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News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… that are common to humans, such as various forms cancers, infections and even diabetes. In addition, a vast number of …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… young children - easily overwhelmed by bacterial infections. A baby born with sickle cell disease inherits a …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
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… several genes. Many forms of cancer appear to result from acquired damage to specific sets of genes, oncogenes, usually … tuberculosis and malaria, the control of many important infections will undoubtedly fall to individual countries or … together, they may account for up to 40% of the work of hospital-based paediatric practice (Scriver, 1995). By far …
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… University of Cincinnati/Cincinnati Children’s Hospital Medical Center …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… inflammation and act as the first line of defense against infections. The researchers then analyzed the genome …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… inherited. Eighty percent of individuals with PCT have an acquired disease that becomes active when factors such as … sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual …