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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 … aeruginosa. Gene Database Speeds Research As the amount of information about CF grows, scientists have recognized the … a sample of blood or saliva - is to see if a couple is at risk for giving birth to a child with CF. Carrier testing is …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of … that research findings and opportunities derived from genetic and genomic technologies may be translated into … and clinical research, bringing the latest genomic and genetic technologies to the study of human disease. Our …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too … disease are given lower doses of these drugs to reduce the risk of having a baby with birth defects. Lower doses also … Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases …
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 … or no apparent trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … by a medical team including the child's own doctor, and genetic, orthopedic and rehabilitation medicine. Supportive …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… Information processing in the brain is done by specialized … Every neuron has a long process, an "axon", that carries information to its synaptic partners. Dr. Giniger's lab seeks … Publications … Edward S. Giniger, Ph.D. … Edward Giniger, information processing, neural circuits, neurons, nerve cells …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?   Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … Associate Professor, Cognitive & Information Science University of California, Merced   …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the … causal sequence variants in DNA from inherited cells of at-risk individuals, in human tumor genomes and in the genomes … primary focus of CGCGB investigators is to identify the genetic contribution to the processes of cancer …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… a global understanding of the relationship between human genetic variation and population differences in disease … health disparities. Its investigators will develop genetic epidemiology models that will explore the patterns … … CRGGH does not keep names and e-mail addresses. This information is only used to respond to questions and then is …
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
… 2 Diabetes Heart Disease How to Use the Families SHARE Risk Algorithm   … Families SHARE Workbook: English Families … Creole   … Below are links to the Families SHARE disease risk worksheets. The worksheets will help you work out family … health history. After you finish a worksheet, share the information with your family members! Below are also Families …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one … human genetics and genomics research community. For more information on ASHG, visit their website . …   NHGRI is … diseases; using family health history to assess risk; and assessing clinical outcomes and amassing evidence …