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News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… G. Biesecker, M.D., chief of the Medical Genomics and Metabolic Genetics Branch (MGMGB) at the National Human … and supports research on diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition and …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… Washington, D.C. Mary Jackson Scroggins, Director, The Pathways Project, Washington, D.C. Patty Spears, Research …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… author of the paper and a staff scientist in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … Elaine Remmers, Ph.D., associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …
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.
… of its symptoms rather than as a physiologic or metabolic process. The fatty deposits (lipomas) cause nerve …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… Specifically, Dr. Shchelochkov is interested in a rare metabolic disorder called propionic acidemia, which affects … with Charles Venditti, M.D., Ph.D. , chief of the NHGRI Metabolic Medicine Branch, that used machine learning to find …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… called glucocerebrosidase which breaks down a normal metabolic byproduct stored in the lysosomes (recycling …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… suggest that dogs and humans may have similar biological pathways that give rise to the range of differences in brain …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
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).
… and other physical problems in children who have rare metabolic conditions, or to treat children with certain …
Lesson Plans
The microbiome lesson plans were inspired by lectures and resources on the microbiome offered at the National Human Genome Research Institute’s (NHGRI) Short Course in Genomics.
… NHGRI  Exploring the Microbiome and Its Connection to Metabolic Syndrome Waqar Kazmi, M.A. Biology Department …