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News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… electronic medical records and genomics (emerge) genomic risk assessment and management network, which establish … protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate their … sites specifically focused on better understanding disease risk and susceptibility by combining genomic and …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… interactive q&a webinar for the emerge genomic risk assessment and management network funding opportunities. … non-ea individuals during year 1. … do the proposed disease -specific genomic risk assessment and management … primary purpose for performing the selected genomic risk assessments . will sites be required to implement all 15 …
News Release
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… developed a new statistical model that can predict the risk for developing diseases by combining information from … the researchers used type 2 diabetes mellitus (t2d) as the disease model for their study. an estimated 30 million people … chronic diseases to treat. t2d is known as a complex disease because its development depends strongly on a …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… in diseases across different populations. a “polygenic risk score” is one way by which people can learn about their risk of developing a disease , based on the total number of changes related to the … their physicians and genetic counselors for further health assessments . … the majority of genomic studies to date have …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… of genetic tests. genetic tests can help to: diagnose disease identify gene changes that are responsible for an already diagnosed disease determine the severity of a disease guide doctors in … individuals identify gene changes that may increase the risk to develop a disease identify gene changes that could be …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… new and more powerful ways to assess people’s genetic risk for developing various diseases . one approach has … approaches for using polygenic risk scores as a tool for disease prediction and, it is hoped, improved health … by variants in more than one gene), such as coronary heart disease , diabetes, and depression. such methods take into …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… "ask me anything" (ama). … common diseases such as heart disease and diabetes are highly complex, with multiple factors that play into your risk of disease development. these factors - like genetics, … challenges in using that information to improve risk assessments and behavioral recommendations. in our research, …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. scientists estimate that each … "deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … of genes that have large effects on an individual's risk for developing rare diseases . these same approaches …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in only a few people. most of these variants do not affect disease risk , response to drugs or other traits such as height. how … the genomes of thousands of people with and without a disease or trait are compared to find the chromosomal regions …
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 … neurological manifestations seen in patients with gaucher disease . the gene coding for the enzyme glucocerebrosidase … mutations in the gba1 gene give individuals an increased risk for the development of parkinson disease . further …