RNA in human disease

We study many different disorders—from muscular dystrophy to cancer—where RNA plays important roles in disease initiation and therapeutic response. For example, two topics of current interest are the consequences of mutations affecting RNA splicing factors in myelodysplastic syndromes and the role of nonsense-mediated decay in facioscapulohumeral muscular dystrophy.

In the long term, we seek to identify new biological phenomena that inform the development of new and improved treatments and therapeutics.

Learn more

RNA processing

One of the most exciting findings of modern biology is that the flow of genetic information within the cell—from DNA to RNA to (commonly) protein—is very complex. For example, a single gene can encode the information necessary to make not just one, but many distinct protein isoforms, through the process of alternative splicing. In an extreme example, the Dscam gene in fruit flies can produce tens of thousands of distinct protein isoforms.

This process of alternative splicing affects almost all human genes. The regulation of alternative splicing thereby enormously increases the complexity of the human genome; conversely, errors in alternative splicing can cause diseases ranging from muscular dystrophies to cancer.

RNA processing other than splicing also contributes to human genome complexity and human disease. For example, RNA quality-control pathways such as nonsense-mediated decay guard against cellular noise. Mutations within this pathway can cause intellectual disability.

Specific diseases

We seek to identify diseases where RNA processing plays important, and previously unrecognized, roles. We are particularly interested in finding molecular phenomena and biological processes that link otherwise unrelated disorders. We study pre-neoplastic diseases, cancers, and inherited genetic disorders, with a current focus on:

Our tools

We use many different technologies in our research, including high-throughput genomics, bioinformatics, statistics, molecular genetics, and biochemistry. A typical experiment might combine next-generation sequencing to identify a molecular phenotype with minigene experiments to test specific biochemical predictions.


We work closely with clinicians and physician-scientists in order to discover new basic science while answering questions of clinical relevance. We are always interested in new collaborations; please don't hesitate to contact us.