STAT

Opinion: Genetic testing plus IVF can sidestep genetic disease and reduce the need for high-priced therapies

An embryologist works on a Petri dish at a fertility clinic in London. Source: Sang Tan/AP

Spinal muscular atrophy type 1 (SMA) begins when a parent notices that her infant can’t lift his head, a key milestone in early development. It ends with the silent passing of a toddler, his body lacking the neuromuscular function to live. This deadly disease affects almost 400 newborns in the United States each year, and approximately 13,000 per year globally. It arises because of a single defective gene. There is no cure.

In 2016, the FDA approved the called nusinersen (Spinraza). It works by using a small strand of RNA to patch up a less functional for the first year followed by $375,000 for subsequent years, can extend the lives of children by several years. While the long-term outlook for children with spinal muscular atrophy remains bleak, more families can experience the joy of their child’s first steps.

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