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The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… iHMP was limited to three disease conditions: preterm birth, onset of inflammatory bowel disease, and onset of type … NIH-Funded Study Links Microbiome Composition to Preterm Birth Risk Among African-American Women Notable …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… to make the functional NPC1 protein to correct the cell defects.  The gene therapy involved inserting a functional …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… transduction. Sialic acid synthesis is tightly regulated; defects in this pathway cause a variety of disorders, …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… on wide-ranging topics such as infectious disease to birth defects. De-identified biospecimens are not considered human …
The Genomics Landscape
In the April 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 15th anniversary of National DNA Day and the '15 for 15' Celebration.
… Scientists Kids First: Genomic Studies of Orofacial Cleft Birth Defects Data Now Available Unlocking Life's Code: March 2018 …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… of a genome-wide association study of neural tube defects allows an unbiased search for genetic contribution. …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… methylmalonic acid is elevated 2) patients with combined defects who also have increased levels of homocysteine. … leading to methylmalonic acidemia. Patients with combined defects have elevations of methylmalonic acid and …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …