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Educational Resources
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
… mechanism in the evolution of the genomes of humans and other organisms. …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) provides a venue for individuals to collaborate and develop educational resources. The opinions expressed in … National Institutes of Health, the Department of Health and Human Services or the United States government. …
News Release
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… teoP the Alchemist “A poem about writing poetry and doing science, both are about making observations and reporting them. It's just that one uses adverbs and the … emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.  Your browser …
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.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the … Soo: What was your path to becoming a clinician and a researcher? Ferreira: Initially, I wanted to be a … pursue a career in medicine because I found it challenging and stimulating and because I wanted to make a difference in …
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
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 …
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 … therapies, more than 50 scientists, physicians, patients and other experts worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which …
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
… Cytogenetics is the branch of genetics that studies the structure of DNA within … Cytogenetics is a branch of biology focused on the study of chromosomes and their inheritance, especially as applied to medical … Cytogenetics is the branch of genetics that studies the structure of DNA within …
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 … serve many purposes in the cell, including isolating and degrading harmful substances like toxins.  To wreak its …