Search Results
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… of research about ATG4D ’s involvement in more common conditions. “That’s the million-dollar question in rare … how those pathways contribute to other rare and common conditions.” NIH researchers and clinicians continue to work …
Research at NHGRI
In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and treat a diverse group of clinical conditions.
… understand, manage, and treat a diverse group of clinical conditions. … Staff Clinicians … In NHGRI, Staff Clinicians … understand, manage, and treat a diverse group of clinical conditions. … In NHGRI, Staff Clinicians work on many … understand, manage, and treat a diverse group of clinical conditions. … Research at NHGRI …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… in cases that involve patients with prolonged undiagnosed conditions. … Each clinical site will contribute local … program that has enrolled people with intractable medical conditions from nearly every state, the District of Columbia … many diagnoses, often using genomic approaches, for rare conditions. "Newly developed methods for genome sequencing …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… in the care of children with rare genetic or undiagnosed conditions . Journal of Child and Family Studies . DOI: … LM. The impact of caregiving for children with chronic conditions on the HPA axis: A scoping review . Front … Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in …
Talking Glossary
When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
For Patients and Families
Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.
… … Pharmacogenomics, Genome, Medicine, Drugs For Genetic Conditions … Pharmacogenomics combines the science of how …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important to …
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.
… on to children Screen newborn babies for certain treatable conditions Genetic test results can be hard to understand, …