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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. … 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. …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart studies phenotypes and genetic determinants of familial tumor-predisposition disorders. The goal of his work is to improve … and case report of a patient with NF1 and glomus tumor-associated CRPS. American Journal of Hospice and … Douglas Stewart, familial tumor-predisposition disorders, neurofibromatosis, …
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 … List of Genetic Disorders … Genetic Disorders …
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 …
News Release
Check out this video from NHGRI Director Eric Green talking about the importance of knowing your family health history.
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. … 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. …
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.
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 … FAQs about genetic disorders, the impact of genomics on your health, and the … FAQs about genetic disorders, the impact of genomics on your health, and the …