Search Results
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare … Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … A longstanding medical condition that …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute at the National Institutes of … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences … of every chromosome, and in the race to sequence the human genome, the Y chromosome got left in the dust. Researchers …  Scientists Sequence Last Piece of The Human Genome: The Y Chromosome Science: ‘Most troublesome …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … recognizes research achievements by trainees in basic, clinical, and social behavioral science research. … NHGRI Intramural Research Program, Basic Research, Clinical Research, Social Behavioral Science Research, …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… into the organization and regulation of our genes and genome … The Encyclopedia of DNA Elements (ENCODE) Project is a worldwide effort to understand how the human genome functions. With the completion of its latest phase, … As a new feature, ENCODE 3 researchers created a resource detailing different kinds of DNA regions and their …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Judith Wyatt … Dr. William Gahl, clinical director at the National Human Genome Research Institute (NHGRI), has given dozens of … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… Genomics … Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of … particular gene. … Genomics, Genes, Gene Expression, Human Genome Project … Genomics is a field of biology focused on studying all the DNA of an organism — that is, its genome. Such work includes identifying and characterizing all …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… Genome … The genome is the entire set of genetic instructions found in a cell. … Genome, Genomics, DNA Sequence, Human Genome Project, Genes … The genome is the entire set of DNA …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… whether, and with whom, their post-mortem results of clinical relevance should be shared, and any authorization to … do not have [disorder]. You may learn something about your genome that relates to the health of your relatives. If so, … guidance on how to approach them. … The Informed Consent Resource …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the … and Functional Genomics Branch at the National Human Genome Research Institute (NHGRI), who has led an NIH …