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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… and rare diseases … Genetic Disease, Rare Disease, Gene Therapy, Diagnosing A Disease, DNA Sequence, Genome …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… Disorder, Genetic Disorder, Genetic Condition, Gene Mutation … Attention Deficit Hyperactivity Disorder …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… isolated methylmalonic acidemia have mutations in the MUT gene. This gene provides instructions for making an enzyme called … certain lipids, and cholesterol. Mutations in the MUT gene alter the structure or reduce the amount of the enzyme, …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a new change due to an error carried by … with Noonan syndrome have mutations in the PTPN11 gene. Twenty percent of those with Noonan Syndrome have …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This protein … harboring mutations identified in each family, only the gene MYMK was common to all three. A knockout mouse model … (genomically altered mice that are bred to lack a specific gene) displayed a complete lack of muscle development, …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… large scale changes such as duplications or deletions. Gene expression tests analyze mRNA and can identify over- or under-expression of certain genes, which affects what proteins are …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… into two classes: those that are associated with a single gene and those that are influenced by multiple genes and … inherited diseases can be traced to variants in a single gene. Cystic fibrosis, a progressive genetic disease that … fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. Each small “v” represents a genomic …
Healthcare Provider Genomics Education Resource
This FAQ was designed to answer questions regarding how nurses integrate genomics into their education and practice.