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 … epilepsy, confusion and dementia. The pain can last for hours, can be paroxysmal (occurring only at certain … in families, and in some of these cases it seems to be inherited as an autosomal dominant trait (this means that one …
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 … breathing difficult. Everyone has two copies of the gene for AAT and receives one copy of the gene from each parent. … Alpha-1 antitrypsin deficiency (AATD) can present as lung disease in adults and can be associated with liver disease in …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … uNravel Determinants of disease in Asthma (EXPAND-Asthma) Center Disease Study Site** Tanika Kelly*, Ana Ricardo, Maria … Environment, Diabetes, and Kidney Disease: A Multi-Omics for Health and Disease Study Site Disease Study Site** …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … A referral clinic established at the NIH Clinical Center has evaluated more than 1,700 patients with known or … affected subpopulations. The branch houses the Center for Research on Genomics and Global Health, which advances …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… translation of genomic knowledge into tools and approaches for improving the treatment, prognosis, and prevention of … including factors influencing human history and health, disease susceptibility, and common principles of biology. … … of expertise. In particular, the NIH Clinical Research Center provides an unparalleled infrastructure for supporting …
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 …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … undiagnosed causes of autoinflammatory disease. … Clinical Research …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… disease are helping to increase the quality of life for people who have Crohn's disease. … The symptoms of … Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health Information Online … What is … is the treatment for Crohn's disease? … Is Crohn's disease inherited? … About Crohn's Disease … Crohn's disease is a …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… Jie Zhou is a Data manager and SAS programmer at the Center for Research on Genomics and Global Health (CRGGH). She is a … with Metabolic Syndrome: Implications for Cardiovascular Disease Prevention. CVD Prev Control. 2010 Sep 1;5(3):75-80. …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their … leg ulcers. Participants will be seen at the NIH Clinical Center in Bethesda, Maryland. "We have organized a … risk," said Dr. Koehly. "We want to build the foundation for understanding how families communicate with and provide …