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For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… ​​ ​ … Family Health History, Pharmacogenomics, Undiagnosed Disease, Genetic Disease, Genetic Condition, …
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.
… 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. … Educational Resources …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
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.
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.