Fernanda Guttierez-Rodrigues, PhD

The most serious complication for people with severe 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… (SAA) after receiving immune-suppressive treatment, with or without the drug eltrombopag eltrombopag: What are the possible side effects of eltrombopag (Promacta)? Get emergency medical help if you have any of these signs of an allergic reaction: hives; difficult breathing; swelling of your face, lips, tongue, or throat. Stop using eltrombopag and call your doctor at once if you have: … , is developing certain blood cancers called myeloid neoplasms (MN). These cancers are difficult to treat and often have poor outcomes. Another possible complication is developing 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), a disease that requires life-long treatment and adds to the patient's health burden and medical costs. Our recent research has found certain genetic patterns in blood cells linked to SAA onset thar can promote the development of MN or PNH many years after immunosuppressive treatment. Although these genetic changes often start at the time SAA starts and can be detected at diagnosis, only the patterns seen six months after treatment were able to predict whether a patient has a higher risk to develop a cancer or PNH in the future. It is still not clear how the immune system and bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. recovery after treatment affect the risk of developing these late complications.
Right now, there are no good ways to identify which SAA patients are at high risk for these compli-cations, or to tailor monitoring and treatment to each individual from the time of diagnosis. To address this gap, we plan to use advanced genetic testing (single-cell whole genome sequencing) to trace the history and development of abnormal genetic changes in blood cells in SAA patients that lead to late complications. This will help us understand how and when harmful changes occur, from before symptoms appear, through treatment, and years later. We will use clinical information and bone marrow samples collected over more than ten years from patients with SAA enrolled in our clinical trial clinical trial: A type of research study that tests how a drug, medical device, or treatment approach works in people. There are several types of clinical trials. Treatment trials test new treatment options. Diagnostic trials test new ways to diagnose a disease. Screening trials test the best way to detect a… , whether they remained cured from SAA or developed late complications.
This project is unique because it will allow us to identify the genetic events that drive disease progression in an unbiased way, and to understand the factors that influence how blood cells change over time in people with SAA. By identifying early genetic warning signs in blood cells, we hope to predict which patients are at risk for serious complications and to develop personalized treatment strategies in the future.