Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… a person's ability to produce hemoglobin, resulting in anemia. … Thalassemia is actually a group of inherited … a person's ability to produce hemoglobin, resulting in anemia. Hemoglobin is a protein in red blood cells that … have milder forms of the disease, with varying degrees of anemia. The most severe form of alpha thalassemia, which …
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… fellowships from both the NIH and the Cooley's Anemia Foundation. More recently, Dr. Bodine received the … of this process cause a variety of disorders ranging from anemia to hematologic malignancies. One of the Hematopoiesis … small molecules or compounds that could be used to treat anemia. The Hematopoiesis Section also studies erythropoiesis …
Sickle cell disease is a group of inherited red blood cells disorders.
… rapidly in the bodies of people with the disease, causing anemia. This anemia is what gives the disease its commonly known name - sickle cell anemia. The sickle cells also block the flow of blood through …
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… (hepatosplenomegaly). A low number of red blood cells (anemia). Easy bruising caused, in part, by a low level of … Gaucher disease include bone disease, hepatosplenomegaly, anemia and thrombocytopenia, and lung disease. The symptoms … GBA, Mutations, Liver, Spleen, Hepatosplenomegaly, Anemia, Thrombocytopenia, Bone Pain, Fractures … Gaucher …
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… anus and rectum called fistulas; nutritional deficiencies; anemia; arthritis; skin problems; kidney stones, gallstones … bleeding may be serious and continuous enough to cause anemia (low red blood count). Children who have Crohn's … a series of tests. Blood tests may be done to: Check for anemia. Check for a high white blood cell count and …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… lung, bladder, and breast; melanoma, and Fanconi anemia. These research efforts are conducted both … with profound cancer susceptibility, such as Fanconi anemia. Conducts individual and consortium-based …
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… are centered on the genetics and genomics of Fanconi anemia (FA). He employs novel approaches to study the … expression . In 2009, CGU switched its focus to Fanconi anemia (FA), a rare recessive disorder characterized by … clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma. Arch …
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 …
Cell Press' "Best of AJHG 2017-2018" includes an article authored by CRGGH researchers Daniel Shriner and Charles Rotimi.
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.