Search Results
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… A. Chapman, M.D., Ph.D. 3:10 - 3:30 p.m. Systemic AAV gene therapy for propionic acidemia (PA) Randy Chandler, Ph.D. … David S. Rosenblatt, M.D. 10:30 - 10:45 a.m. High-Dose B12 Therapy for cblC Deficiency Irini Manoli, M.D., Ph.D. 10:45 - … p.m. Treatment of CBS Deficient Mice by AAV-Mediated Gene Therapy Warren Kruger, Ph.D. 2:30 - 3:00 p.m. Break Session …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… by developing a massively parallel single-cell mRNA profiling method. Center-developed technologies will be … Chicago Chemical modifications on mammalian messenger RNA (mRNA) have recently been shown to play critical and diverse regulatory roles in mRNA metabolism and translation. For example, the most …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… increase in carbon 13 propionate oxidation after gene, mRNA or genome editing therapies,” Venditti said. “This way, …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… kinds of RNA. The major type, called messenger RNA (mRNA), plays a vital role in making proteins. In this process: mRNA is transcribed from genes; then the mRNA transcripts are delivered to ribosomes , the molecular …
For Teachers
Tools and resources for teaching the concepts of transcription and translation, two key steps in gene expression
… of a gene sequence. This copy, called a messenger RNA (mRNA) molecule, leaves the cell nucleus and enters the … process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein … the cell cytoplasm, the ribosome reads the sequence of the mRNA in groups of three bases to assemble the protein. Here …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… are available for licensing, including candidate gene therapy-based therapeutics, mouse models of genetic disorders … Ph.D. (NHGRI) Office of Technology Transfer Abstract Gene Therapy for Niemann-Pick Disease Type C (NPC) DHHS Reference …
News Release
Researchers funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific expertise.
… modifications, a common type of modification on mRNA molecules. While pseudouridine modifications have the potential to change the structure and function of the mRNA molecule, the exact effects of the modifications are … has helped the researchers detect new sites on human mRNA containing pseudouridine modifications and define sites …
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.
… below. In mRNAs, the pieces of sequence left in the mature mRNA are known as exons , and these sequences contain the … genome. … RNA can make proteins Messenger RNA, called mRNA for short, is the type of RNA responsible for carrying … machines made of RNA and protein. The ribosomes “read” the mRNA sequence three nucleotides, or a codon , at a time to …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.