Search Results
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … History Study of Children with Mitochondrial Disease NIH Clinical Center  Acute Infection in Mitochondrial Disease  …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… families 4. Chronic disease polygenic risk scores for clinical implementation in diverse US populations 5. Skeletal … retinal disease with gene editing 7. Validation of a clinical breast cancer risk assessment tool for all ancestries 8. Broader access to clinical genome sequencing benefits diverse individuals with rare …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of … Genomics, Genes, Gene Expression, Human Genome Project … on studying all the DNA of an organism — that is, its genome. Such work includes identifying and characterizing all …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … Center for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National Institutes … in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… Genome … The genome is the entire set of genetic instructions found in a … Genome, Genomics, DNA Sequence, Human Genome Project, Genes … The genome is the entire set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes located in the …
Enhancing the Genomics Workforce
The annual Bettie J. Graham Leadership Award for Enhancing the Genomics Workforce was developed to honor investigators who have made a significant influence on the development of the genomics workforce. The award recognizes efforts that provide and create career development opportunities for researchers from all backgrounds and helping to ensure that researchers have access to resources within their organization.
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Dr. Tifft is a senior clinician at the National Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… whether, and with whom, their post-mortem results of clinical relevance should be shared, and any authorization to … do not have [disorder]. You may learn something about your genome that relates to the health of your relatives. If so, … not to learn about a piece of information that has clinical significance for their child. Researchers should …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Gene, Genome, Genetic Variation, Allele, Founder Effect, Genetic Drift, HapMap, Human Genome Project …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences … of every chromosome, and in the race to sequence the human genome, the Y chromosome got left in the dust. Researchers …  Scientists Sequence Last Piece of The Human Genome: The Y Chromosome Science: ‘Most troublesome …