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Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… of blood is drawn from the arm. Both of these tests are about 85 percent accurate. They may miss people who have the … HGARD: Hemachromatosis type 1 … What do we know about hereditary hemochromatosis? … Is there treatment for … … Is there a test for hereditary hemochromatosis? … About Hemochromatosis … Hereditary hemochromatosis is a …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… assumed. Additional Resources for Holoprosencephaly About Holoprosencephaly NINDS Holoprosencephaly Information … GARD: Holoprosencephaly … What do we know about holoprosencephaly? … Is there a test for … for holoprosencephaly? … What is the prognosis? … About Holoprosencephaly … Holoprosencephaly is a disorder …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… future offspring would have the condition. To learn more about the genetic test for progeria, go to The Progeria … Hutchinson-Gilford Progeria Syndrome … What do we know about heredity and progeria? … Is there a test for progeria? … About Progeria … Progeria is an extremely rare genetic …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… that carries oxygen and nutrients to cells in the body. About 100,000 babies worldwide are born with severe forms of … Thalassemia.com GARD: Thalassemia … What do we know about heredity and thalassemia? … Is there a test for thalassemia? … About Thalassemia … ​Thalassemia is a group of inherited …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… for achondroplasia? … Is achondroplasia inherited? … About Achondroplasia … Achondroplasia is a disorder of bone …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… … How is neurofibromatosis treated? … What do we know about heredity and Neurofibromatosis? … About Neurofibromatosis … Neurofibromatosis is a genetic …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… the treatment for hemophilia? … Is hemophilia inherited? … About Hemophilia … Hemophilia is a bleeding disorder that …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… … What is the treatment for PKU? … Is PKU inherited? … About Phenylketonuria … Phenylketonuria is an inherited …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… author, category and/or by date range.  For an explanation about the selection criteria and categories, see the list of … Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, … Group has compiled a list of interesting advances. … Genomics and Medicine …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… Eric Green, M.D., Ph.D. … This issue of The Genomics Landscape  comes at an especially difficult time, … available (and growing!) that provide valuable information about the COVID-19 pandemic, including those at the Centers … NHGRI seeks input from the genomics community to learn about programs and strategies that have proven successful at …