I was recording a new BioChat (you should subscribe) recently with a professor at Harvard. We discussed gene therapy in passing for the disease he was studying, and one of the things that he brought up was the need to ensure that whatever therapy is designed has to be safe and effective. This of course is the promise and also the challenge of CRISPR-based research, in which the model is known but the targeting efficiency isn't where it needs to be in order to be of practical use in therapeutics. This is a big reason why the biomedical research world was abuzz with the recent announcement (and preprint) of a major discovery by scientists at the Broad Institute, where they characterized the mechanisms and the potential utility of a system similar to CRISPR in eukaryotes.
December is a month of holidays and celebration, but it is also a time to raise awareness for a global epidemic that has lasted over four decades. During World HIV/AIDS Awareness Month, health organizations, including the United States Department of Veteran Affairs, serve to remind everyone about the importance of getting tested, to remember those who succumbed to the disease, and to improve access to advanced therapies.
Since its first identification and description in 1981, medical advances have offered effective therapies to keep the virus at bay, and in some cases even completely cure a patient of the human immunodeficiency virus, or HIV, and to prevent it from becoming the acquired immunodeficiency syndrome, or AIDS, which is often catastrophic to the patient. Unfortunately, as of 2021 per the World Health Organization (WHO), there are still over 38 million people living with HIV, with approximately 1.5 million new infections and 650,000 HIV-related deaths. Much of this has to do with lack of education or proper infrastructure and often obstacles to accessibility for treatment and prevention. I hope to explore HIV with you during this month of awareness so we can do our part to mitigate this persistent epidemic.
Since I’ve been living with it for as long as I can recall, I don’t consider my visual impairment a disability. Unlike the millions of people who require corrective lenses, though, my impairment is much more permanent and far less manageable, but it hasn’t prevented me from enjoying life and participating in physical activities. I thought I’d take this time to talk a bit more about most genetic disorders that affect vision, and what is being done to achieve a better understanding to try to reverse the vision loss.
Towards the end of my doctoral research, I first heard the rumblings of an acronym termed “CRISPR” that was starting to gather momentum. By the time I earned my doctorate, the applications that were discussed in both theory and in practice accelerated to the point that, while I didn’t fully understand the mechanism of the factors involved, I was certain that the discovery and re-engineering of this prokaryotic phenomenon would eventually be recognized with a Nobel Prize. Less than a decade after their first publications on the topic, 1, 2 Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry “for the development of a method for genome editing,” which sounds a lot less important than it actually is!