The 3rd International Symposium of Human Phenomics were held online.

Themed “Phenomics and Human Health”, the 3rd International Symposium of Human Phenomics were held by Fudan University, the Phenomics Academic Subgroup of Biophysical Society of China and International Human Phenome Institutes (Shanghai) from October 24th to 26th, which attracted almost 1,000 audience crossing 10 time zones worldwide. Twenty-four top-notch experts from Germany, UK, Australia, Singapore, Japan, Ghana, USA, Kazakhstan and China gathered online to exchange the latest research results on phenomics, including the methodologies, ethical and technical standards, and the application of data sciences.

Scholars attended the international symposium online

Prof. Li Jin, Academician of the Chinese Academy of Sciences, Co-initiator of International Human Phenome Consortium(IHPC), Executive Vice President of Fudan University and Dean of Shanghai Medical College, Fudan University has been leading the International Human Phenome Project(Phase I) since 2017.


Prof. Li Jin at the 3rd International Symposium of Human Phenomics

Phenotype is the biological trait in a living creature, while phenome is the assembly of these phenotypes and phenomics is the systematic study of various kind of phenome. A phenotype is seen everywhere in our body. It refers to a wide array of observable characteristics from physical characteristics such as the shape of our noses and skin color to metabolic indicators such as cholesterol, lipids, glucose and blood pressure etc.

“Measure what is measurable and make great effort to measure everything. The International Human Phenome Project aims to measure the human body in a precise and systematical manner, from macro to micro levels, from the start to the end of a life cycle, to delve into the deeper relations between phenotype and human health,” said Li Jin.

He believes scientists of this generation now are much more capable to collect and analyze data from the human body than their predecessors did decades ago, as relevant technologies become advanced a lot. With global coordination and worldwide multi-centralized large-scale cohort studies, scientists will be able to discover the connections between genes, environment and phenotypes so that a comprehensive reference atlas for human health and diseases will be drawn finally.

“This atlas that contains up to a hundred thousands of phenotypes will offer future researchers of life sciences a navigation atlas which will make future research work and innovation much more efficient,” said Li Jin.

China is ready to go deep into phenomics research. At the symposium, Prof. Li Jin shared Fudan’s progress in terms of research platform, data collection and analysis, collaborative networks, and substantial research results in recent years.

Research platform

Funded by Shanghai municipal government, Fudan has built the world’s first trans-scope, large-scale and multi-dimensional phenotyping platform at Zhangjiang Campus, which locates in the heart zone of Zhangjiang science city in Pudong District of Shanghai. It enables precise measurements of human phenotypes at both macro and molecular levels. Now the scientists are working on 15 categories, more than 20,000 phenotypes.


Proteomic Lab, Human Phenome Institute, Fudan University

Data collection and analysis

International Human Phenome Institute (Shanghai) has developed a variety of world-class cloud platforms for analyzing and sharing big data of phonemics. An open platform called ‘iPhenome’ is being developed by IHPI for global researchers and scientists to analyze, process and share human phenome data and findings.

Collaborative networks

From 2018, Fudan University initiated two networks with domestic and foreign partners: Human Phenome Consortium of China (HPCC), which consists of over 60 first-class universities, scientific institutions, hospitals and enterprises nationwide, led by 26 academicians from the Chinese Academy of Sciences and Chinese Academy of Engineering; and International Human Phenome Consortium (IHPC) consisting of 21 scientific institutions, led by 10 academicians from 17 countries (US, UK, Germany, Australia, Kazakhstan, Japan, Ghana, etc.).

Research Spotlights

The phenotyping facility at Fudan-Zhangjiang Innovation Center has gathered more than 20,000 phenotypic measurements from hundreds of healthy volunteers who passed the preliminary physical checks. In the past 3 years, over 200 relevant research papers generated from International Human Phenome Project (Phase I) have been published on Nature, Science and other top journals in the field.

For example, researchers at Fudan University found 7 serum metabolic features are associated with incident dementia. They built an integrated phenome prediction model for dementia that boasts accuracy up to 90%, which involves a panel of 5 metabolites including citric acid and glutamic acid together with the factors of age and mental status. With this model, phenotypic biomarkers in human blood can be detected by up to 5 years in advance to diagnose dementia.

In another research paper published on Nature Communication, ‘Non-invasive early detection of cancer four years before conventional diagnosis using a blood test,’ scholars from Fudan proved that Panseer, an innovative technology to position phenotypic biomarkers, could early detect 5 common malignant tumors—colorectal cancer, esophageal cancer, liver cancer, lung cancer and gastric cancer. Through examining cell-free DNA methylation markers in human blood by Panseer, the omens of those cancers in the blood of patients could be caught 4 years early before clinical diagnosis.