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
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 …
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 …
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 …
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 …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
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, …