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News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… advance, the researchers hope to spur development of a blood test that can be used to diagnose a variety of cancers … in developing a test to identify early cancers through a blood test." The NIH Intramural Sequencing Center sequenced … mammograms and it could be used to follow individuals at high risk for cancer or to monitor the activity of a tumor …
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 …