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News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… the genomic and clinical profiles of people with RUNX1 familial platelet disorder. … A few years ago, Emily* … way. Many of Emily’s doctors have never heard of RUNX1 familial platelet disorder (RUNX1-FPD), let alone know how to … came back two weeks later, they confirmed that she had the familial RUNX1 variant and was diagnosed with RUNX1-FPD. …
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … forms of neurofibromatosis. … Overview … List of Genetic Disorders … Featured Content … Genetic Disorders … A list of genetic, orphan and rare diseases under …
News Release
Check out this video from NHGRI Director Eric Green talking about the importance of knowing your family health history.
Health
Guidance on collecting your family health history information before visiting the doctor.
… and other blood relatives can help your doctor predict the disorders to which you may be at risk, and help you take …
Health
Resources about genetic diseases and the importance of knowing your family health history.
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… is a pattern of inheritance characteristic of some genetic disorders. … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is … is a pattern of inheritance characteristic of some genetic disorders. … Talking Glossary …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the … of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and the … Genetic Testing, Rare Disease … FAQs about genetic disorders, the impact of genomics on your health, and the …
Health
The Family Health History Group connects stakeholders, researchers, and thought leaders to share learning, understand barriers in depth, and discuss issues and potential solutions related to the collection of family health history information.