Search Results
Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… genomic screening for common, actionable genomic conditions in a primary care setting. … Virtual … Population … genomic screening for common, actionable genomic conditions in a primary care setting. … On October 10, 2024, … genomic screening for common, actionable genomic conditions in a primary care setting. … Event …
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, …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… contribution to families and individuals affected by these conditions. This study will provide information that will … obtain genetic testing: https://www.ncbi.nlm.nih.gov/gtr/conditions/C1853926/ Where will the study take place? At the …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… that help the body fight infections. During stressful conditions, these cells produce a microRNA called mir4485 . … energy, so they are unable to survive the stressful conditions.” Researchers used a technique called VirScan to …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… used for CT and/or MRI scans. Identification of medical conditions that could require further medical …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… of genomic knowledge, with a focus on behavioral conditions. Given the wide range of methods for … public engagement, genomic knowledge, behavioral conditions, genomic applications … Dr. Chris Gunter is a …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.