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News Release
Researchers build a statistical model using family health history to improve disease risk assessment
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.
… statistical model that can predict the risk for developing diseases by combining information from family members about … making it one of the most common and costly chronic diseases to treat. T2D is known as a complex disease because … relying on models that can only be used for complex diseases such as hypertension, high cholesterol and heart …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… provide an estimate of an individual’s risk for specific diseases, based on their DNA changes related to those diseases. “Finding the set of genomic variants that are … well polygenic risk scores work to determine risk for such diseases.” Since the field’s inception, the genomics …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the … to study the genetics of monogenic autoinflammatory diseases. Dr. Aksentijevich is certified in clinical … of several genes underlying known autoinflammatory diseases as well as the discovery of multiple previously …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, Mutation, Recessive, Dominant … is a pattern of inheritance characteristic of some genetic diseases. …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
… Consortium , IGNITE Consortium , and the NIH Common Fund Undiagnosed Diseases Network . Her research interests focus on ensuring … implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA , 106(23):9362-7. … Heather Colley, genomics careers, genomics training, Undiagnosed Diseases Network, NIH Common Fund …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
… workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On , in Silver Spring, Maryland, on May … Revisiting the Missing Heritability of Complex Diseases, Ten Years On … workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On, in Silver Spring, Maryland. …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.