As a researcher supported by the American taxpayers, I think of my work as a social contract. It's a contract between me and the American people where the public investment yields tangible health benefits for the very citizens who made the research possible.
I'm a biologist at Johns Hopkins University, where NIH support has allowed my lab to develop groundbreaking treatments for genetic disorders.
We develop these treatments for genetic disorders by selectively increasing the expression of genes associated with the diseases.
My team just has developed a new way to treat a variety of rare genetic diseases marked by too low levels of cellular proteins. This work could pave the way for therapies for diseases in which one copy of a person's genes is missing or altered. This work could someday help people suffering from rare forms of cancer, as well as immune system and neurodegenerative disorders.
My team's approach targets specific features of messenger RNA to enhance their expression within the body. We have successfully increased the expression of genes linked to autism spectrum disorders—such as SYNGAP1, MECP2, PURA, and CTNNB1—in human cell cultures and animal models. We stand on the brink of medical breakthroughs—we are so close.
This research addresses a fundamental challenge in treating genetic disorders. Instead of attempting to correct individual mutations, which would be impractical due to the vast diversity of mutations among patients, our approach focuses on enhancing the expression of the remaining functional gene. This strategy has the potential to benefit numerous patients, regardless of their specific genetic variant.
The disorders we have targeted are called haploinsufficiency. These can be associated with developmental delays and occur when a single functional gene copy fails to produce sufficient protein levels. With more than 300 identified human haploinsufficiencies and likely many more yet to be characterized, more research into these conditions is critical for the hundreds of thousands of people affected.
We have compelling evidence that this work will lead to clinical testing and eventual therapies that could one day benefit countless American families affected by these disorders.
But not without NIH support.
Federal support underpins the entire spectrum of scientific research, from basic discoveries to medications for our families. Without this long-term investment in understanding fundamental biological mechanisms, groundbreaking therapeutic innovations like those happening in my laboratory would not be feasible.
I am deeply grateful for the opportunity to dedicate my career and life to developing lifesaving therapies for American citizens. And to uphold my side of the social contract.
I can only hope the public investment side of the contract will be equally strong.
Jeff Coller is the Bloomberg Distinguished Professor of RNA Biology and Therapeutics at Johns Hopkins University and inaugural director of the university's RNA Innovation Center.
Posted in Health, Science+Technology
