Stephan Züchner, MD, PhD, on the Future of Gene Therapy and Diagnostic Screening


The professor for human genetics and neurology at the University of Miami Miller School of Medicine discussed the rapidly changing landscape of diagnosing and treating genetic disorders.

“The last decade has brought so many genetic discoveries. Ten years ago, we just barely started talking about multigene panels for diagnostics—only 10 years ago! Ten years is not a very long time by many measures, so that is fast, I’d say. Ten years ago, we did not really seriously talk about genetic therapies. We were still in this phase where we were kind of very scared [that] bad things could happen. And only in 2017, the very first genetic therapy in United States was FDA approved—for an eye disorder—and then everything came from there... So, I think things are moving fast and I think they actually will accelerate.”

Although newborn screening for genetic disorders is already an established practice, it is typically only used to diagnose and treat particularly severe diseases that appear within the first 10 years of life. However, with many gene therapies currently in development for a wide range of genetic disorders, some experts are discussing the possibility of expanding newborn screening to include additional diseases.

Stephan Züchner, MD, PhD, a professor for human genetics and neurology at the University of Miami Miller School of Medicine, presented in a session entitled “Large-Scale Data Approaches to Neuromuscular Disease Research” at the Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held in Dallas, Texas, March 19-22, 2023.

In an interview with CGTLive™’s sister publication, NeurologyLive®, Züchner spoke the current state of diagnosis and treatment for genetic disorders, the rapid changes that have occurred in the past 10 years with regard to genetic medicines, and possible future developments that are on the horizon. In particular, he discussed the prospect of expanding newborn screening to diagnose and treat more mild diseases that appear later in life, before symptoms even occur. He noted that this shift is not likely to occur in the near-term future, but that the availability of more gene therapies over time could make it a desirable approach in the longer-term.

Züchner also discussed several diseases, such as some amyotrophic lateral sclerosis molecular subtypes and axonal peripheral neuropathies, for which the underlying genetic factors, if any exist, are not well understood in all cases. He emphasized that this is an important area for further research.

Read more coverage of the 2023 MDA Conference here.

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