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15 Ways Genomics Influences Our World
Human Origins and Ancestry
Genomics is illuminating human and family origins at a level not previously possible.
News Release
More widespread access to genomic medicine vital for studying a rare, underdiagnosed blood disorder
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.   …
Your Genome
Health
Information about the relationship between genomics and health for patients, families and health professionals.
Educational Resources
Genetic Counseling
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
News Release
New NIH studies seek adults and families affected by sickle cell disease/trait
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… and sickle cell trait, including those from Latin America, Mediterranean countries, the Middle East, Asia and India. The …
News Release
Decades after rare disease diagnosis, family and physician hail genomic breakthrough
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
Clinical Research
Current Clinical Studies
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
Clinical Research
Gaucher Disease Clinical Studies at NIH
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
News Release
2018 News Feature: New technique promises more accurate genomes by sequencing families
Researchers developed a technique that will aid in a more accurate reconstruction of human genomes.
For Patients and Families
Neglected Diseases FAQ
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… America. Schistosomiasis. Also known as bilharzia or snail fever, this parasitic worm disease is transmitted by snails …