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Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… families learn about how conditions such as sickle cell anemia and cystic fibrosis are inherited in families, what …
Talking Glossary
La terapia génica es una técnica en la que se emplean uno o más genes para tratar, prevenir o curar una enfermedad o trastorno médico.
… enfermedades genéticas hereditarias (como hemofilia y anemia de células falciformes) y también trastornos …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… intellectual and physical disabilities, pancreatitis, anemia, seizures, vision loss and strokes. The most common …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… of SCD symptoms. "Scientists identified sickle cell anemia in 1910, but there is still much to learn about the …
… por la enfermedad de células falciformes padecen de anemia crónica y experimentan un daño significativo al …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… gene from one parent to cause the disorder. Sickle cell anemia is an example of an autosomal recessive genetic …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… included some well-known conditions, such as sickle cell anemia, cystic fibrosis and Marfan syndrome, as well as many …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Syndrome) Haploinsufficiency of A20 (HA20) Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers and …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… other diseases. These were conditions, such as sickle cell anemia, which have very simple, predictable inheritance …
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.
… A low level of red blood cells, which is called anemia Low levels of white blood cells Low levels of clotting …