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News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… do must drive discovery first. This will improve disease diagnostics and translation to therapies," he said. "At the …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… current flowing through the graphene.  Caerus Molecular Diagnostics, Inc., Mountain View, California $701,000 over …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
The Genomics Landscape
In the January 7, 2021 edition of The Genomics Landscape, Dr. Eric Green details NHGRI's new agenda on enhancing genomics workforce diversity.
… the public and private sector together to rapidly develop diagnostics, treatments and vaccines for COVID-19 A close-up …