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Last Posted: May 30, 2024
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Evolution of Gene Therapy for Inborn Errors of Immunity

From the article: "Inborn errors of immunity comprise more than 500 monogenic defects that predispose affected individuals to life-threatening infections, autoimmunity, and lymphoproliferation. The diagnosis and treatment of inborn errors of immunity have significantly evolved in the past few decades. Currently, a hematopoietic stem cell transplant (HSCT) is the definitive treatment of many IEIs. However, an HSCT carries risks, such as graft-vs-host disease and decreased survival rates in the absence of an HLA-matched donor. Gene therapy (GT) offers a promising alternative by targeting and correcting specific genetic mutations. "

mRNA therapy is safe for treating the inherited metabolic condition propionic acidaemia

From the article: "Propionic acidaemia is an inherited metabolic condition caused by a lack of a liver enzyme, which leads to accumulation of toxic compounds. In a first-in-human trial, a therapeutic messenger RNA drug (mRNA-3927) led to restored enzyme activity, was well tolerated and showed a promising dose-dependent reduction of potentially life-threatening clinical events. "

The FDA and Gene Therapy for Duchenne Muscular Dystrophy

From the article: " DMD is the largest human gene and has 79 exons. This large size creates issues for gene therapies, but also opportunities, because shortened forms of dystrophin can have some ability to preserve muscle function, although less than the full-length dystrophin protein. A less severe and clinically variable form of muscular dystrophy, Becker muscular dystrophy, is due to alterations in DMD that result in variable levels of expression (5%-50% of normal) of a shortened form of dystrophin."

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra et al. NPJ Genom Med 2024 3 (1) 23

From the article: "GS has ushered in a new era in the diagnosis of genetic diseases, offering the potential for improved patient care. Now is the time for collective action to overcome challenges, implement best practices, and ensure that the benefits of GS are realized for all individuals affected by genetic diseases. Indeed, widespread and appropriate utilization of GS is critical for directing the emerging gene editing, gene therapy, and cell-based therapies for rare genetic disorders. Concerted policy, education, guideline, and care pathway efforts will drive significant advancements in precision medicine and improve health outcomes for patients with genetic conditions. "

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.