RUNX1: A gene that all humans have that is critical for the development of the blood system. The protein produced by this gene is also called RUNX1 and not only plays a role in maintaining a healthy blood system, but is also an important protein in other organ systems.
Mutation: A change in the DNA that increases health risks, also referred to as a likely pathogenic or pathogenic variant by geneticists.
RUNX1-FPD: A genetic disorder caused by germline mutations in the RUNX1 gene. These mutations are typically present in all the cells of the body and can be passed down from generation to generation.
Germline: Refers to the DNA that an individual is born with in all cells of their body.
RUNX1-FPD Patient (also referred to as Individual with RUNX1-FPD): For the purposes of this study, an individual who meets any of the following conditions:
Has a confirmed germline RUNX1 mutation that has been classified by genetic testing as a variant of uncertain significance (VUS), likely pathogenic (likely to cause disease), or pathogenic (known to cause disease); and/or
Is a parent or legal guardian of a RUNX1-FPD patient who has the authority to respond on the patient’s behalf; and/or
An individual or parent/legal guardian who suspects they have a germline RUNX1 variant because they meet the following conditions:
(a) ITP diagnosis themselves or at any point in their lives, diagnosis of thrombocytopenia (low platelets), dysfunctional platelets, and/or medical history of easy or prolonged bleeding, or blood clots; and/or
(b) 1 (one) or more family members with a heme malignancy and/or a family member with a heme malignancy and a RUNX1 mutation; and/or
(c) 1 (one) or more family members with an ITP diagnosis, or a diagnosis of thrombocytopenia (low platelets), dysfunctional platelets, and/or a medical history of easy or prolonged bleeding, or blood clots.
RUNX1 participant or YOU: Refers to the RUNX1-FPD patient or family member considering participation in the RUNX1 Patient Tissue Bank.
Study team: The individuals* developing the RUNX1 Patient Tissue Bank with access to the information submitted within it. This includes:
Individuals with full access to view and modify the study, and to view all data, including patient identifiers.
The Principal Investigator (Dr. Ximena Jordan-Bruno) and the Associate Investigators (Dr. Martin Carroll, Dr. Katrin Ericson & Dr. Amanda Eggen)
A data coordinator, a research coordinator and three designated genetic counselors.
*Note that these individuals will be highly vetted and will complete stringent human subject protections training annually to ensure they uphold the highest ethical standards and care with data and identity.
External study partners: Scientists, doctors, genetic counselors, and others with limited access to the RUNX1 Patient Tissue Bank that ONLY offers the ability to view and analyze data without patient identifiers.
De-identified: Information is de-identified when any elements that could identify the person(s) whose information it is are removed. This includes names, geographic locations smaller than a state (e.g., address, city, postal code), birthdate, hospital admission date, email address, etc.
The Genetic Alliance Institutional Review Board (IRB): An independent group of individuals familiar with ethics and related regulations that ensures the protection of rights and privacy of research participants. They reviewed this study and will continue to review any changes made in the future. You can learn more here: https://geneticalliance.org/irb or contact them by email at irbadmin@geneticalliance.org.
Research Guided by Patients Committee (RGPC): A committee that includes patients, caregivers, clinicians, and researchers dedicated to developing RUNX1-FPD research centered around patients’ defined priorities and preferred outcomes. The RGPC advises RRP-related activities, including this study.
Phlebotomy: The process of making a small puncture in a vein, usually in the arm, to draw blood. This common medical procedure is often done to collect blood samples for testing, to diagnose health conditions, or to donate blood.
Bone marrow aspirate: A medical procedure where a small amount of liquid bone marrow is removed using a needle. The marrow is usually taken from the hip bone. It's done to examine the types of cells in the bone marrow and can help diagnose and monitor blood and bone marrow diseases.
Bone marrow biopsy: Similar to a bone marrow aspirate, however, this procedure involves removing a small, solid piece of bone marrow tissue, also typically from the hip bone. The biopsy helps doctors diagnose, stage, and monitor diseases and conditions that affect the marrow and its ability to produce blood cells.