Rare Disease

Patients with rare diseases are often severely ill, but in many cases standard diagnostic tools are unable to determine the exact genetic cause. As a result, so-called “undiagnosed” patients move from doctor to doctor for years, searching for answers. There are thought to be several thousand rare, or neglected, diseases that affect an estimated 25 million Americans. For a significant portion of these cases, the problem can be traced to mutations in a single gene.

Broad researchers develop and apply genomic approaches and bioinformatic methods to discover disease-causing mutations in neglected disease patients. By identifying the genomic basis of rare diseases, scientists can provide patients with definitive diagnoses. Additionally, they can then study the functions of the key genes that are discovered, and work towards developing effective therapies.

We are seeking philanthropic partners in the following projects:

  • Defining the genomic basis of disease classes, understanding the functions of the key genes that are discovered, and developing novel approaches to therapy.

  • Enabling clinicians to provide rare disease patients with definitive diagnoses.

    News coverage on our research in rare disease