Search Results
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… Agency for Health (called ARPA-H). ARPA-H aims to conduct high-impact biomedical and health research with a mission “to … to the COVID-19 pandemic, NISC has continuously produced high-quality DNA sequence since its inception — albeit with a … health. Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… the impact of genetic and metabolic disease on healthy and high risk pregnancies. The four year training program is open … Genetic And Metabolic Disease, Healthy Pregnancies, High-risk Pregnancies, Obstetrics And Gynocology, …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, … the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, … the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, …
Educational Resources
Western blotting is a laboratory technique used to detect a specific protein in a blood or tissue sample.
… technique used to detect a specific protein in a blood or tissue sample. … Electrophoresis, Protein, Antibody, … technique used to detect a specific protein in a blood or tissue sample. The method involves using gel …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … usually no symptoms. The first signs of this cancer may be blood in the urine, a low-grade fever, loss of appetite, … (nystagmus); and all or partial loss of vision due to high pressure of the fluid in the eye (glaucoma). Genital and …
News Release
NHGRI participated in a science communications contest called the Three-Minute Talk. NHGRI's Ryan Johnson came away with a first place win.
… National Institutes of Health recently participated in a high-energy science communications contest called the … Americans Resistant hypertension, or persistently high blood pressure despite concurrent use of three or more …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… interventions to improve management of diseases such as high blood pressure, depression and chronic pain. The trials are part of …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… liver and problems in other organs, such as the heart and blood vessels in the brain. … ADPKD is usually an adult-onset … abnormalities of blood vessels (vascular system) such as high blood pressure (hypertension) intracranial and aortic aneurysms, …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… hypercholesterolemia is an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol … hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol … However, if too much cholesterol is present in the blood stream, it builds up in the wall of the arteries and …
Educational Resources
A trait is a specific characteristic of an organism.
… (such as eye color) or quantitative (such as height or blood pressure). A given trait is part of an individual’s overall …