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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.
… 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
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 …
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 …
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 …
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 …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… wants to ensure that all populations are knowledgeable about the science underpinning the Human Genome Project and genomics research, and have the opportunity to participate in … strongly urged to contact the appropriate person and ask questions. NOT-OD-09-074 : Enhancing Peer Review: The NIH …
About Genomics
NHGRI offers timelines to provide historical perspective on various genomics-related topics.
… timelines to provide historical perspective on various genomics-related topics. … Timelines … NHGRI offers timelines to provide historical perspective on various genomics-related topics. … NHGRI offers timelines to provide … perspective on various genomics-related topics. … About Genomics …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… then a postdoctoral research fellow in the laboratory of genomics pioneer Maynard Olson at Washington University … human chromosome. By the way, we were not yet worrying about how we were actually going to sequence an entire human … will be available at the virtual booth via chat to answer questions about topics ranging from training to new funding …