PJ Brooks, PhD, on Improved Newborn Screening, Non-Viral Gene Editing: New Frontiers for Neuromuscular Disease

“I think there's a real opportunity for some major change that could really benefit the whole field, realizing that it's not a trivial thing to do - to change the newborn screening system in the United States that's been around for a long time. But I think it's important to have those discussions because the current newborn screening doesn't fit the therapeutic strategies we have.”

Many challenges face the development of novel therapies for underserved populations with rare diseases, including rarity, biotech support, clinical trial recruitment, and heterogeneity. The National Institutes of Health (NIH) aims to help facilitate rare disease drug development and has several initiatives it is pursuing to this end.

CGTLive® spoke with PJ Brooks, PhD, deputy director, Division of Rare Diseases Research Innovation, National Center for Advancing Translational Science (NCATS), NIH, to learn more about the topics that the NIH and NCATS are focusing that they believe are important to improve accessibility of gene therapies. Brooks emphasized that although much progress has been made in the field of neuromuscular disease with new, novel therapies, there are still many challenges facing novel therapy accessibility in the field and for other rare diseases in which gene therapy development is ongoing.

Important areas of focus that NCATS and NIH ishoning in on include newborn screening and developing more non-viral gene editing strategies.Brooks stressed that current newborn screening strategies do not align with the evolving therapeutics landscape. Some other programs the NIH is working on include the platform vector gene therapies project and the Bespoke Gene Therapy Consortium (BGTC) that aims to develop a platform that can produce bespoke gene therapies for rare diseases.