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The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Eric Green, M.D., Ph.D. … As Summer 2020 comes to an end, many of us continue to spend the bulk of our time … of the central challenges in biology is understanding how genomic variation affects genome function to influence … numerous genomic variants that may play a role in human disease. However, there is limited information about how any …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… Oncogene … An oncogene is a mutated gene that contributes to the development of a cancer. … Carcinogen, Mutagen, … … An oncogene is a mutated gene that has the potential to cause cancer. Before an oncogene becomes mutated, it is … mutated, changing it into an oncogene and causing the cell to divide and multiply uncontrollably. Some oncogenes work …
News Release
Washington University in St. Louis awarded an honorary Doctor of Science to Eric D. Green, M.D., Ph.D., for his contributions to the field of genomics.
… in St. Louis awarded an honorary Doctor of Science degree to Eric D. Green, M.D., Ph.D. , in recognition of his contributions to the field of genomics and its application to … the generation and analyses of sequences from targeted genomic regions in evolutionarily diverse species, and …
Event
A series focusing on a specific topic of genomic research by pairing an early career researcher funded under NHGRI’s Genomic Innovator Award Program with an established researcher whose own contributions have paved the way for the specific research area.
… 2022, NHGRI will host a new seminar series based on its  Genomic Innovator Award  Program, which supports innovative … Program with a more senior researcher whose work relates to the research area, to provide additional context. Since … Award Program with an established researcher whose own contributions have paved the way for the specific research …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … with GD, this enzyme does not function correctly, leading to a buildup of that byproduct. The macrophages malfunction … non-neuronopathic (type 1).  Type 1 GD: This is the most common presentation of GD in the United States and in the …
Profile
After 50 years of federal service, Dr. Graham reflects on her contributions to the scientific community and the future of the genomics workforce.
… Dr. Graham reflects on her contributions to the scientific community, her retirement and the future of … up or give in.” It would be impossible to list all of the contributions that Dr. Graham has made in over 50 years of …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… The Insights into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study … disease in adults by looking at many factors, including genomic, microbial, physical and social influences. … The …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… for informed consent and provides guidance on how to approach them. It also provides sample language to help … form should reflect the research uses for which samples, genomic data, and health information might be shared. … are not considered to be research subjects under the Common Rule, there are consent-relevant considerations …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… involve scanning markers across the genomes of many people to find genetic variations associated with a particular … useful in finding genetic variations that contribute to common, complex diseases, such as asthma, cancer, diabetes, … research tools that make it possible to find the genetic contributions to common diseases. The tools include …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular … (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying …