Experts at the National Human Genome Research Institute (NHGRI) have assembled answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.
Last updated: October 16, 2019