What is RUNX1 FPD/AML in simple terms?

RUNX1 FPD/AML is familial platelet disorder with a predisposition to acute myeloid leukemia characterized by platelet defects and a germline heterozygous RUNX1 alteration.

What is a RUNX1 alteration/mutation?

A RUNX1 mutation is a permanent alteration in the DNA sequence that makes up the RUNX1 gene, such that the sequence differs from normal.  Mutations of the RUNX1 gene are one of the most common gene mutations associated with an individual ultimately developing leukemia. 

How can I get screened to know if I have RUNX1 FPD/AML?

Blood tests are used to determine whether you have the disorder. Your hematologist/oncologist will ask you about symptoms and family history and then can extract either blood or bone marrow to have it sequenced to determine whether you have the RUNX1 gene mutation. Frequently, but not always, those with RUNX1 FPD/AML have lower-than-average platelet counts as well as lowered platelet function. One may experience more bruising than normal, slower blood clotting, and females can have heavier periods.

How does the inherited RUNX1 mutation develop into AML?

Over one's lifetime, secondary mutations in the bone marrow cells develop and evolve.  

What is AML?

AML is acute myeloid leukemia (also known as acute myelogenous leukemia or acute nonlymphoctyic leukemia), a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. AML is the most common acute leukemia affecting adults and accounts for roughly 1.2% of cancer deaths in the United States.

What treatments are currently available for AML?

At the present time the most affective treatments are stem-cell or bone-marrow transplants. Please contact your hematologist/oncologist for further information.

What are the chances that any one child of mine could inherit my RUNX1 disorder?

The pattern of inheritance for RUNX1 FPD/AML is likely to be autosomal dominant, meaning the gene in question is located in one of the numbered (non-sex) chromosomes and that a single copy of the disease-associated mutation is sufficient to cause the disease. Therefore, a RUNX1 parent has a 50% chance of having a child with the condition with each pregnancy. If a sibling has the disease, this does not increase the likelihood of the other sibling having it also. Children who do not inherit the abnormal gene will not develop nor pass on the disease.

What is the RUNX1 Research Program?

The RUNX1 Research Program is a non-profit organization committed to finding a cure for RUNX1 FPD/AML and to support patients in the RUNX1 community by providing a forum in which to help connect, inform and educate patients on the disorder. In addition to providing grants for relevant research projects, the program hopes to build public awareness, educating both patients and healthcare providers on the latest research regarding the disorder. The program was created by The Babich Family Foundation, a foundation dedicated to advancing areas of research of particular importance to families affected by RUNX1 FPD/AML.

We have partnered with the renowned childhood cancer foundation, Alex’s Lemonade Stand Foundation (ALSF), to raise awareness and accelerate research. ALSF is committed to creating opportunities for new and innovative research into treatments and cures for childhood cancers. The Babich Family Foundation/RUNX1 Research Program is also partnering with The Leukemia and Lymphoma Society (LLS) to launch a competitive grant to advance the understanding and treatment therapies of familial RUNX1 mutations leading to AML.

How can I help the RUNX1 Research Program?

You can like us Facebook, join our community, and spread the word to the medical community and friends and family who may have RUNX1 FPD/AML. You can also help our research on the disease by getting screened for our anonymous worldwide repository, helping us to find a cure for the disease, when that aspect is up and running. You can also contribute financially toward research projects aimed at finding a cure. We also welcome financial contributions which go toward funding research projects. 100% of donations go toward funding research, with administrative costs covered by The Babich Family Foundation.

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