Around 25 million Americans have rare genetic diseases, and many of them struggle with not only a lack of effective treatments, but also a lack of good information about their disease. Clinicians may not know what causes a patient’s symptoms, know how their disease will progress, or even have a clear diagnosis. Researchers have looked to the human genome for answers, and many disease-causing genetic mutations have been identified, but as many as 70 percent of patients still lack a clear genetic explanation.
In a paper published in Molecular Cell on Nov. 7, Whitehead Institute for Biomedical Research member Iain Cheeseman, graduate student Jimmy Ly, and colleagues propose that researchers and clinicians may be able to get more information from patients’ genomes by looking at them in a different way.
The common wisdom is that each gene codes for one protein.
