Gene-Targeted Therapies

About 80% of all rare diseases are caused by mutations in a single gene. Gene-targeted therapies are treatments aimed at editing, replacing or turning off the mutated genes that cause disease. A growing number of gene-targeted therapies have been approved by the U.S. Food and Drug Administration for rare diseases, such as spinal muscular atrophy, Duchenne muscular dystrophy and sickle cell disease.

A big challenge in developing gene-targeted therapies for more rare diseases is lack of commercial interest. Many rare diseases are so uncommon that companies can’t or won’t invest the years of research and millions of dollars needed to develop, test and bring a gene-targeted therapy into clinical trials and ultimately to market. We are changing that.

NCATS develops therapeutic platforms that work across many diseases to address unmet health needs faster. Gene editing and gene therapies use broadly applicable methods that can support the development of treatments for a wide range of rare diseases. Our gene-targeted therapy efforts standardize study designs and manufacturing processes, develop new delivery systems, and streamline navigation of regulatory processes — all to meet the goal of more treatments for all people more quickly.

These efforts are a partnership with other parts of NIH, and some also include partners from the U.S. Food and Drug Administration (FDA), industry and patient organizations. The collaborative approach allows each partner to bring its expertise and other resources, enabling faster progress for more diseases. The teams publicly share what they learn, including key communications with the FDA, to spur efforts led by others.

In just a short period of time, these research activities have produced important outcomes — from a comprehensive guide to preparing investigational new drug (IND) submissions for gene therapies to a gene-editing treatment for a newborn baby with a rare disease.