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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 … Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) - two agencies at the
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 …
Staff
Dr. Suzanne Hart is in the Medical Genetics Branch at the National Human Genome Research Institute.
… her Ph.D. in Human Genetics from the Medical College of Virginia (now called Virginia Commonwealth University) in … uses molecular and biochemical techniques to understand genetic diseases of the teeth, the oral cavity and the kidney. … Dr. …
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 …
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 much of the mineral copper. Over time, the extra copper can lead … Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases
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 the nervous system. … Tay-Sachs disease (TSD) is a fatal …
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 products leading to human disease. … A major focus of … and better understand pathways involved in human genetic diseases and normal development. Model systems, including …
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 cysts in both kidneys. The progressive expansion … National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
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.
… Steven Benowitz … Scientists studying 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 …
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 … factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, … disease in groups and the multifactorial causes of genetic diseases in populations. … Genetic epidemiology is a …