Recent scientific advances in the field of genome editing, which enables precise modifications to DNA, have greatly increased the potential to treat genetic diseases. Despite revolutionary progress in this area, treatment options remain limited. Several scientific challenges must be addressed before gene editing can be widely used in the clinic. For example, gene editing tools may cut in unintended areas in addition to the target site, and more research is necessary to understand how these errors affect patients. Another key challenge is that many organs remain difficult to reach with gene th ..read more

Caption: More than 10,000 rare diseases affect nearly 400 million people across the globe. Credit: Christina Loccke, Lindsey Bergstrom and Sarah Theos Most public health challenges may seem obvious. The COVID-19 pandemic, for example, swept the globe and in some way touched the lives of everyone. But not all public health challenges are as readily apparent. Rare diseases are a case in point. While individually each disease is rare, collectively rare diseases are common: More than 10,000 rare diseases affect nearly 400 million people worldwide. In the United States, the prevalence of rare disea ..read more

Happy holidays to one and all! As you may have heard, this is my last holiday season as the Director of the National Institutes of Health (NIH)—a post that I’ve held for the past 12 years and four months under three U.S. Presidents. And, wow, it really does seem like only yesterday that I started this blog! At the blog’s outset, I said my goal was to “highlight new discoveries in biology and medicine that I think are game changers, noteworthy, or just plain cool.” More than 1,100 posts, 10 million unique visitors, and 13.7 million views later, I hope you’ll agree that goal has been achie ..read more

About 20,000 people in the U.S. live with hemophilia A. It’s a rare X-linked genetic disorder that affects predominantly males and causes their blood to clot poorly when healing wounds. For some, routine daily activities can turn into painful medical emergencies to stop internal bleeding, all because of changes in a single gene that disables an essential clotting protein. Now, results of an early-stage clinical trial, published recently in the New England Journal of Medicine, demonstrate that gene therapy is within reach to produce the essential clotting factor in people with hemophilia A. Th ..read more

Rare diseases aren’t so rare. Collectively, up to 30 million Americans, many of them children, are born with one of the approximately 7,000 known rare diseases. Most of these millions of people also share a common genetic feature: their diseases are caused by an alteration in a single gene. Many of these alterations could theoretically be targeted with therapies designed to correct or replace the faulty gene. But there have been significant obstacles in realizing this dream. The science of gene therapy has been making real progress, but pursuing promising approaches all the way to clinical tr ..read more

Amid all the progress toward ending the COVID-19 pandemic, it’s worth remembering that researchers here and around the world continue to make important advances in tackling many other serious health conditions. As an inspiring NIH-supported example, I’d like to share an advance on the use of gene therapy for treating genetic diseases that progressively degenerate muscle, such as Duchenne muscular dystrophy (DMD). As published recently in the journal Cell, researchers have developed a promising approach to deliver therapeutic genes and gene editing tools to muscle more efficiently, thus requir ..read more

Caption: A cross section from the retina of a non-human primate shows evidence of the production of a glowing green protein, made from genes the virus delivered —proof that the genetic cargo entered all layers of the outer retina. Cell nuclei are labeled in blue and the laminin protein is labeled in red. Credit: Leah Byrne, University of California, Berkeley Scientists based at Berkeley have engineered a virus that can carry healthy genes through the jelly-like substance in the eye to reach the cells that make up the retina—the back of the eye that detects light. Current gene therapy techniq ..read more

  Credit: Brendan Lee and Zhechao Ruan, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX   Our joints are pretty amazing marvels of engineering, but they don’t last forever. As we age, or if we suffer certain injuries, the smooth, slippery white cartilage covering the ends of our bones begins to fray and degrade. This causes osteoarthritis (OA), or ‘wear-and-tear’ arthritis. As the cartilage thins and disappears, the bones can even grow spurs that grate against each other, causing swelling and pain. It’s a major cause of disability, and there’s cu ..read more

I enjoyed delivering the keynote address at the ninth-annual Hope on the Hill Congressional Dinner, hosted by Cure Spinal Muscular Atrophy (SMA). This group of hereditary neurodegenerative disorders destroys neurons in the spinal cord, leading to progressively debilitating muscle wasting. The dinner brings together SMA families, government officials, and industry leaders to celebrate progress towards curing these conditions. While at the dinner, I got to say hello to young Evelyn Villareal. Evelyn, who was born with SMA, is a gene therapy success story and an inspiration to us all. Hope on the ..read more

Caption: Neurons (red) converted from glial cells using a new NeuroD1-based gene therapy in mice. Credit: Chen Laboratory, Penn State, University Park It’s a race against time when someone suffers a stroke caused by a blockage of a blood vessel supplying the brain. Unless clot-busting treatment is given within a few hours after symptoms appear, vast numbers of the brain’s neurons die, often leading to paralysis or other disabilities. It would be great to have a way to replace those lost neurons. Thanks to gene therapy, some encouraging strides are now being made. In a recent study in M ..read more