What does gene editing mean for rare disease?

Genetic treatment research has continued to progress quickly since Community magazine covered the topic just one year ago.

In July, for the first time, U.S. scientists repaired a mutated gene inside a human embryo. The gene mutation would have caused a life-threatening condition called hypertrophic cardiomyopathy. (No embryo in the study was implanted.)

This is just one step in a long road to a safe and accessible procedure. The gene-editing method, called CRISPR-Cas9, will still need perfecting before even entering public discourse as a legal choice for future parents—and still requires intense ethical consideration.

Treatments involving CRISPR for blood-related illness are also already coming through the pipelines.

Because many believe this fast-growing area of research—which includes using genetics to treat and prevent disease—has potential to impact the rare disease community, it might be a good time to review how genetics impact you or your loved ones.

Gene editing and gene therapies are especially relevant to diseases linked to a genetic mutation—such as Huntington’s disease (HD), Gaucher disease, PTEN, Phelan-McDermid syndrome and Factor XIII.

To review the basics of how people inherit diseases, check out: “Genetics: Inheritance patterns.”

To find out more about genetics as it relates to rare disease, check out our resource guide.

Read the entire issue on genetics here: Fall Community 2016.

More on Huntington’s disease

HD is a disease that occasionally comes up in conversations surrounding gene editing and genetic therapies. While it is a good example of the kind of hereditary disease that could be edited out of an embryo, treatment of HD could also benefit from CRISPR and gene therapies. In fact, while treatment possibilities are still a long way off, advances were also made in HD genetic research this summer:

Huntington’s Disease Society of America provides significant grants for HD research, as well as an incredible support system for families impacted by HD. Learn more about their work from CEO Louise Vetter.

And check in with their research center to learn about current trials including how to get involved.

You can learn more about living with Huntington’s disease by reading “In Your Words” personal accounts:


Posted in Genetics

Recent articles