Caption: A new measure of immunity called immune resilience is helping researchers find clues as to why some people remain healthier even in the face of varied inflammatory stressors. Credit: Modified from Shutterstock/Ground Picture Do you feel as if you or perhaps your family members are constantly coming down with illnesses that drag on longer than they should? Or, maybe you’re one of those lucky people who rarely becomes ill and, if you do, recovers faster than others. It’s clear that some people generally are more susceptible to infectious illnesses, while others manage to stay healthier ..read more

Caption: Newly discovered Reelin-COLBOS gene variation may delay or prevent Alzheimer’s disease. Credit: Donny Bliss, NIH Biomedical breakthroughs most often involve slow and steady research in studies involving large numbers of people. But sometimes careful study of even just one truly remarkable person can lead the way to fascinating discoveries with far-reaching implications. An NIH-funded case study published recently in the journal Nature Medicine falls into this far-reaching category [1]. The report highlights the world’s second person known to have an extreme resilience to a rare geneti ..read more

Credit: All of Us Research Program, NIH The NIH’s All of Us Research Program is a historic effort to create an unprecedented research resource that will speed biomedical breakthroughs, transform medicine and advance health equity. To create this resource, we are enrolling at least 1 million people who reflect the diversity of the United States. At the program’s outset, we promised to make research a two-way street by returning health information to our participant partners. We are now delivering on that promise. We are returning personalized health-related DNA reports to participants who choos ..read more

The NIH is committed to building a new era in medicine in which the delivery of health care is tailored specifically to the individual person, not the hypothetical average patient as is now often the case. This new era of “precision medicine” will transform care for many life-threatening diseases, including cancer and chronic kidney disease. But what about non-life-threatening conditions, like the aggravating rash on your skin that just won’t go away? Recently, researchers published a proof-of-principle paper in the journal Science Immunology demonstrating just how precision medicine for infl ..read more

Nearly four years ago, NIH opened national enrollment for the All of Us Research Program. This historic program is building a vital research community within the United States of at least 1 million participant partners from all backgrounds. Its unifying goal is to advance precision medicine, an emerging form of health care tailored specifically to the individual, not the average patient as is now often the case. As part of this historic effort, many participants have offered DNA samples for whole genome sequencing, which provides information about almost all of an individual’s genetic makeup ..read more

Credit: Ernesto del Aguila III, National Human Genome Research Institute, NIH Cataloging and characterizing the thousands of genomic variants—differences in DNA sequences among individuals—across human populations is a foundational component of genomics. Scientists from various disciplinary fields compare the variation that occurs within and between the genomes of individuals and groups. Such efforts include attributing descriptors to population groups, which have historically included the use of social constructs such as race, ethnicity, ancestry, and political geographic location. Like any d ..read more

One of the great mysteries in biology is how we humans ended up with such large, complex brains. In search of clues, researchers have spent years studying the protein-coding genes activated during neurodevelopment. But some answers may also be hiding in non-coding regions of the human genome, where sequences called regulatory elements increase or decrease the activity of genes. A fascinating example involves a type of regulatory element called a human accelerated region (HAR). Although “human” is part of this element’s name, it turns out that the genomes of all vertebrates—not just humans—co ..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

In days mostly gone by, it was fashionable in some circles for people to hand out calling cards to mark their arrival at special social events. This genteel human tradition is now being adapted to the lab to allow certain benign viruses to issue their own high-tech calling cards and mark their arrival at precise locations in the genome. These special locations show where there’s activity involving transcription factors, specialized proteins that switch genes on and off and help determine cell fate. The idea is that myriad, well-placed calling cards can track brain development over time in mic ..read more

Many factors influence our risk of illness from SARS-CoV-2, the coronavirus responsible for COVID-19. That includes being careful to limit our possible exposures to the virus, as well as whether we have acquired immunity from a vaccine or an earlier infection. But once a person is infected, a host of other biological factors, including age and pre-existing medical conditions, will influence one’s risk of becoming severely ill. While earlier studies have tied COVID-19 severity to genetic variations in a person’s antiviral defenses and blood type, we still have a lot to learn about how a person ..read more