Grants and Grant Recipients
Grant Year: 2023
Autoimmunity and immunodeficiency can coexist. Inborn errors of immunity are a heterogeneous group of genetic disorders in which the immune system is disturbed, not only affecting its ability to combat pathogens, but also to trigger autoimmunity. Despite early-onset and severe disease being expected for these disorders with the advent of modern DNA sequencing technologies, an increasing number of adult-onset errors of immunity has been identified. With this proposal, we aim to assess the presence of inherited gene variants predisposing to immunodeficiency as determinants of PNH and AA. First…
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 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…
(AA), the prototypical
bone marrow
bone marrow:
The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow.
(BM) failure syndrome, is caused by immune-mediated destruction of hematopoietic stem/progenitor cells…
This research project aims to understand the biology and genetics of the disease myelodysplastic syndrome (MDS) in young patients. MDS is normally a disease of older persons (70+), and this study aims to determine the genetics and biology of MDS in patients diagnosed between the ages of 18 and 40 years old. MDS in young people is a distinct population with a lot of different genetic problems causing illness, most being related to the cell's repair of DNA and parts of the
chromosomes
chromosomes:
The part of the cell that contains our DNA or genetic code.
. Autoimmune and…