| 2025 X-Out Blood Cancer Campaign Extended Through June 12th! |
Thanks to your generosity, this year’s X-Out Blood Cancer Campaign is already making an incredible impact. Together, we’ve raised more than $29,000 to support eligible RUNX1-FPD patients needing assistance to participate in the first-ever RUNX1-focused clinical trials.
But we’re not done yet! While the campaign was originally set to end in May, we’re excited to announce a surprise extension through June 12th, giving us more time to reach our goal of $50,000. Plus our anonymous donor will continue matching every donation dollar for dollar, instantly doubling your impact! All funds raised through this year’s campaign help cover travel, lodging, and other critical costs for families who otherwise wouldn’t be able to participate in clinical trials.
These studies are a breakthrough for RUNX1-FPD, but only if patients can access them.
A $25 gift can help cover a ride to the clinic. $150 can offset the cost of one night’s lodging. Please consider giving a gift of any size today, and sharing these links with your network: |
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Thank you for helping us X-Out Blood Cancer! Your support means everything to the families who need it most. |
RUNX1 Patient Tissue Bank Launch & Upcoming Informational Webinar |
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Led by an RRP-funded team at the University of Pennsylvania, this project will give individuals with RUNX1-FPD the option to donate small samples of blood or bone marrow aspirate during routine medical appointments. These samples will be securely stored and used by approved researchers to: -
Explore new methods for early cancer detection.
- Improve quality of life for those with RUNX1-FPD.
- Contribute to prevention strategies for blood cancer.
Participation is simple: - Set up your Tissue Bank account online (we will share the link to do this at the webinar next week - see below!)
- Share your mailing address and the date of an upcoming clinical blood draw or bone marrow procedure.
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Receive a sample collection kit by mail and bring it to your appointment.
- Drop the prepaid return package at FedEx and you’re done!
All samples will be de-identified to protect your privacy, and participation is completely voluntary. |
Patients - Find out how you can contribute to advancing RUNX1-FPD research through the Tissue Bank at our webinar NEXT WEEK: |
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Introduction to the RUNX1 Patient Tissue Bank Webinar |
Tuesday, June 3
2:00 p.m. PDT • 5:00 p.m. EDT • 10:00 p.m. BST |
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Want to support RUNX1-FPD research without having to travel? Join us for an informative webinar introducing the new RUNX1 Patient Tissue Bank, led by Dr. Ximena Jordan Bruno and Dr. Martin Carroll from the University of Pennsylvania. This initiative makes it easier than ever for individuals with RUNX1-FPD and their family members to contribute to research. During the session, the study leads will explain: - Who can participate and how to enroll.
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How samples are collected during routine clinical appointments.
- How participation helps advance research on RUNX1-FPD, cancer risk, and prevention.
Click the button above to register today! |
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Register Today for the 2025 Virtual RUNX1 Scientific Conference or
RUNX1 Patient Meeting! |
Join us virtually this September as we explore “Navigating New Frontiers” in RUNX1-FPD science, innovation, and patient-centered care. More details to come on topics and presenters for both events. We’re excited to see you all again online this year!
Scientific Conference (Researcher & Clinician Focused)
Tuesday, September 9 • 8:30 a.m. – 2:00 p.m. PT
Wednesday, September 10 • 9:00 a.m. – 3:00 p.m. PT
This event features cutting-edge research presentations from RRP grantees and other experts across the field. Topics will include the latest findings on gene regulation, inflammation, immune response, and therapeutic development. View the full agenda and register here: |
Both days will also include a poster session for graduate students and postdocs. More information on how to apply coming soon! |
Patient Meeting (Patient & Family Focused) Friday, September 19 • 9:00 a.m. – 2:00 p.m. PT This virtual meeting will include a translation of key insights from the Scientific Conference into clear, patient-friendly discussions. It will also include presentations around clinical trial updates, wellness strategies, and lived experiences, all tailored to the needs and interests of RUNX1-FPD patients and families. Register to join us here:
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Congratulations to the 2025 ALSF-RRP Early Career Investigator (ECI) Grantee! |
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"Defining Epigenetic Vulnerabilities of Clonal Expansions in RUNX1-FPD Patients."
We're excited to announce that the recipient of the 2025 RRP-ALSF ECI Grant is Dr. Franco Izzo, from the Icahn School of Medicine at Mount Sinai. This grant awards funds for innovative research designed to discover therapeutics that would prevent high-risk patients from developing leukemia.
Dr. Izzo and his team are focused on understanding how clonal hematopoiesis (CH) develops and progresses in RUNX1-FPD. Using advanced single-cell sequencing technology, Dr. Izzo’s team will analyze patient blood and marrow samples to identify early molecular changes in cells with additional mutations, changes that may increase the risk of leukemia. This work aims to uncover therapeutic targets that could allow for earlier, more effective interventions while preserving healthy blood cell function. |
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Inflammation and Cancer: From Defense to Disease
The Link Between Chronic Inflammation and Cancer By: Dr. Katrin Ericson |
A growing body of research has shown a consistent connection between chronic inflammation and the development of cancer. In fact, it’s estimated that 15% to 25% of all cancers are linked to underlying chronic inflammatory conditions. You can think of chronic inflammation like a fire alarm that keeps blaring even after the fire is put out. |
We're always looking for relevant RUNX1 content to add to the blog. Would you like to contribute? If you’re interested in being a guest author, please contact Catherine Pelton at cpelton@runx1-fpd.org.
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Join Us For Our Next RUNX1 X-Change Discussion! |
Thursday, August 21
7:00 a.m. PDT • 10:00 a.m. EDT • 3:00 p.m. BST |
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We’re excited to continue our quarterly discussion forum, the RUNX1 X-Change, created exclusively for our patient community. Hosted by Amanda Eggen and Katrin Ericson, the X-Change offers a private, supportive space where individuals with RUNX1-FPD can connect, ask questions, and share personal experiences around a central theme. (The topic for this session will be announced closer to the date.) Whether you’d like to join the conversation or simply listen in, your presence is welcome and valued. This forum focuses on topics that matter most to the RUNX1-FPD community, with room for the discussion to shift based on participants’ interests and needs. Click the button above and register today!
P.S. Save these dates for future RUNX1 X-Change sessions: |
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Highlights from the RGPC Meeting: AI Innovation & Patient-Driven Research |
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At this month’s Research Guided by Patients Committee (RGPC) meeting, we heard from two research groups that are part of the Chan Zuckerberg Initiative–funded RUNX1 research project, a project that also includes RRP as the patient organization partner. Their work is helping to uncover new insights into how RUNX1 mutations affect blood cell function and behavior and how we might correct with existing drugs.
AI "Virtual Cells" for RUNX1-FPD
Yash Pershad, from Dr. Alex Bick's lab, shared how their team is using AI to simulate cell behavior and test potential treatments virtually. These AI "virtual cells" are trained on real patient data to help identify promising therapies. The team has already found small molecules that may shift RUNX1-affected cells toward a healthier state. Encouragingly, sirolimus was identified, which further validates the rationale for our ongoing clinical trial testing low dose sirolimus (check it out here).
Spatial Analysis of RUNX1-Affected Bone Marrow
Dr. Esther Obeng presented new findings from her spatial analysis of bone marrow samples from individuals with RUNX1-FPD. Her team is mapping how different cell types are organized within the bone marrow, revealing perturbed immune cell numbers as compared to healthy bone marrow. These insights are helping researchers understand how RUNX1 mutations affect the organization of the bone marrow and how the different cells within the bone marrow may be interacting to affect disease progression. Understanding this could lead to new treatment approaches or further support drugs that have been identified as potential treatments like imatinib or sirolimus.
Patient Partnership Driving Progress
Not only are patients sharing their blood and bone marrow samples by participating in research, but they are also part of discussing new results and future studies. This collaborative work exemplifies how patient participation is advancing scientific discovery and guiding therapeutic strategies for RUNX1-FPD. |
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Attention RUNX1 Patient Data Hub Participants: Have You Reconsented? | |
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If you have already contributed information to the RUNX1 Patient Data Hub (RUNX1 PDH) but haven’t yet retrieved your account on the new software (Matrix) and completed the new consent form, please take a moment to do so. Your reconsent and continued participation is critical to moving research forward, and helps ensure that your data can be included in ongoing and future studies.
Please click here to log in and complete the new consent form. It should only take you two minutes. If you’re not already participating, now is a great time to join this secure, patient-driven platform where individuals and families share their experiences to help improve care, inform clinical decisions, and support the broader RUNX1-FPD community. Eligible patients who complete the required surveys will receive a $50 gift card in appreciation of their time.
Please click here for more information and to get started.
Questions? Contact Dr. Amanda Eggen at aeggen@runx1-fpd.org. |
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Two Ways to Advance RUNX1-FPD Research in One Location |
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| Participating in research is one of the most meaningful ways to move science forward, especially when it comes to rare diseases. At the National Institutes of Health (NIH), two studies that can be done at the same time are currently enrolling eligible RUNX1-FPD patients: -
RUNX1-FPD Clinical Research Study (also known as the NIH Natural History Study) aims to help researchers understand why some individuals with RUNX1-FPD develop blood cancer while others don’t.
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Imatinib Clinical Trial is testing the safety and tolerability of the drug imatinib in RUNX1-FPD patients. Previous studies suggest imatinib could increase RUNX1 levels back to normal.
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Your participation can help researchers gather the critical data needed to improve diagnosis, guide treatment strategies, and pave the way for future therapeutic options. You may be eligible to join one or both studies, depending on your health history and interest. Here's why participation matters: - Access to Leading RUNX1-FPD Experts: The NIH team has evaluated more individuals with RUNX1-FPD than any other team in the world. You’ll receive in-depth care and testing guided by the latest scientific knowledge and decades of clinical experience.
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Personalized Health Information: Both studies include a thorough review of your medical history and specialized testing. Depending on your symptoms, the team may also coordinate additional consults (e.g., dermatology, immunology, gynecology) during your visit. They’ll also collaborate with your home providers if needed.
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Contribute to the Future of RUNX1-FPD Care:
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RUNX1 Clinical Research Study: aims to help researchers understand why some individuals with RUNX1-FPD develop blood cancer while others don’t by tracking natural disease progression over time.
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Imatinib Clinical Trial: testing the safety and tolerability of imatinib in RUNX1-FPD patients, with the goal of determining whether it can safely increase RUNX1 protein levels and support healthy blood cell development.
Every participant moves the field forward, whether by contributing long-term health data or testing a potential therapy.
Want to learn more or get started? Contact Dr. Amanda Eggen at aeggen@runx1-fpd.org, and she will introduce you to the study team.
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Stay current with the latest peer-reviewed studies in RUNX1-FPD science and clinical research!
The RUNX1 Radar tracks and shares newly published findings from across the field, including work from RRP-funded investigators and leading researchers worldwide.
Explore recent highlights from Science Translational Medicine, Blood Advances, The Journal of Clinical Investigation, Genes & Development, and more. |
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Clinician Referrals Welcome: Help Connect Patients to RRP
If you work directly with individuals affected by RUNX1-FPD (also known as FPDMM), we invite you to refer your patients to the RUNX1 Research Program (RRP).
We offer trusted, patient-centered resources, educational events, and virtual opportunities to connect with leading experts and peers navigating similar experiences. Our community is strong, supportive, and eager to welcome new members and help them better navigate their healthcare needs.
We have also recently launched the RUNX1 Patient Data Hub, a powerful research and educational tool designed to collect and summarize patient-reported health information, providing real-time, accurate insights into how this rare disease impacts our patient community. The more patient participants we have, the better and more powerful the data shared will be as a whole.
If you have questions or would like materials to share with your patients, please contact Dr. Amanda Eggen, RRP’s Director of Patient Engagement and Clinical Programs, at aeggen@runx1-fpd.org.
Thank you for your collaboration in improving the lives of RUNX1-FPD patients! |
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A Collaborative Effort to Support RUNX1 VUS Reclassification |
RRP is partnering with ConnectMyVariant, the ClinGen Myeloid Malignancy Variant Curation Expert Panel (MMVCEP), and the NIH RUNX1 Clinical Research Study to support individuals with germline RUNX1 variants of uncertain significance (VUS) and help advance variant reclassification.
This initiative aims to gather the critical familial and population-level data needed to inform expert review and ultimately reclassify prioritized RUNX1 variants. ConnectMyVariant is a voluntary, no-cost program offering:
- Support from trained Family Outreach Navigators.
- Guidance on cascade testing and family communication.
- Opportunities to connect with others who share the same variant.
- A pathway to contribute to research that may improve clinical care and variant understanding.
We welcome clinician collaboration in the following ways: -
Refer patients with prioritized RUNX1 VUSs. Click here to see the current list. RRP will coordinate next steps for ConnectMyVariant enrollment.
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Share information on any RUNX1 VUSs identified in your clinic, including:
- The specific RUNX1 variant.
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Any personal or family history consistent with RUNX1-FPD (e.g., bleeding, thrombocytopenia, blood cancer).
If you have questions or would like to refer a patient, please contact Dr. Katrin Ericson at kericson@runx1-fpd.org.
Your partnership is vital to advancing variant interpretation and supporting affected families throughout the RUNX1-FPD community. Thank you! |
"Hematopoietic stem cell division is governed by distinct RUNX1 binding partners” |
Dr. Leonard Zon shares how he and his team found that Ro5-3335 increased HSC divisions in zebrafish, and animals transplanted with Ro5-3335 treated cells had enhanced chimerism compared to untreated cells. Using human CD34+ cells, they showed that Ro5-3335 remodels the RUNX1 transcription complex by binding to ELF1, independent of CBF-b. This allows specific expression of cell cycle and hematopoietic genes that enhance HSC self-renewal and prevent differentiation. Furthermore, they provide the first evidence to show that it is possible to pharmacologically increase the number of stem cell clones in vivo, revealing a previously unknown mechanism for enhancing clonal diversity.
These studies have revealed a mechanism by which binding partners of RUNX1 determine cell fate, with ELF transcription factors guiding cell division. This information could lead to treatments that enhance clonal diversity for blood diseases. Click below to learn more: |
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Please support blood cancer prevention research and help find treatments for RUNX1-FPD patients. RRP commits 100% of direct donations to fund research and educational programs.
Thank you! |
Thanks for following our progress and being a part of the RRP community! Visit www.runx1-fpd.org to learn more and keep up-to-date between newsletters. |
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