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News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene to a specific point in the cell's DNA. AAVs are small viruses that infect humans but do not cause disease. A … Mir341 that codes for a microRNA molecule. MicroRNAs are small, non-coding RNA molecules involved in the regulation of gene expression. When …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… the pore. Nanopores used in DNA sequencing are extremely small, perhaps only about 2 nanometers wide, and come in … of physical DNA. Microfluidics can be used to capture small amounts of liquid in hair-thin channels and wells. … Akeson, Ph.D. Investigators plan to sequence single DNA molecules by using a nanopore device comprised of a sensor …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… the human genome. Until now, the pieces were too small, and there was no way to put the hardest parts of the … the human genome. Until now, the pieces were too small, and there was no way to put the hardest parts of the … small pieces of DNA, they used a method that leaves DNA molecules largely intact. These large DNA molecules were then …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… dysfunction and create mouse models to test novel small molecules to treat genetic skeletal diseases. They use …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
…   Our team also managed the congressionally mandated small business program referred to by the Small Business Administration as “America’s Seed Fund.” … is a growing area with tremendous opportunities for small businesses. The NHGRI small business program has …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… investigators have discovered disease genes and identified small molecules to treat inherited diseases and malignancies. …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… Every red blood cell contains thousands of hemoglobin molecules.   The genes in our body code for different types … hemoglobin A. For individuals with sickle cell disease, a small amount of HbF continues to be produced after birth.   …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… proteins, called histones. Without such packaging, DNA molecules would be too long to fit inside cells. For example, if all of the DNA molecules in a single human cell were unwound from their … father. The pattern of inheritance is different for the small circular chromosome found in mitochondria. Only egg …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… inside your food create some of the most important molecules in your cells. Scientists are looking at how not … enough of some vitamins can affect one of these essential molecules, DNA.  “You need to create more DNA if you're going … the differences the researchers saw in humans were very small.  We’ve often thought of nutrient status as important …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Gaucher disease and parkinsonism and the development of small molecule chaperones as therapy for Gaucher disease and … the NIH Chemical Genomics Center, hundred-thousands of small molecules were screened, leading to the discovery of …