First identified in 1999, RUNX1-FPD (also known as RUNX1-FPDMM or FPD-AML) is a rare inherited (germline) Inherited (germline): A genetic change that is present in a person’s egg or sperm cells before conception and passed down from parent to child, meaning it is present in every cell of the body from the very beginning of life. condition caused by a variant or mutation Variant or mutation: A change in the DNA sequence of a gene that can affect how that gene works. in the RUNX1 gene. This change can be passed from one generation to the next.

Because the RUNX1 gene helps make healthy blood cells, this change can lead to lower platelet counts Platelets: Tiny cell fragments in the blood that help stop bleeding, repair damaged blood vessels, and send signals that support the body’s healing and immune responses. and platelets that don’t work as well as they should. People with RUNX1-FPD may bruise easily, have frequent nosebleeds, or bleed longer than usual after injury or surgery.

The condition can vary greatly between families and even among family members. Some individuals never develop blood cancer Blood cancer: A disease where some blood-forming cells grow out of control or don’t develop properly. These abnormal cells take over the bone marrow, leaving less room for healthy cells that the body needs to fight infection, carry oxygen, and stop bleeding. while others may develop myelodysplastic syndrome (MDS) Myelodysplastic syndrome (MDS): A blood cancer that starts when the bone marrow makes blood cells that don’t grow or work properly. Over time, these abnormal cells can replace healthy ones, leading to anemia, infections, or easy bleeding. In some people, MDS can stay stable for years, while in others it can turn into acute myeloid leukemia (AML). or more commonly acute myeloid leukemia (AML) Acute myeloid leukemia (AML): A serious, fast-growing blood cancer where blood-forming cells in the bone marrow develop abnormally and multiply too quickly. These abnormal cells crowd out healthy cells that the body needs to carry oxygen, fight infection, and stop bleeding. – the two main types of blood cancer seen in this condition.

People with RUNX1-FPD can also experience health issues such as asthma, allergies, autoimmune disorders, or gastrointestinal problems. Because symptoms can resemble other conditions, many families spend years seeking answers before receiving a correct diagnosis, which can only be confirmed through genetic testing Genetic testing: A medical test that looks at a person’s genes using samples such as blood or skin to see if there are any changes that could help explain a health condition or confirm a diagnosis. .

The RUNX1 Research Program was founded by the Babich family after their own diagnosis to connect others living with this rare condition and accelerate research that improves care. Today, RRP brings together patients, researchers, and clinicians to support families, advance understanding of RUNX1-FPD through research, and drive progress toward blood cancer prevention and intervention.