Search Results
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
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … to better understand the causes and development of these diseases, and to improve the ability of doctors to diagnose … and a Metabolomics Core, as part of the NIH Undiagnosed Diseases Network (UDN). In addition, six new awards fund …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… applicants due to the complex nature of the body and the diseases being investigated. However, they do fully review … level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed … (2) facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, …
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 …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … investigating inherited and non-inherited neurological diseases. Additional Resources for Charcot-Marie-Tooth … Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, blood cells). This genetic material comes in individual units called genes. We … complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. GWAS …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genetic testing is the use of a laboratory test to examine an …