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News Release
Researchers from NHGRI, Oxford University and other National Institutes of Health centers have developed and tested a new method to predict hospital-acquired infections involving five other important pathogens.
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… identification of genomic variants associated with blood lipid levels. … of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to …  Lipids are fat-like substances that can be found in blood and body tissues. They come in two major forms — …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… Pamela Schwartzberg, white blood cells, immune system, infection, immunization …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… of the same gene in patients with a similar type of blood vessel inflammation. … only to a diagnosis, but to fundamental new insights into blood vessel disease. In their study, which appears in the … production of a protein vital to the integrity of healthy blood vessel walls. "This discovery is another example of …
News Release
NIH researchers and their colleagues identified multidrug-resistant pathogens on the skin of residents in nursing homes. They found that these potentially dangerous microbes spread widely among residents, indicating a need for improved testing and infection control measures to protect people in nursing homes and other vulnerable populations.
… widely among residents, indicating a need for improved testing and infection control measures to protect people in … nursing home in the Chicago area that — despite following testing and isolation protocols — reported transmissions of … six sites across each resident’s skin. “Traditionally, testing procedures only sample one site on the body, but our …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… test called a chromosome analysis is performed on a blood or skin sample to look for an extra chromosome 21 … have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing …
Educational Resources
A birth defect is an abnormality present at birth.
… Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing …
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.
… into existing learning health systems. As genomic testing becomes increasingly common, more and more genomic … of genomic medicine. These could include implementing testing for hereditary diseases or using genomic information … of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… medical, social and ethical decisions surrounding genetic testing. Provide support and information to help a person make a decision about testing. Interpret the results of genetic tests and medical … a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist …