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Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… also an option for carriers who don't want to risk giving birth to a child with thalassemia. A new technique, … parents who have thalassemia or carry the trait to give birth to healthy babies. Embryos created in-vitro are tested …
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 …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
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.
… from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… are diagnosed with progeria within the first two years of birth, and virtually all of these children develop health … a dozen mice with the progeria-causing mutation soon after birth. The gene editor successfully restored the normal DNA …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… or 3) brain injuries occuring before, during or after birth. … Brain images of children with ADHD may show …
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 …
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 March 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., honors the recipients of the inaugural Outstanding Award for Enhancing DEIA in the Genomics Workforce - Pardis Sabeti (Harvard University), Bettie Graham (NHGRI) and Ann Mc Cartney (University of California, Santa Cruz) - for exemplifying powerful ways to promote diversity, equity, inclusion and accessibility.
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First pediatric research …
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 …