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Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… occur as a natural process of development and tissue differentiation, and can be altered in response to …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… pile up, causing blockages and damaging vital organs and tissue. Sickle cells are destroyed rapidly in the bodies of … block the flow of blood through vessels, resulting in lung tissue damage that causes acute chest syndrome, pain …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… mutations that led to someone's cancer, no matter what tissue it was located in, then we can look for more specific … biopsies or operations where tiny parts of the cancer tissue are removed for study. This also makes it harder for …
File
… X3A . CONCEPT CLEARANCE – Developmental Genotype- Tissue Expression (RFA) – Jyoti Dayal Jyoti Dayal pr esented the Developmental Genotype- Tissue Expression (dGTEx) concept , which will be an addition … By doing so, the program would establish an atlas of tissue -specific gene expression data, enhance our …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
Staff
Dr. Ajay Pillai is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… programs: HuBMAP (single-cell mapping of “normal” human tissue and organs) and IDG (developing computational and …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… include discovering a gene that is crucial for tissue and organ formation during development. The gene …
Staff
Dr. Elisabeth F. Heuston is a molecular biology and bioinformatics Staff Scientist with the Center for Research on Genomics and Global Health (CRGGH).
… isolate high quality DNA and RNA from a bank of stabilized tissue samples collected as part of the Africa America …
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 May 2023.
… Null Alleles in Cells (MorPhiC) 22 Developmental Genotype-Tissue Expression (dGTEx) Human dGTEx Program Website …