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15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… genetic testing, such as for a condition like Down syndrome, had to undergo invasive procedures to get a fetal … an abnormal number of chromosomes, such as a trisomy. Down syndrome is a trisomy of chromosome 21, and NIPT for detecting Down syndrome and other chromosomal abnormalities is being widely …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental disability, learning … tone (hypotonia) in infancy. An individual with Down syndrome has three copies of chromosome 21 rather than two; … in which an individual lacks a chromosome, is Turner syndrome. In Turner syndrome, a female is born with only one …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21, instead of the … Males with more than one X chromosome have Klinefelter syndrome, which is a condition characterized by tall stature and, often, impaired fertility. Another syndrome caused by imbalance in the number of sex chromosomes …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… by abnormal imprinting. They include Beckwith-Wiedemann syndrome, a disorder associated with body overgrowth and increased risk of cancer; Prader-Willi syndrome, associated with poor muscle tone and constant hunger, leading to obesity; and Angelman syndrome, which leads to intellectual disability, as well …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… example of such an adverse reaction is Stevens-Johnson syndrome (SJS), a severe allergic reaction also called "scalded skin syndrome." It can be caused by infections, but also by very …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… is at heightened risk for genetic disorders, such as Down Syndrome and spina bifida. The emergence of statistical …
Lesson Plans
The microbiome lesson plans were inspired by lectures and resources on the microbiome offered at the National Human Genome Research Institute’s (NHGRI) Short Course in Genomics.
… Exploring the Microbiome and Its Connection to Metabolic Syndrome Waqar Kazmi, M.A. Biology Department Northern …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… there are a few examples of inherited cancers like Lynch syndrome (also known as hereditary non-polyposis colorectal …
15 Ways Genomics Influences Our World
Genomics is helping us understand what makes each of us different and what makes us the same.
… Man," is thought to have had a disease called Proteus syndrome, which causes overgrowth of skin or other tissues. … showed that mutations occurred in the gene AKT1 in this syndrome. Each person with the syndrome does not look the same because they have different …
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
… Branch, where she studied the genetic origins of Proteus syndrome. "Being at NIH was a dream," she said. "I was …