Our Progress

% Genes Observed

Human Genome Project for Proteins

Millions of molecular proteins are swimming through our body’s cells and many studies have discovered that these proteins are the main drivers of all human diseases. Scientists are now mapping proteins the way the Human Genome Project mapped genes. As president and co-founder of the Consortium for Top-Down Proteomics, Northwestern’s Neil Kelleher is at the forefront of the Human Proteoform Project. In the podcast below, he explains how this ambitious initiative could lead to more targeted and effective diagnostics and treatments for diseases.

Mapping the entire human proteome

Just as the Human Genome Project started as a whisper among 20 scientists in Utah in 1988, and by 2002 they had sequenced the entire genome, the Consortium for Top-Down Proteomics, co-founded by Neil Kelleher, has begun an analogous effort, the Human Proteoform Project & Atlas. The goal of this ambition initiative is to map the entire human proteome, an effort that will require technical leaps over the next decade.

Understanding disease 

While genes are the blueprint to disease, studying the proteome – the actual protein variants present in the body – reveals an even tighter correlation to complex diseases.

Top-down proteomics

Northwestern Proteomics is leading the development of an advanced analysis method called top-down proteomics. Whereas “bottom-up” leaves major knowledge gaps, top-down proteomics, a protein analysis method that relies on mass spectrometry, examines intact proteoforms with complete molecular specificity.

The Human Proteoform Atlas

Despite decades of research focused on characterizing human proteoforms, propelled by  advances in top-down proteomics that enable us to directly sequence proteoforms, there currently exists no  reference set of human proteoforms that maps known proteoforms and their corresponding cell and tissue types.

To answer this unmet need, a large-scale effort has been launched to construct the first Human Proteoform Atlas, a resource linking experimentally identified proteoforms to human cells, tissues, and disease.

The Human Proteoform Atlas (HPfA), was built on behalf of the Consortium for Top-Down Proteomics to house all proteoform information from all biological domains in one central location using an open-source framework. 

The technology behind top-down proteomics

Northwestern Proteomics experts develop innovative technologies for complex mixture analysis using Fourier-Transform Mass Spectrometry for targeted applications in proteomics and metabolomics.