SDS Alliance Receives Grant from RTW Foundation to Advance Prime Editing Gene Therapy for Shwachman-Diamond Syndrome
- Eszter Hars, Ph.D., President and CEO, SDS Alliance
- 6 hours ago
- 6 min read
Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog.
In this month’s SDS Spotlight, Eszter Hars, Ph.D. — molecular biologist, SDS Alliance CEO, and mother of a child with SDS — shares what this grant means, how SDS Alliance deploys research funding through structured partnerships, and what the broader gene therapy landscape looks like for SDS. We are making progress toward Clinical Trials by 2030.
SDS Alliance is excited and grateful to announce that we have received a grant from the RTW Foundation's Rare Disease Acceleration Program (RDAP) to support the development of prime editing-based gene therapy for Shwachman-Diamond Syndrome. This funding is being deployed through a formal research partnership with Dr. Daniel Bauer's laboratory at Boston Children's Hospital in collaboration with Dr. Akiko Shimamura and the BCH Gene Therapy Program team.
This is a milestone for SDS Alliance and for the SDS community that made it possible, furthering our goal of clinical trials by 2030.
What is prime editing, and why does it matter for SDS?
Prime editing is one of the most precise gene editing technologies available today. For SDS, it enables correction of the "splice site" mutation in the SBDS gene — the genetic change that causes SDS in over 99% of patients diagnosed genetically — with high accuracy.
What makes Dr. Bauer's program particularly promising is that the approach has a promising safety profile and can target blood stem cells that are responsible for bone marrow failure and increased MDS/AML risk in SDS patients. The goal is to correct patients' own stem cells in a lab and return them to the body, without chemotherapy or conditioning. For SDS patients, who are at risk of transplant complications, avoiding chemotherapy would be groundbreaking and may one day enable earlier intervention before SDS complications develop.
The program is working toward a pre-IND meeting with the FDA within the next 9–12 months — a critical regulatory step that moves a therapy closer to a clinical trial.
How SDS Alliance deploys research funding
We want to share how this works — because it matters.
SDS Alliance does not make donations to researchers. We enter into structured research agreements with defined milestones and deliverables. Funding is tied to specific scientific outputs that can be reviewed and verified. This means accountability to every patient, family, and donor whose contributions made this partnership possible.
Think of it like a garden. The therapy development programs are the plants. The patients are the sun — the reason everything grows. SDS Alliance tends the soil, providing infrastructure, tools, and the connections that make growth possible. Funding is the water. It's essential — but not enough on its own.
As Eszter Hars, Ph.D., SDS Alliance's CEO, highlights:
"Funding is not enough. Funding plus strategy is."
What the RTW Foundation brings
The RTW Foundation's Rare Disease Acceleration Program was created specifically for rare diseases like SDS — too rare for traditional commercial investment, but with the scientific foundation and patient infrastructure already in place to move forward with targeted philanthropic support. Their model of partnering with patient advocacy organizations to accelerate translational research validates SDS Alliance's approach, and we are deeply grateful for their support.
Joe Katakowski, Director of Research at RTW Foundation shared:
We are excited to support SDS Alliance through the Rare Disease Advising Program as they advance a prime editing-based gene therapy for Shwachman-Diamond Syndrome. By combining grant funding with deep advisory support, RDAP is designed to help patient-organization-led programs like this one make better decisions earlier, move with greater confidence, and accelerate progress toward meaningful treatments for patients and families. This collaboration with Daniel Bauer’s laboratory at Boston Children's Hospital, alongside Akiko Shimamura and the BCH Gene Therapy Program, reflects the kind of rigorous, translational work we aim to enable.
This is part of something larger
This grant is one piece of a broader effort. Dr. Bauer's prime editing program is the most advanced SDS gene therapy program in the world right now — but it is not the only work happening. Researchers in the United States, Europe, and Australia are pursuing complementary approaches: base editing, in vivo delivery, iPSC-based models, and more. SDS Alliance is actively working to connect these efforts, ensure they benefit from one another, and make sure that every dollar and every data point the community contributes goes as far as possible.
What does "cure" mean for SDS?
This is a question that sounds simple but is deeply personal, with a unique answer for every family.
Gene therapy, as currently envisioned, targets the bone marrow. A successful therapy could dramatically reduce infection risk, lower the risk of MDS and leukemia, and potentially eliminate the need for a stem cell transplant. For many families, that alone would be life-changing — even life-saving.
However, it would not, at least in its current form, address every aspect of SDS. The pancreatic, skeletal, and neurocognitive features of SDS are distinct from the bone marrow, and separate research efforts are needed there as well.
SDS Alliance is committed to all critical unmet needs — funding what is closest to the clinic now, while continuing to build the infrastructure for what comes next, and keeping you informed of where each effort stands.
None of this is possible without you
The patients and families who have shared their experiences, completed surveys, participated in the SDS PFDD meeting, donated samples to research and biobanks, and contributed financially — you built the credibility that attracts this kind of investment.
The Voice of the Patient Report we are finalizing from last year's PFDD meeting will serve as a regulatory resource for every drug developer working on SDS and for regulators like the FDA to gain a deeper understanding of patients' unmet needs. Your voices are shaping the therapies of tomorrow.
Our next big goal is clinical trials by 2030 — to give SDS families more birthdays to celebrate. To #CureSDS
Follow along. Share our updates. And if you are able to contribute, know that every dollar is deployed with intention, accountability, and a clear strategy for impact.
Learn more about SDS Alliance's research programs at www.SDSAlliance.org
About SDS Alliance
Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a US-based 501(c)(3) nonprofit organization serving the global SDS community. Founded in 2020 by Eszter Hars, Ph.D., a molecular biologist and parent of a child with SDS, the Alliance accelerates therapy development through research partnerships, patient engagement, and field-wide infrastructure. SDS Alliance's programs include an international patient registry, a biobank, an FDA-recognized patient-focused drug development meeting, and Project PACER — a PCORI-funded initiative to build patient capacity for research participation. Learn more at www.SDSAlliance.org.
About RTW Foundation
Founded in 2018 as the philanthropic arm of RTW Investments, LP, RTW Foundation works to power community initiatives and provide rare disease advising to improve the health of underserved populations. The Foundation supports the development of medicines for neglected rare diseases, empowers youth to explore careers in science, biotechnology, and medicine, and builds partnerships with local organizations to advance health equity in New York City. To learn more, visit www.rtwf.org.
About the Bone Marrow Failure and MDS Program at Dana-Farber/Boston Children's
The Bone Marrow Failure and Myelodysplastic Syndrome Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center is one of the nation's leading pediatric treatment and research programs for bone marrow failure, MDS, and related conditions. The program's gene therapy research is led by Dr. Daniel Bauer, in collaboration with Dr. Akiko Shimamura and the BCH Gene Therapy Program team, and aims to develop a prime editing-based therapy for Shwachman-Diamond Syndrome — working toward a first-in-human clinical trial. Learn more at childrenshospital.org/services/bone-marrow-failure-program.
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