Search Results
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data.
… Offices, and Centers* partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the … Virtual … Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the … Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, Mosaic Down Syndrome …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing …
Educational Resources
A birth defect is an abnormality present at birth.
… Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… into existing learning health systems. As genomic testing becomes increasingly common, more and more genomic … of genomic medicine. These could include implementing testing for hereditary diseases or using genomic information … of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… medical, social and ethical decisions surrounding genetic testing. Provide support and information to help a person make a decision about testing. Interpret the results of genetic tests and medical … a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… consider having an abortion regardless of what the testing indicated. Women who identified as Hispanic or Latina … non-invasive prenatal testing, Benjamin E. Berkman, genetic counseling …
Educational Resources
DNA fingerprinting is a laboratory technique used to establish a link between biological evidence and a suspect in a criminal investigation.
… investigations, other forensic purposes and paternity testing. In these situations, one aims to “match” two DNA …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease …
Social Media
NHGRI launched a Reddit Science "Ask Me Anything" series to share our genomics expertise with the public through online question and answer sessions.
… Reddit, Ask Me Anything, AMA, CRISPR, Genetic Testing …