Search Results
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long … epilepsy, confusion and dementia. The pain can last for hours, can be paroxysmal (occurring only at certain …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… Benin in Nigeria before immigrating to the United States for further studies. He started his education in the United … Dr. Rotimi was the director of the National Human Genome Center at Howard University. Dr. Rotimi came to the NIH in … into the role of culture, lifestyle and genomics in disease etiology, health disparities and variable drug …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences (NCATS), both … Gaucher disease were an important genetic risk factor for developing the more common disorder Parkinson's disease. …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… create a resource that researchers can use to study how inherited changes in genes lead to common diseases. It will … bank that can be used by many researchers around the world for future studies. GTEx researchers are studying genes in … and medical information to the GTEx project makes possible research that will help improve our understanding of …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
…  and Nature . While Science's  Breakthrough of the Year for 2017  is the cosmic merger of two neutron stars, the … bonanza." Truly outstanding genomic accomplishments for 2017 - now let's see what 2018 brings us! All the best, … The NIH Intramural Sequencing Center  (NISC) sits on the top floor of a research building …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… he oversaw the work of the largest supporter of biomedical research in the world, from basic to clinical research. Dr. Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human … their large arteries. Using the mouse model as a resource for screening potential therapies, the Collins laboratory …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute, …
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).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way … effects. Genes (units of heredity) carry the instructions for making proteins, which direct the activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: Learning …
Research at NHGRI
NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease.
… The National Human Genome Research Institute (NHGRI) conducts a broad program of laboratory and clinical research to translate genomics into a greater understanding of human biology and develop better methods for the detection, prevention and treatment of heritable and …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 … Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that causes low levels of, or no, alpha-1 … breathing difficult. Everyone has two copies of the gene for AAT and receives one copy of the gene from each parent. …