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Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies … Over the years, section members have defined the basic defects in cystinosis, Salla disease, infantile free sialic … Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I. Genetic defects and clinical characteristics of patients with a form …
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.
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 …
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 …
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 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 …
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 …