AAMDSIF Awards 2019-2021 Grant to Children’s Hospital of Boston Researcher
One of two 2019-2021 two-year research grants of $30,000 per year has been awarded to Elissa Furutani, MD, of Children's Hospital of Boston, for her proposed research project, Risk stratification for genetic causes of 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… . Support for this grant was generously provided by The Julia Malsin Research Fund.
Research Project Summary:
We propose a multi-institutional study of children and young adults presenting with Severe Aplastic Anemia (SAA). We will study patients’ medical records and run genetic testing to look for inherited causes of aplastic anemia to describe how often patients with SAA have an inherited disorder. We will describe which patients are at a higher risk of having such an inherited disorder and therefore which patients would benefit from undergoing genetic testing. As part of this research effort we may also be able to discover new genetic causes of aplastic anemia as well.
“We’re pleased to be able to offer this research grant to Dr. Furutani”, said Neil Horikoshi, AAMDSIF’s CEO and Executive Director. “This research project is aligned with an important part of our mission – being part of the solution for research and eventual cures for aplastic anemia.”
This AAMDSIF Research Grant is supported by the Julia Malsin Research Fund, established by Heather and Michael Malsin in memory of their daughter, Julia, who lost her battle against aplastic anemia.
“Throughout her year long illness, Julia inspired countless people, those who knew her and many who never had the opportunity to meet her, through her grace and courage. Julia passed away on January 27, 2012 following complications from her bone marrow transplant. Our hope is that with continued research and funding, one child’s life may be saved and one family will not have to endure the pain and suffering that aplastic anemia brought into our lives. Her story continues to inspire others and her legacy continues through what has become known as the Julia Effect.”
About AAMDSIF
The Aplastic Anemia and MDS International Foundation (AAMDSIF) is the world's leading nonprofit health organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndromes myelodysplastic syndromes: (my-eh-lo-diss-PLASS-tik SIN-dromez) A group of disorders where the bone marrow does not work well, and the bone marrow cells fail to make enough healthy blood cells. Myelo refers to the bone marrow. Dysplastic means abnormal growth or development. People with MDS have low blood cell count for at… (MDS), 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), and related 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. AAMDSIF provides answers, support and hope to thousands of patients and their families around the world.
Over the past 31 years, AAMDSIF has provided over 5 million dollars in financial awards to researchers for investigation that leads to new insights into the causes and treatment of bone marrow failure disease and the development of new therapeutic approaches.