Search Results
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 by … Genetic and Rare Diseases Information Center … The Genetic and Rare Diseases Information Center helps people …
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 … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. …
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. … diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … disease. Copper content of the liver is also measured. Genetic testing is frequently used to help diagnose Wilson …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, including … Genetic Disease Research Branch …
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 growth of numerous … and in all races. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous … found in about 15 percent of individuals who have ADPKD. A genetic test can detect mutations in the PKD1 and PKD2 genes, …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … pathway that plays a major role in several common diseases. Together, their findings may provide new clues to underlying genetic and biochemical influences in the development of …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Genetic Epidemiology … Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology is a field of science focused on the …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions … This list of genetic, orphan and rare diseases is provided for informational purposes only and is … A genetic disorder is a disease caused in whole or in part by a … set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused …