Diagnosis of rare, genetic muscle disease improved by new approach WUSTLmedschool jclinicalinvest
may identify a handful of rare genetic variants in each patient with the condition, there's no way to know without painstaking, time-consuming additional experiments which, if any, of those variants is responsible for a patient's symptoms. Unfortunately, no comprehensive catalog exists yet of all the variants of all the genes linked to limb girdle muscular dystrophy, and whether each of those variants can cause disease or is harmless.
Weihl and colleagues at Washington University have taken an important step toward creating a catalog that could help resolve inconclusive diagnoses. For one gene commonly involved in the disease, the researchers created the protein that would be made from that gene's instructions. Then, they made every possible protein variant that could be formed by swapping out one amino acid for another, analyzed the functions of the variants and classified each as harmful or benign.
Resolving variants of unknown significance is particularly beneficial to members of underrepresented groups. Genetic databases are dominated by people of western European background and reflect thefound in that population. People of other backgrounds are more likely to carry genetic variations that have no match in reference databases and thus get the label"variant of unknown significance.
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