Search Results
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the … to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is …
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … Genetic tests may be used to identify increased risks of … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease Identify gene … or manage your health. Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the … Genetic Map, Chromosome, Genes, Linkage Analysis, Family … A genetic map (also called a linkage map) shows the relative location of genetic markers (reflecting sites of genomic variants) on a … A genetic map is a type of chromosome map that shows the …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … broadened the traits and symptoms associated with known disorders, and offered insights into newly described … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … the care and clinical research of patients with metabolic disorders. The residency program includes many didactic … in the medical management of patients with metabolic disorders. They diagnose, manage and counsel outpatients and …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not regulated, meaning that they go … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… that an individual will be affected by a particular genetic disorder. … individual will be affected by a particular heritable or genetic disorder. Both a person’s genome and environmental … An individual’s risk may be higher because they inherit a genetic variant (or allele) in one gene or a combination of …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… Genetic Architecture … Genetic architecture is the combined effect of all genetic influences on a trait. … Genetic architecture describes the combined contribution of all genetic influences on the trait. This includes how many genes … Genetic architecture is the combined effect of all genetic …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… March 20, 2026 Update: Unfortunately, the JHU/NIH Genetic Counseling Training program will be sunsetting as of … have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive … graduate program that addresses the growing need for genetic counseling services. …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Blood tests and family genetic studies can show whether an individual has … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or … child with thalassemia. A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro …