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Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… people who have WAGR syndrome have two or more of these conditions. Also, people can have WAGR syndrome, but not have all of the above conditions. Other names for WAGR syndrome that are used are: …
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 …