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News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… by sickle cell disease experience significant pain and anemia as well as damage to their hearts, lungs and kidneys. …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… manifestations of DADA2 such as liver disease, severe anemia and skin rashes. The 2014 studies also raise the …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… J. Pavan, Ph.D., (NHGRI) Mouse Model of Diamond-Blackfan Anemia DHHS Reference No.: E-294-2012 Lead Inventor: William …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… related to environmental factors include uncommon types of anemia caused by vitamin-deficient diets or certain …
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 …
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 …
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… hemoglobin gene, a gene known for its role in sickle cell anemia, is associated with greater amount of blood glucose …
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 …
Talking Glossary
“Autosómico recesivo” se refiere a un patrón de herencia característico de algunos trastornos genéticos.
… gene from one parent to cause the disorder. Sickle cell anemia is an example of an autosomal recessive genetic …