Grants and Grant Recipients
Grant Year: 2013
Aplastic anemia
Aplastic anemia:
(ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most…
and Paroxysmal
Nocturnal
Hemoglobinuria
Hemoglobinuria:
(hee-muh-gloe-buh-NYOOR-ee-uh) The presence of hemoglobin in the urine.
(PNH) are two serious blood disorders that share one
important feature: the
bone marrow
bone marrow:…
Progress in understanding the
etiology
etiology:
The cause or origin of a disease.
and effective treatment of MDS is currently hampered by the scarcity
of tools to study this disease. Our goal
is to harness cutting-edge human pluripotent stem cell and genetic
engineering technologies to establish
new models of an MDS subset characterized by loss of chromosome 7 material and
use them as a novel platform to identify genes on chromosome 7 that are
critical for this disease. These models
should provide a powerful resource to the MDS community to investigate the cell
biology, molecular…
Currently
aplastic anemia
aplastic anemia:
(ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most…
is treated
with
immunosuppressive therapy
immunosuppressive therapy:
Immunosuppressive drug therapy lowers your body's immune response. This prevents your immune system from attacking your bone marrow, allowing bone marrow stem cells to…
Grant Year: 2012
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria:
(par-uk-SIZ-muhl nok-TURN-uhl hee-muh-gloe-buh-NYOOR-ee-uh) A rare and serious blood disease that causes red blood cells to break apart. Paroxysmal means sudden and irregular. Nocturnal means at night. Hemoglobinuria means hemoglobin in the urine. Hemoglobin is the red part of red blood cells. A…
(PNH) is a disorder in which
bone marrow failure
bone marrow failure:
A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are…
Acquired
bone marrow failure
bone marrow failure:
A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be…
diseases include myelodysplastic
syndrome (MDS), acquired
aplastic anemia
aplastic anemia:
(ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white…
The
genes responsible for MDS initiation are largely unknown. Recently, a group of
genes that are important for splicing together RNA in cells were found to be
mutated in up to 57% of MDS patients. How these mutations contribute to MDS
initiation is unknown. We will determine whether a
mutation
mutation:
Any change or alteration in a gene. A mutation may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because of a mutation in the PIG-A gene of a single stem cell in the bone marrow.
in one of these
genes (U2AF1) affects blood cell…
Dr. Yang's project is Structural insights into deregulated epigenetic mechanisms and DNA demethylation in MDS. The exciting new discovery of frequent Tet2
mutation
mutation:
Any change or alteration in a gene. A mutation may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because of a mutation in the PIG-A gene of a single stem cell in the bone marrow.
in a wide range of myeloid malignancies including
myelodysplastic syndromes
myelodysplastic syndromes:
(my-eh-lo-diss-PLASS-tik SIN-dromez) A group of disorders where the bone…
Grant Year: 2011
Dr. Dao will investigate why the blood
stem cells
stem cells:
Cells in the body that develop into other cells. There are two main sources of stem cells. Embryonic stem cells come from human embryos and are used in medical research. Adult stem cells in the body repair and maintain the organ or tissue in which they are found. Blood-forming (hemapoietic) stem…
from patients who inherit a loss-of-function
mutation
mutation:
Any change or alteration in a gene. A mutation may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because…
Dr. McCrae's study explores why patients with PNH are at increased risk for the development of
thrombosis
thrombosis:
(throm-BOE-suss) A blood clot (thrombus) that develops and attaches to a blood vessel.
, or blood clots, that may affect arteries or veins and cause events such as pulmonary emboli or stroke.