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News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… of two cases lost to follow-up as keys to solving these conditions. (Clinical Genetics and Dysmorphology) 2571W. Joan …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… genotype-first approach uncovers new links to genetic conditions. … National Institutes of Health researchers have … uncovered new relationships between genes and clinical conditions, broadened the traits and symptoms associated with … and first author of the paper. Typically, to treat genetic conditions, researchers first identify patients who are …
Staff
Dr. David Miller is the incoming chief of NHGRI's Scientific Review Branch.
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… to new associations of genetic variants with a number of conditions and disorders, such as obesity and asthma. … The … aspect of the genetic architecture of different traits, conditions and diseases. They examine the genome in many … a particular genetic variant and many disorders and conditions. A phenome is an individual's complete set of …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… does a thorough examination of any and all of your health conditions.  NIH Day 2: Bone marrow biopsy and/or skin … … Natural History Study of Hematologic and Premalignant Conditions Associated with RUNX1 Mutation … NIH RUNX1-FPD …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… of Hydractinia  could provide clues to human reproductive conditions. … Description:  Although Hydractinia  is … system and the formation of reproductive-based conditions and diseases in humans. “By sequencing and …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… to the study of genes and the way that certain traits or conditions are passed down from one generation to another. … - in other words, the way that certain traits or conditions are passed down from one generation to another. … Genetics helps individuals and families learn about how conditions such as sickle cell anemia and cystic fibrosis are …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… Most of these microbes cannot live outside of the conditions provided by the human body, thus hampering their … this added complexity, iHMP was limited to three disease conditions: preterm birth, onset of inflammatory bowel … metabolic pathways) are gained or lost with these disease conditions. iHMP published a set of papers describing their …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… Institute, respectively, where she acquired expertise in neurogenetic and neuroimmune disorders. In 2018, she joined … Her prior work spans multiple neuroinflammatory conditions including autoimmune encephalitis, acute flaccid …
Clinical Research
A study for patients with unexpected genetic results
… about their risk for cancer, heart disease, and other conditions after having genetic testing done for some other … Many of these results are related to cancer risk and heart conditions . If you think you have received a secondary … diagnosis, researchers discover other treatable health conditions … The NIH Clinical Center is located in Bethesda, …