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Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
Policy Issues
NHGRI has created the IDE Greenhouse as an educational resource to help increase understanding of the regulation in the genomics context.
… The U.S. Food and Drug Administration (FDA) Investigational Device Exemption (IDE) regulation ( 21 CFR Part 812 ) oversees clinical research involving “investigational” medical devices. FDA considers next-generation sequencing (NGS) and other …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… Today, the U.S. Food and Drug Administration (FDA) approved two gene therapies for the treatment of sickle … (NHLBI) … Additional Resources … NIH statement on new FDA-approved gene therapies for sickle cell disease … The …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… … Media Availability: NIH research leads to first FDA-approved treatment for progeria … The U.S. Food and Drug …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… ( Code of Federal Regulations, Title 45, Part 46 ). This regulation establishes rights and protections for …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
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.
… RNAs. While many lncRNAs are thought to have roles in gene regulation, their exact functions remain unknown, and this is … proteins. A few lncRNAs have well-defined roles in gene regulation, such as one lncRNA called Xist . In cells with … researchers understand the functions of genes and gene regulation. … RNA modifications are changes that happen to …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… promoters are now widely accepted as a mechanism of gene regulation. However in 2007, the basic set of genes with this … in PNAS ). One of the most intriguing components of gene regulation is the epigenetic code, which influences gene … samples to identify genomic loci that undergo aberrant regulation. Her work has identified genomic regions whose …
Policy Issues
This glossary contains definitions for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and Legislative Database.
… for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and … in chronological order). The text of the original law or regulation is collated with any subsequent amendments … to or deletions from the language of the original law or regulation), to provide the most up-to-date text of the law …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… and the proteins that cells produce based on such regulation. To do this, scientists will examine part of the … Ph.D. To gauge the influence of genetic variation on gene regulation and expression in different cells and tissues, … to examine certain areas in the genome and gauge gene regulation within tissue samples from various ethnic groups. …