Search Results
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … genomic architecture underlying common, complex inherited diseases. Understand how best to design rare variant studies … research community. The CCDGs study cardiovascular diseases (early-onset cardiovascular disease, atrial …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Researchers used bioengineering to create mice with a human gene that produces the defective hemoglobin causing … "corrected" by the addition of the anti-sickling human beta-hemoglobin gene. The corrected marrow was then … are hopeful that the techniques can be applied to human gene transplantation using autologous transplantation, …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: February 7, 2017 …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … Clinical and research experts from the Undiagnosed Diseases Network (UDN) have joined forces to solve the most … or cell biology, currently or potentially related to a human disease. - William Gahl The Reddit community was also …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… the generation and analysis of “multi-omic” data for human health research. Multi-omics refers to a research … the molecular factors and cellular processes involved in human health and disease, including untangling genetic and … drug targets. “Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… C, Boehm M. Stat3-dependent acute Rantes production in vascular smooth muscle cells modulates inflammation following … Trier AM, Huang Y, Stone DL, Hill S. Activated STING in a vascular and pulmonary syndrome. N Engl J Med, 371(6):507-18. … Manfred Boehm, human vascular diseases, precision medicine, human induced …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… for many years (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical … paid to understanding the underlying costs of generating a human genome sequence. Accurately determining the cost for sequencing a given genome (e.g., a human genome) is not simple. There are many parameters to …
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
… Human Genome Project … The Human Genome Project was an international project that mapped and sequenced the entire human genome. … Human Genome Project, Francis Collins, DNA, Genomics, Base … The Human Genome Project was a large international, collaborative effort that mapped and sequenced the human genome for the first time. Conducted from 1990 to 2003, …