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For Patients and Families

List of resources to help you find accurate and reliable information on genetic and rare diseases.

… your medical care. … Information on just about any disease can be obtained from the published scientific … These articles present what is known to date about a disease. Such articles may focus on the cause, diagnosis, treatment or other aspects of a disease. Basic science or laboratory research: These articles …

Policy Issues

How is Genome Editing Used?

Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.

… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic … (traits). A typical study might be to model human disease in mice by deleting or editing certain genes that are …

News Release

NIH names new clinical sites in Undiagnosed Diseases Network

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 …

News Release

Bill Gahl receives HHS Career Achievement Award

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

Diverse genome sequences provide a powerful tool for studying risk of heart disease

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 …

Staff

Ivona Aksentijevich, M.D.

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 …

Educational Resources

Autosomal Dominant Disorder

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

INSIGHTS Study

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 (Trisomy 21)

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. … …