National Human Genome Research Institute (NHGRI)

When Human Genome Project researchers announced that they had successfully completed sequencing the human genome, it was only about 92% complete. There were still hundreds of gaps or missing DNA sequences. Why was it so difficult to complete the sequence? Researchers cannot read all 3 billion base pairs from end to end. First, they determine the sequence of random pieces of DNA. Then, they use those smaller sequences to put the whole genome sequence back together. It is a massive puzzle! Like all great puzzles, they take time. Parts of our DNA are also painfully repetitive. Some sections of the human genome sequence are so long and repetitive that it can be difficult for researchers to put it in the right place. Thankfully, researchers have been developing a new technology called long-read sequencing that helps to read longer, more difficult stretches of DNA. During the Human Genome Project, researchers could only read 500 bases at a time. Now, they can read over 100,000! Researchers needed those new sequencing technologies in order to finish the last, extremely difficult 8% of the human genome. It took twice as long to sequence the last 8% of the human genome as it did the first 92%! Researchers have been developing this technology for decades. The complete human genome sequence could provide new insight into missing heritability and human disease. Want to learn more about this epic puzzle and the work to finish it? Check out our infographic on finishing the human genome sequence! https://lnkd.in/eBZPJwP

The NIH-funded Genetic Counseling Training Program will temporarily pause admissions to plan new initiatives to develop leaders in the genetic counseling field. NIH will take this time to conduct strategic planning and reshape training for genetic counselors. All current and recently admitted students will be supported through the entirety of their program.   The genetic counseling community and other interested individuals are encouraged to provide input that will help NIH staff develop the new initiative in genetic counseling.     Learn more about this decision here: https://lnkd.in/ecQCwx6h

How do genomic variants affect our health? Genomic variants influence the risk for specific diseases. In some cases, inherited diseases can be traced to variants in a single gene. An example of this is cystic fibrosis, a disease caused by variants (or mutations) in the CFTR gene. Diseases that result from the risk conferred by several genomic variants, typically in conjunction with environmental factors, are called complex or polygenic diseases. An example of one of these is coronary artery disease. People with this disease are believed to often have 60+ of risk-conferring variants taht are spread across the genome. I encourage you to learn more about genomic variants and their influence on human health: http://genome.gov/prs.  

If you also want to feel mindful and demure this week, we recommend taking the time to fold our tRNA paper model! tRNAs are folded into a distinct L-shape that allows them to carry out their key role in protein synthesis. So demure. You can find step-by-step instructions and printable folding paper here! https://lnkd.in/ecEhs3jh

Using tools like artificial intelligence (AI) offers great promise for advancing genomics research – such as helping to interpret large genomic datasets or even help diagnose a patient with a genetic disorder. But researchers are finding that AI still needs significant improvements for routine use in genomics and healthcare.     In a new study published in the American Journal of Human Genetics, NHGRI researchers tested large language models like ChatGPT to answer patient questions and suggest a diagnosis. They found that while artificial intelligence (AI) tools can make accurate diagnoses using textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing health summaries written by the patients themselves.    Researchers hope that AI tools eventually expand access to genomic-based diagnoses. This study highlights the need for studies that use more diverse types of training data to improve the AI tools, making them more robust for clinical applications. I encourage you to learn more about these researchers’ findings! https://lnkd.in/emD7yyRc

Chromosomes are thread-like structures inside the nucleus of animal and plant cells! Each chromosome is made of protein and a single molecule of DNA. That DNA contains instructions that make each living creature unique! It’s yet another reason why you are so special. 🥰 Learn more about chromosomes in our fact sheet! https://lnkd.in/e2YhSY8y

NHGRI researchers tested large language models like ChatGPT to answer patient questions and suggest a diagnosis. They found that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health. Researchers hope these tools can expand access to genetic information in the future. This study highlights the need for more diverse training data to improve these AI tools before they can be useful for clinical applications. Learn more about their findings in the American Journal of Human Genetics: https://lnkd.in/d9dXjv53

They are not an unlikely duo, but rather a perfect, complementary pair! DNA and RNA are very similar, but they have unique biological roles. RNA and DNA are both a type of molecule called a nucleic acid, but their structures are different in subtle ways.    DNA stores genetic information to help your body develop and function. Towards that same goal, your cells use RNA for a number of tasks, including copying that genetic information to make important proteins for your body.    Learn more about the differences between these two in our fact sheet! https://lnkd.in/eS-8AKPh

Last month, the science-focused magazine Undark published an article about how one person’s DNA was used to generate the majority of the human genome sequence produced by the Human Genome Project. Through an institutional research collaboration agreement, NHGRI provided science journalist Ashley Smart, Ph.D., access to the institute’s History of Genomics Archive.     By reviewing over a hundred emails, letters, and digital documents from NHGRI’s archive, Dr. Smart revisited how roughly 70 percent of the Human Genome Project’s human genome sequence came from one donor. I encourage you to read the article here: https://lnkd.in/e5_nKaAZ.  

NHGRI has selected Robert Rivers, Ph.D., as the new director of the institute’s Training, Diversity and Health Equity (TiDHE) Office! In this role, Dr. Rivers will lead extramural training programs to create a more diverse genomics workforce. Dr. Rivers has worked at NIH for almost 15 years, most recently at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), where he was a program director and later the acting director in the Office of Minority Health Research Coordination. Learn more about Dr. Rivers and his new role! https://lnkd.in/e-mruysF