Search Results
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly. … of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly. People … of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly. …
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome. … that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome. In certain … that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome. …
Educational Resources
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations.
… Mapping is the process of making a representative diagram cataloging the … Mapping refers to the process of determining the relative locations of landmarks or … Mapping is the process of making a representative diagram cataloging the …
FAQ
On August 23, 2023, the National Human Genome Research Institute hosted a pre-application webinar for the Investigator-Initiated Research in Genomics and Health Equity RFAs: RFA-HG-23-017 and RFA-HG-23-018.
… in the RFA. Applicants should be familiar with the review criteria described in Section V. Application Review Information that describes how the proposed study … scored with respect to innovation, approach, and the other review criteria. … convene a Special Emphasis Panel in accordance with NIH peer review policy and procedures. …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… and human tissues and cell types. Transcription is the process by which a gene's instructions are read. Chromatin is …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… that control gene expression. The current work builds on initial catalogs published in 2010. The modENCODE projects … fly and worm - tells us it is a very ancient, fundamental process." In one study, scientists led by Dr. Gerstein and …