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News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic … NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three … could lead to new avenues of research about ATG4D ’s involvement in more common conditions. “That’s the …
Educational Resources
A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three.
… in the addition of the wrong amino acids to the protein and/or the creation of a codon that stops the protein from …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… tension that spans all areas of biomedical research and clinical practice is the question of how experts can act in the best interest of patients and research participants without assuming they know what is … On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion - Genetic Paternalism: …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Newly discovered gene helps some yeast endure toxins and can help scientists understand toxin resistance. … … by the toxin were classified as highly resistant and the affected ones as sensitive. Then, the researchers … Ph.D., an investigator in the Genetic Disease Research Branch at NHGRI and senior author of the study. “A …
Fact Sheet
Understanding gene therapy for sickle cell disease
… sickle cell disease. Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To … worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which … therapy education materials for the sickle cell disease community … Gene therapy patient education materials … …
Educational Resources
Microarray technology is a general laboratory approach that involves binding an array of thousands to millions of known nucleic acid fragments to a solid surface, referred to as a “chip.”
… or tissue). Complementary base pairing between the sample and the chip-immobilized fragments produces light through … can be used for a variety of purposes in research and clinical studies, such as measuring gene expression and detecting specific DNA sequences (e.g., single-nucleotide …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid. The study, published … generated in this study is available to the scientific community for use in other studies, with additional …
Healthcare Provider Genomics Education Resource
This FAQ was designed to answer questions regarding how nurses integrate genomics into their education and practice.
… the Inter-Society Coordinating Committee for Practitioner Education in Genomics ( ISCC-PEG ) has created a Nursing … Nurses, 2) Advanced-Practice Nurse Practitioners, and 3) Advanced-Practice Nurse Educators. This FAQ was … R.N. Assistant Professor, University of Texas Medical Branch Galveston, TX Rich Haspel, M.D., Ph.D. ISCC-PEG …
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
… Cytogenetics … Cytogenetics is the branch of genetics that studies the structure of DNA within … is a branch of biology focused on the study of chromosomes and their inheritance, especially as applied to medical … During cell division, these structures become condensed and are visible with a microscope. Special staining …
News and Events
A list of events involving or taking place at NHGRI.
… list of events involving or taking place at NHGRI. … News and Events …