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News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or … To date, they have discovered 23 new genetic disorders and disease phenotypes. "The UDP has been an extraordinary …
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 …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific … the now widely accepted concept of autoinflammatory disease to denote a group of disorders mediated by cells of … IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an autoinflammatory disease characterized by …
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 … Sickle Cell Disease Centers for Disease Control and Prevention- Sickle Cell Disease … Use the following contact …
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 …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent attacks of fever, … a characteristic ankle rash. … FMF is considered a rare disease worldwide. However, it is very common in people of … Fever (FMF) is an autosomal recessive inherited disease, which means it appears only in individuals who …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal … which vary among individuals. … 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 (Diabetes Mellitus) … 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 …
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 … The term candidate gene refers to … is believed to be related to a particular trait, such as a disease or a physical attribute. Because of its genomic …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … Improved Understanding of … risk factors helps us assess a person's susceptibility to disease. With further research on the associated biological … is to support research into the causes, treatment and prevention of arthritis and musculoskeletal and skin …