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Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.
… Chromosome, Gene, Deoxyribonucleic Acid (DNA), Positional Cloning …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… form of muscular dystrophy caused by a mutation in the DMD gene. … in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families … Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. The …
Staff
Dr. Elise Feingold was a scientific program manager in NHGRI's Division of Genome Sciences.
… (then NCHGR) in 1992 as a program director focused on gene discovery, gene expression and functional genomics. Since 2019, Dr. … with the National Cancer Institute, the Mammalian Gene Collection project, which created a comprehensive … EA, Good PJ et al. The completion of the Mammalian Gene Collection (MGC) . Genome Res , 19(12):2324-33. doi: …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… division that leads research aiming to understand the function of the human genome in health and disease, and seeks … disease-causing genomic variants and insights about genome function to generate new knowledge about the biological … Genome Sciences, the division that researches human genome function in health and disease. ​ …
Educational Resources
A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address.
… A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic … Locus, Allele, DNA Polymorphism, Gene, Chromosome … is a physical site or location within a genome (such as a gene or another DNA segment of interest), somewhat like a …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… actions you may want to take as you think about receiving gene therapy. …  There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and attitudes … care for your mental and physical health as you consider a gene therapy clinical trial.  Focus on your thoughts and …
Educational Resources
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations.
Educational Resources
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
… (CNV) is when the number of copies of a particular gene varies from one individual to the next. … Chromosomes, Disease, DNA, Gene Variation … stretches of DNA. Such regions may or may not contain a gene(s). … (CNV) is when the number of copies of a particular gene varies from one individual to the next. …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… to disease flare. Mechanistically, they are assessing the function of skin-associated bacteria in priming the immune … [ PubMed ] Human Microbiome Project Consortium. Structure, function and diversity of the healthy human microbiome. …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… research determining the effect of genetic variation on gene function and identifying primary targets for potential … kinase signaling and the search for the IL2Rg gene. In 1993, he moved to the NHGRI Intramural Research … negative cryptic splice mutation, c.1824 C/T, in the LMNA gene generates the mutant progerin protein responsible for …