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Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
Event
The Ethical Legal and Social Implications (ELSI) Research Program is hosting a webinar to gather specific feedback on four potential goals for the field of ELSI research over the next decade.
… related engagement events  including town halls, meetings and workshops. NHGRI staff formed internal working groups tasked with identifying and describing ambitious challenges to address in the next … working group that focused on ELSI, engagement and education issues in the Strategic Plan hosted two distinct …
Educational Resources
Messenger RNA (abbreviated mRNA) is a type of single-stranded RNA involved in protein synthesis.
… where the protein-making machinery reads the mRNA sequence and translates each three-base codon into its corresponding …
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
… at a single base position in the DNA. Scientists study if and how SNPs in a genome influence health, disease, drug response and other traits. … Single nucleotide polymorphisms (SNPs) …
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. … Duplication is a type of mutation that …
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.
… Ph.D. … 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 …
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 … to graduate students. Global Genetics and Genomics Community (G3C) – A set of unfolding, interactive genomic …
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 … M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome Research Institute …
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 …