Search Results
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The discovery of the genes and genetic variants that underlie human Mendelian disorders is … involve similar genes, pathways, and phenotypes. While the genetic basis of more than 5,000 Mendelian disorders has been … so far, many more Mendelian disorders and their underlying genetic basis have yet to be discovered. Recent advances in …
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 …
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. … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research … clinical findings based on their understanding of the disorder. The phenotype-first approach limits researchers …
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 …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …
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 exposures … that an individual will be affected by a particular genetic disorder. …
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 …
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. …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … to 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single gene, … skills, cognition and communication. Because most rare genetic disorders are due to a single faulty gene, gene …