Protein Form and Function in Disease

Schematic showing the electron density of the herpes-specific protein m48

This schematic shows the electron density of the herpes-specific protein m48, portrayed in yellow, interacting with a ubiquitin protein, depicted in magenta.


Christian Schlieker


Proteins do much of the work inside the human body, supporting the structure, function, regulation, and repair of organs, tissues and cells. Our researchers are conducting multifaceted investigations of the role that specific proteins play in disease. For example, they are studying how signaling proteins help cancer cells avoid immune cells and how protein dysfunction in metabolism may promote diabetes. And, because proteins must fold into intricate three-dimensional shapes to perform their work properly, our researchers are studying how protein misfolding and clumping together can lead to conditions ranging from Alzheimer’s and Parkinson’s diseases to cancer, hypercholesterolemia, and cystic fibrosis. 

Richard Young is one of the world’s leading researchers on how genes are transcribed and proteins created. He is applying the quickly developing field of phase-separated condensates—where cellular proteins form membrane-less droplets that may regulate gene expression—to develop a new paradigm for understanding disease processes and to identify potential therapeutic targets for cancer, Parkinson’s, and other diseases. David Bartel, a pioneer in RNA biology, helps explain how regulatory RNAs influence gene expression and protein production. His continuing discoveries on ways that RNAs can repress genes, change their protein products, and play a role in disease is helping advance the use of the gene-silencing process known as “RNA interference” as a potential treatment strategy for many medical conditions. Jonathan Weissman is globally renowned for research on the cellular machinery necessary for efficient protein folding and on the mechanisms and consequences of misfolding. The new experimental and analytical approaches he develops help drive major advances in research on the underlying causes of a broad range of conditions, from cancer to neurodegenerative diseases.

Ankur Jain discovered that certain RNAs, too, can clump together—and do so in ways that may contribute to conditions such as amyotrophic lateral sclerosis and Huntington’s disease. He is investigating how cells naturally prevent potentially deleterious RNA aggregation and will seek molecules that safely dissolve disease-causing RNA clumps. And Silvia Rouskin investigates how the shape of RNA can regulate gene expression and the production of specific proteins—in particular, how RNA mis-folding may lead to neurodegenerative disease and how multifaceted RNA folding enables the human immunodeficiency virus to function.

Learn more about our work on Protein Form & Function—as well as related research in the realms of Cancer, Genetics & Genomics, Nervous System Development & Function, Development & Regeneration and Cell Dynamics.