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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.
… red blood cells take a sickle shape, blocking blood flow and decreasing oxygen delivery. Little is known about … and the blood cells in Sickle cell disease, which do not flow through the circulatory system smoothly. Credit: Darryl …
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).
… of the walls of the blood vessels, hindering blood flow to the brain and resulting in strokes. The treatment … in the wals of the blood vessels, hindering blood flow to the brain and result in strokes. Image Credit: Darryl …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… be caused by the forward growth of the ribs reducing the flow of blood. A malformation of the subclavian arteries … susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly. Additional …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… the blood stream, reaches the lungs and stops blood flow. While people who experience pulmonary embolism may not … blood cells to become rigid and sticky, which blocks blood flow. While people with sickle cell trait typically do not …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… that codes for abnormal hemoglobin, which affects blood flow and causes pain, fatigue and other symptoms. Patients …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… (Econsults) are made through EHR (EPIC) though a work flow that integrates within the normal clinicalworkflow and …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… name - sickle cell anemia. The sickle cells also block the flow of blood through vessels, resulting in lung tissue …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… beginning urination or even an inability to urinate. The flow of urine can start and stop, be weak, or create pain or …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… the arteries less flexible and more difficult for blood to flow leading to heart attack and stroke. The first step in …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… be inserted in your vein. During collection, stem cells flow into a bag, and the rest of your blood returns to your …