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News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… With assistance from a high tech robot, National Institutes of Health researchers have identified and tested a molecule … shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … Sidransky, M.D., a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic … The symptoms of Crohn's disease include: Abdominal pain, often in the …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… This accomplishment opens a new era in genomics research. … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have produced the … human genome. “This accomplishment begins a new era in genomics research,” said Eric Green, M.D., Ph.D., NHGRI …
About Genomics
February 15, 2021 marks the 20-year anniversary of publications reporting the draft human genome sequence.
… papers that revealed the first detailed look at the human genome's nearly complete sequence. A part of the Human Genome Project, these studies launched a new era … charts a thoughtful scientific journey for the future of genomics research. Reflecting on a detailed history that …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still … have implanted fetal tissue in rodents and non-human primates to better understand how to restore or replace …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… The NHGRI 'Genomics 2020' strategic planning process is gaining … That event was extremely helpful in revealing some of the major issues that are on the minds of genome … and those interested in the biomedical applications of genomics. The next 'Genomics 2020' Town Hall will take place …
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.
… to develop a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a representation of ~1/1000th of the human genome sequence – specifically, … ‘Genomics2020’ Strategic Planning events include: one of two data science web-based workshops held on Oct. 31, …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation … Researchers used bioengineering to create mice with a human gene that produces the defective hemoglobin causing …
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… Celebrating 30 years of genomics that has transformed our understanding of life and improved health. … HGP Timeline Illustration: Landmarks in genetics and genomics Hover or swipe over the illustration to zoom. The Human Genome Project (HGP) Timeline contains major milestones …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of …