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Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The progressive expansion … Organization for Rare Disorders Genetic and Rare Disease Information Center Finding Reliable Health Information Online …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics 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 …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… Advances in genomics are helping you access information about your genome from your home. … Did you know … was valued at $117 million in 2017, suggesting millions of people are purchasing these tests. In contrast to clinical … out that family members who they previously thought were genetic relatives were actually not biologically related  to …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… A major goal of human genetics is to decompose the sources of trait … about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These issues have …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, … known as von Recklinghausen's NF, is the more common of the types. It occurs in approximately 1 in 4,000 births. … the mutation analysis does not provide enough conclusive information. With at linkage analysis, blood tests from …
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 … OI type II) to average. There are four well-known types of OI. These types are distinguished mostly by fracture …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies … National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding Reliable Health Information Online …
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 … optical methods allow us to profile the molecular features of cells at scale. What’s needed, technically or … Associate Professor, Cognitive & Information Science University of California, Merced  …
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 much of the mineral copper. Over time, the extra copper can lead … Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… Global Health (CRGGH) facilitates a global understanding of the relationship between human genetic variation and population differences in disease … … CRGGH does not keep names and e-mail addresses. This information is only used to respond to questions and then is …