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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate disease surveillance strategies, and provide better, tailored …
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 …
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.
… cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was … understanding of the effects of genomic variation on disease, researchers urge the need to include as many diverse … of specific genomic variants and cardiovascular disease. However, the design of these studies overwhelmingly …
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 …
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, … FMF is considered a rare disease worldwide. However, it is very common in people of … under control, possibly by inhibiting the immune inflammatory response. There are more than 30 mutations in …
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. …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… medicine to help those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … risk factors helps us assess a person's susceptibility to disease. With further research on the associated biological … treatments to each individual." Identifying autoimmune disease susceptibility genes can be a challenge because in …