UF Researcher Works With Bionano Data to Provide Understanding of Repeat Expansion Disorders Causing Muscular Dystrophy and ALS

Bionano Genomics, Inc. announced that teams from the Mayo Clinic and from the University of Florida have separately released results generated with Saphyr relating to Amyotrophic Lateral Sclerosis (ALS) and Myotonic Dystrophy (DM), respectively, two severe genetic disorders caused by the expansion of repetitive sequences in the genome. Saphyr identified repeat expansions in patients with ALS and DM that were so large that only Saphyr is capable of sizing them correctly. These findings help increase understanding of the disease-causing mechanisms and may lead to better diagnostic tests, support direct drug development and facilitate better identification of patients who are likely to respond to treatment.

In a study published in bioRxiv, a team led by Dr. Eric Wang, an assistant professor in the Department of Molecular Genetics and Microbiology at the University of Florida, used Saphyr to identify genomic variants that determine the severity of neurological symptoms caused by DM. These symptoms, caused by abnormal processing of a number of brain-expressed genes, correlate with the length of repeat expansion. The study helped demonstrate that ultra-long DNA analysis technology, such as Bionano’s Saphyr, is crucial to enabling the accurate measurement of these repeat expansions.

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