Search Results
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 …
Educational Resources
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions.
… energy produced by the mitochondria is stored in a small molecule called adenosine triphosphate (ATP). Mitochondria contain their own small chromosomes. Generally, mitochondria, and therefore …
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 …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… on the clinical management of rare diseases and trials of small molecule therapies for genetic disorders, diseases that …
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 … J, Austin CP, Sidransky E. High throughput screening for small molecule therapy for Gaucher disease using patient …
Fact Sheets
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.
… dye.DNA is composed of two strands of complementary molecules that bind to each other like chemical magnets. … type of probe is useful when scientists have isolated a small portion of a gene and want to determine on which …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… inflammation and the production of inflammation-related molecules. In contrast, FMF patients produce abnormal pyrin …
Infographic
The X chromosome is part of sexual development and many other biological processes, including how some cats get their distinctive coat colors.
… The inactivated X chromosome gets condensed into a small, dense structure in the nucleus, and is called a Barr …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2021.
… Development for Research and Clinical Application 15 Small Business Program NHGRI Small Business Program Website PA-20-025 - Development of … Analysis of Single Cells (SBIR) (R43/R44) NOT-EB-21-001 - Small Business Initiatives for Innovative Diagnostic …