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… and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education … in which ACMG has participated since the Food and Drug Administration (FDA) released its 2014 draft guidance …
Clinical Research
The Institutional Review Board (IRB) is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… Sponsors   FDA Investigator-Initiated Investigational New Drug (IND) Applications   Other Organizations Public …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. This … attacks of fever in 75 percent of patients who take the drug regularly, and over 90 percent of patients demonstrate a … every day is very important. If a patient stops taking the drug, an attack can occur within a couple of days. Since the …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… to survive childhood. But today, due to preventive drug treatment, improved medical care and aggressive … antibiotics, pain management and blood transfusions. A new drug treatment, hydroxyurea, which is an anti-tumor drug, appears to stimulate the production of fetal …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… this hypothesis by adding 5-Azacytidine, a chemotherapy drug that disrupts formation of methyl tags, to glioma cells. …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… healthcare system in developing nations for the provision, delivery and management of safe genetic services (CLIA-like …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… studies needed to receive approval from the Food and Drug Administration. Screening and diagnostic tests, however, … about a patient's genetic make-up to better tailor drug therapy to their individual needs. Clearly, genetics …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.