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  1. Top expert calls future MDS/AML care “promising”

    ... about this. Let’s say you have a very particular mutation that happens in 1% or 2% of the patients with this disease. ... “OK, this is exactly what the patient has, this is the mutation that the patient has, etcetera.” Then, maybe you work with the ...

    Article last updated 11/02/2016 - 11:28am.

  2. Alina Dulau Florea, MD

    ... (PNH). In this condition, due to a gene mutation , some bone marrow cells and their progeny in the blood lack an ... swallowing, or develop blood clots. The cause of the gene mutation is unknown. Some patients with other conditions, such as aplastic ...

    Grant Recipient last updated 01/12/2018 - 9:50am.

  3. MDS Rounds: An AAMDSIF Visiting Faculty Program

    ... relationship between clinical symptoms and genetic mutation profiles. •    During the past decade, extensive research ...

    Page last updated 01/24/2018 - 2:05pm.

  4. Jeffrey Pu, MD, PhD

    ... stem cell (HSC) acquiring a PIG-A gene mutation . PIG-A mutations lead to the absence of ... a better response to immunosuppressive therapy; 3) PIG-A mutation significantly increased in some human cell lines with genomic ... at progenitor level and are transient. The PIG-A mutation frequency in MDS patients harboring PNH-like cells were 10 to 100 ...

    Grant Recipient last updated 10/01/2013 - 1:51pm.

  5. Kim-Hien T. Dao, DO, PhD

    ... from patients who inherit a loss-of-function mutation in one of the genes of the Fanconi anemia pathway are ... cells from patients who inherit a loss-of-function mutation in one of the genes of the Fanconi anemia pathway are ...

    Grant Recipient last updated 10/01/2012 - 10:46am.

  6. Clinical and Genetic Heterogeneity of Telomere Diseases

    ... for in all patients. Interestingly, a telomere gene mutation may be found in patients who seem to have a primary immune defect, ... of the genetic abnormality suggesting that finding a genetic mutation should not preclude such treatment. ...

    Research Review last updated 05/02/2016 - 9:24am.

  7. Rosannah Cameron, PhD

    ... mutations. Our research involves using zebrafish with a mutation in a key splicing factor, sf3b1, to look at what happens to ... cells to further mutations. Our zebrafish have a mutation in a key splicing factor, sf3b1 (splicing factor 3b, subunit 1), ...

    Grant Recipient last updated 08/16/2016 - 1:17pm.

  8. PNH - Basics

    ... PIG-A Gene Mutation PNH occurs because of a genetic change ( mutation ) in the PIG-A gene of a single stem cell in your bone ...

    Topic section last updated 04/05/2016 - 4:02pm.

  9. A Phase 1, Multicenter, Open-Label, Dose-Escalation and Expansion, Safety, Pharmacokinetic, Pharmacodynamic, and Clinical Activity Study of Orally Administered AG-120 in Subjects with Advanced Hematologic Malignancies with an IDH1 Mutation

    ... in advanced hematologic malignancies that harbor an IDH1 mutation . Status:  ...

    Clinical Trial last updated 02/22/2017 - 11:21am.

  10. A Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Who Have an Inadequate Response to Eculizumab

    ... limit of normal (ULN) and/or the presence of a known C5 mutation conferring resistance to eculizumab   ...

    Clinical Trial last updated 04/20/2017 - 11:14am.