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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 …
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.
… of ~1/1000th of the human genome sequence – specifically, about 3 million G’s, A’s, T’s, and C’s stretching nearly 100 … “the complete human genome sequence would [have required] about 15 miles of hallway.” Check out a video tour of this … and accomplishments from the institute and the field of genomics. … The International Common Disease Alliance …