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Infographic

Infographic: Completing the human genome sequence

An infographic that explains why it was so difficult to fully complete the human genome sequence.

… Why was it so difficult to fully complete the human genome sequence? The Human Genome Project ended in … had not yet determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% of the sequence at that time. Why did they stop there? A …

FAQ

Pediatric mitochondrial disease and COVID-19 FAQ

Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.

… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often …

Policy Issues

Participating in Genomics Research

Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.

… Participating in genomics research is an opportunity to support scientific exploration of the genome and to help NIH in its mission to understand, … understand, prevent, detect and treat disease. … Human Subjects Research, Genetics Research, Clinical Trials, …

News Release

Genomics' daunting challenge: Identifying variants that matter

Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.

… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … on disease because there are millions of variants in the human genome, and most are rare and do not have a big impact … Biesecker, M.D., co-author and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. "The peer review …

News Release

NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases

NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.

… Mjoseth … Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The findings, published in Nature today, … Director, Francis S. Collins, M.D., Ph.D., in the Medical Genomics and Metabolic Genetics Branch at the National Human …