RUNX1 Familial Platelet Disorder (RUNX1-FPD) is a hereditary blood disorder caused by mutations in the RUNX1 gene.
Individuals who are born with an error, called a mutation, in the gene RUNX1 are at heightened risk for developing blood cancers. Most experience low platelet counts (thrombocytopenia) and low-functioning platelets. Patients’ average lifetime risk of blood cancer is approximately 50% (actual range 11-100%; median, 44%). The most commonly developed blood cancer is acute myeloid leukemia (AML), the second deadliest of all blood cancers.
About the RRP
Founded in 2015, we are a research and advocacy venture committed to funding world-class, innovative and cross-disciplinary cancer research to find a cure for those with germline RUNX1 mutations. We have made it our goal to support, inform, educate and connect patients and healthcare providers in the RUNX1 Community.
Meet some of our former and current grantees and learn about their research and achievements.
Dr. Mortimer Poncz
Dr. Poncz and his team propose to enhance RUNX1 levels with the target of correcting the platelet problem, expecting that correction will also correct the risk of getting leukemia.
Dr. Anupriya Agarwal
Dr. Agarwal has performed genetic sequencing and identified 16 patients with AML who have inherited RUNX1 mutations as well as additional mutations in known cancer-causing genes.
Dr. Guy Sauvageau
Dr. Sauvageau discovered that a class of steroid hormones called glucocorticoids selectively inhibits the growth of acute myeloid leukemia (AML) cells containing RUNX1 mutations in cell culture.
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Support Our Cause
The RUNX1 Research Program aims to increase awareness of RUNX1-FPD among both the general public and medical community.
100% of your donation goes toward funding groundbreaking research, with all administrative costs covered by the RUNX1 Research Program.
Breaking New Ground
The NIH has just initiated the first-ever longitudinal natural history study of RUNX1-FPD patients, with the aim of better understanding the clinical features of the disease, how these may relate to the different germline mutations and why some patients progress to blood cancer while others do not. This is a groundbreaking study, and essential in our effort to find a cure.