Search Results
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, … Neurofibromatosis (NF) 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. …
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 humans and other organisms and disease mechanisms. … that research findings and opportunities derived from genetic and genomic technologies may be translated into …
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 … 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 born with … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … and are at high risk for developing certain types of cancer, and mental disability. The term "WAGR" stands for …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… Teams of scientists will use support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how … effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating …
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 … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … Wilson disease causes a person's body to store too much of the mineral copper. Many foods contain copper, and it is …
About NHGRI
The Genomics and Society Working Group advises on planning and priorities for genomics and society activities at NHGRI.
… Working Group was established in 2012 as a working group of the National Advisory Council for Human Genome Research (NACHGR). The mission of the Genomics and Society Working Group is to provide to … on the ELSI Research Program in the NHGRI Division of Genomics and Society. The Genomics and Society Working …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals  What is … are genetic tests sold directly to consumers to provide information about their genetic information (generally … health risks) from a saliva sample. Ordering and return of results for DTC-GT typically does not involve health care …
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 theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between the American Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the colloquium is to showcase the depth and breadth of …