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…
