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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take … medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can … pressure as an adult. Learning about the health history of your family and sharing this information with your health …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people … with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 … in a single gene. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted … genes and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the Human Genome Project (HGP) was to develop new, better …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … … Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess … changes that increase a person's likelihood of developing diseases. The results of these tests provide you with …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: … Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on the world's poorest people and are often overlooked by drug … severe health burdens on the world's poorest people. Many of these conditions are infectious diseases that are most …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams providing information and support to … actual diagnosis of a disease or condition. Many genetic diseases are so rare that only a geneticist can provide the …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… Experts at the National Human Genome Research Institute (NHGRI) have assembled answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the emerging science of …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease. … A … genetic variations that contribute to common, complex diseases, such as asthma, cancer, diabetes, heart disease and …