HapSMA Test Can Detect Genetic Changes Impacting Patients With Spinal Muscular Atrophy, Study Finds

SMA News Today (4/18, Maia) reported a study found that “testing patient DNA with advanced methods like HapSMA...can reveal otherwise undetectable genetic changes, such as gene conversion, that affect how severe spinal muscular atrophy (SMA) is.” Researchers developed “a method called HapSMA to examine the SMN gene region in more detail by identifying the specific copies of SMN1 and SMN2 that a patient carries.” In healthy patients, “they found specific DNA changes, or variants, that were unique to SMN1 or SMN2. These variants can be used to track a process called gene conversion, where part of one gene is replaced by part of the other.” Researchers concluded, “Our findings illustrate that both methodological advances and the analysis of patient samples are required to advance our understanding of complex genetic [regions] and address critical clinical challenges.” The study was published in the journal Genome Medicine.