National Human Genome Research Institute (NHGRI)

There has been an increasing loss of biodiversity in the world, with more species becoming extinct than ever before.     While many international treaties are requesting that countries monitor the decline of biodiversity more accurately, it has been difficult for ecologists to measure the impact of these losses on a global scale.    Well, according to a recent study in Current Biology, a major source of biodiversity information already exists – in the air!     It turns out that air-quality monitoring stations that have been set up around the world for decades have LOTS of biodiversity information in the form of environment DNA (or eDNA).    By analyzing the filters from the air-quality monitoring stations, they found eDNA from 180 distinct plants, insects, mammals, fungi, birds, amphibians, and more! The species list includes adorable creatures such as little owls, mischievous badgers, ever-so pointy hedgehogs and chatty songbirds.    Watch my new video where I explain the importance of eDNA for monitoring biodiversity – and why it’s WAY COOL!

Double, double toil and trouble; Fire burn, and cauldron bubble!   To develop the magic potion known as the COVID-19 vaccine, NIH researchers analyzed the sequence of the coronavirus using cutting-edge bioinformatics technology. Analyzing the sequence helped researchers to develop a vaccine that is optimized for the immune system to recognize and attack the coronavirus. By understanding the viral genome, researchers can also update the vaccine for new strains of the virus! Learn more in our spell book (fact sheet) at the link in our stories, and don’t forget to get your booster shot! https://lnkd.in/epSU7S5j

Happy Halloween! It's SCARY how much I love using my power washer... Have fun and stay safe out there tonight! 🎃

Woah! She's right... Learn more about completing the human genome sequence: https://lnkd.in/eBZPJwP

We’re headed to #ASHG24 on November 5-9! We will have poster presentations and talks from our researchers. You can also come to our booth 1025 where you can meet our experts and learn about our research, programs and career and training opportunities! https://lnkd.in/eAa_XYCm

I am starting a new video series called WAY COOL GENOMICS! Join me as I showcase examples where genomics is used in a study that is important, impactful, – and just plain WAY COOL! The first video comes out soon and will be about using genomics to study ‘environment’ DNA (eDNA) – stay tuned for a new video coming out this week and stay cool!

NHGRI researchers and collaborators from H3Africa Consortium and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) have discovered that genomic variants in the APOL1 gene can significantly increase the risk of kidney disease in people from Ghana and Nigeria.   APOL1 is important for the immune system and variants of the gene are linked to increased risk of chronic kidney disease.   These research findings can provide insight into improving the health of patients at risk for and with kidney disease and lead to earlier healthcare interventions. Learn more: https://lnkd.in/exPjDH8r

Uh oh. Don’t let our spooky cat fly away! She will wreak havoc on the town. Please help us calm her down by including diverse populations in your genomics research. Including diverse ancestral data in your studies not only improves healthcare for underrepresented populations, but it also provides genomics insights that can benefit everyone! Learn more: genome.gov/pangenome

One of the initial goals of the Human Genome Project was to develop high-quality genetic maps of each human chromosome. Genetic maps are used by researchers in various ways, including to search for genes that, when mutated, cause human disease.Genetic mapping can provide clues about which chromosome contains a disease gene of interest and exactly where the gene might reside on that chromosome.Researchers have used genetic mapping to implicate specific genes for many rare inherited disorders, including cystic fibrosis and Huntington's disease. Scientists also use genetic maps to identify genes thatmay play a role in more common disorders including heart diseaseI encourage you to learn more about genetic mapping! https://lnkd.in/eYakKi2E

Even though 99.6% of our genome sequences are the same, there are slight differences in each person’s genome. These differences are called genomic variants. Out of the 6 billion letters in our genomes, each of us has around 4 to 5 million genomic variants! These variants could either be unique to us or show up in other people’s genomes as well. Researchers have recently completed a human pangenome reference sequence, representing more global diversity! Human populations from different ancestries have some of their own genomic variants. Researchers have just completed a human pangenome reference sequence, representing more global diversity! Human populations from different ancestries have some of their own genomic variants. Learn more about genomic variants and the #HumanPangenome! https://lnkd.in/emGT9-dW