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Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. … Huntington's Disease, Genetic Disease, … disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during middle …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … need to learn more about how genes are controlled and how variants in these "controlling" regions of the genome are …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … will let researchers correct the SCD mutation by removing and replacing it with a normal gene, while the second …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… a portfolio of grants focused on functional genomics and computational genomics and data science. He is also part … works towards systematic understanding of the effects of genomic variation on genome function and phenotype. Prior to … biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, Encyclopedia of DNA Elements, …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… data for the presence of possible actionable secondary variants. Any secondary variants found in the research data will be clinically … confirmed. The SGFS will coordinate confirmatory samples and provide genetic counseling and results disclosure to …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… two classes: those that are associated with a single gene and those that are influenced by multiple genes and … making each of us unique. These differences, called genomic variants, occur at specific locations within the DNA. DNA is …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… is helping us understand what makes each of us different and what makes us the same. … Did you know that at the … Project, researchers began developing tools to detect genomic differences between people. When scientists agreed to … today, researchers are still discovering new types of variants  within human genomes. Human genomic variation is …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient … However, it is difficult to identify which sequence variants are relevant to disease. As a result, information on only a few genomic variants is used in clinical practice. One factor …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… Secondary Genomic Finding … A secondary genomic finding refers to a … the chance to identify a previously unrecognized risk for disease that could change the medical management of that patient and potentially prevent or more effectively treat the …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … Autosomal dominant polycystic …