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Policy Issues
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 … and how different changes in these genes affect a person's risk of getting a disease. Many genes have more than one …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology … a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer Research in 1981 and served … He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… of the HHS Career Achievement Award this year. "Bill's many years of contributions to genetics and genomics … truly fortunate to have him within our ranks." Dr. Gahl's signature achievement was the founding of the National … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or …
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 … because its development depends strongly on a person’s genetic predisposition, combined with their environment and … not have complete or accurate knowledge of their relative’s diagnoses, age at diagnosis, lifestyle and cause of death. …
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 … Polygenic risk scores provide an estimate of an individual’s risk for specific diseases, based on their DNA changes … to determine risk for such diseases.” Since the field’s inception, the genomics community has performed over 6,000 …
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 (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 … Insulin is needed by cells to metabolize glucose, the body's main source of chemical energy. Type I diabetes, also …
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 …