Search Results
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma. OI is also called "brittle …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Newborn screening in the United States is a major public health success that has saved countless lives. Each state … speed as traditional methods? Is having a genome sequence from birth useful for that individual's clinical care? What … the risk to newborns that the identification of specific genetic variants , such as a predisposition to a disease, …
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
… Genetic Engineering … Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism. … Genetic Engineering, Recombinant DNA, Genes, DNA Sequence … Genetic engineering (also called genetic modification) is a …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… and your support systems make choices about your physical health, while thinking about the impact on your mental health and psychological well-being. These are some … There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… On November 21, 2017, experts from the National Human Genome Research Institute (NHGRI) turned to Reddit to answer questions from the Reddit community about their work on family health history as part of an "Ask Me Anything" (AMA). … or DTC genomics companies such as 23andMe, genetic testing and ancestry services provide one route to …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… on growing availability of large-scale genomic and health record data worldwide to advance the science of precision health. … optimistic expectations in terms of discoveries about the genetic basis of health and disease,” said NHGRI Director … the new informatics approaches, which in turn will help to test new diagnostic and treatment approaches. This …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… Genetic Marker … A genetic marker is a DNA sequence with a known physical … Genetic Marker, DNA Sequence, Chromosome, Genetic Disease, Inheritance … A genetic marker is a DNA sequence with a known physical location on a chromosome. Genetic markers can help link an inherited disease with the …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … and blocks the pancreas, which stops digestive enzymes from reaching the intestine where they are required in order … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… physicians to diagnose, manage and counsel patients with genetic disorders. … Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical … access to the vast resources at the National Institutes of Health (NIH) and at other highly ranked medical institutions …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… The National Institutes of Health (NIH) is awarding $5.4 million in first-year funding … opportunity to generate new medical understandings from genomic data, which is critical to realizing the promise … opportunity to generate new medical understandings from genomic data, which is critical to realizing the promise …