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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.
… 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 … either over- or under-predict the patient’s risk for the disease. Such concerns are especially true for younger …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… (one from each parent) to cause the disorder. Huntington’s disease is an example of an autosomal dominant genetic …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle cell disease in adults by looking at many factors, including … a primary focus of this study, we are investigating the disease as a whole and studying the wide range of …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal … 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.
… Diabetes mellitus is a disease characterized by an inability to make or use the … Insulin, Type II Diabetes, Type I Diabetes, Autoimmune Disease … Diabetes mellitus is a disease characterized by an inability to make or use the … Diabetes mellitus is a disease characterized by an inability to make or use the …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… whose chromosomal location is associated with a particular disease or other phenotype. … Genes, Chromosome, Phenotype, Traits, Disease, Linkage Analysis … is believed to be related to a particular trait, such as a disease or a physical attribute. Because of its genomic …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… tend to occur together and are associated with a specific disease. … X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … tend to occur together and are associated with a specific disease. …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… a more profound understanding of the biological basis of disease will pave the way for more effective ways to … clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with … of clinical trials of a drug to combat mitochondrial disease, determine the safety and effecacy of drugs, and …