RTW Foundation Issues $573,000 in Grants to Address Gaps in Rare Disease Research

Rare Daily Staff

RTW Foundation has awarded $573,000 in grants to eight rare disease organizations, underscoring the growing role of patient-led groups in advancing early-stage research and therapeutic development across underserved conditions.

The funding will support a range of programs spanning preclinical research, natural history studies, and trial readiness efforts. RTW Foundation, the philanthropic arm of RTW Investments, said the grants are designed to help bridge persistent gaps in rare disease research, where limited patient populations and funding constraints often slow progress.

The announcement highlights a broader trend in rare disease research: families and patient advocacy groups are increasingly acting as catalysts for drug development. These organizations often fund early studies, build patient registries, and engage directly with researchers and regulators—activities traditionally led by industry or academia.

“Rare disease foundations are often the driving force behind early innovation,” said Nicole Litt, program manager for the Foundation’s Rare Disease Advisory Program.

In addition to financial backing, each recipient will receive strategic and scientific guidance through RDAP, which helps foundations refine research priorities and evaluate therapeutic pathways.

Several of the funded projects focus on RNA-based or gene-modulating approaches aimed at restoring protein expression in genetic disorders:

• Birdie’s Flight for a KDM5C Cure is advancing antisense oligonucleotides (ASOs) designed to increase endogenous KDM5C protein levels—an approach that could extend beyond this specific neurodevelopmental disorder.
• CHAMP1 Research Foundation is developing an RNA-based “target-site blocker” to restore CHAMP1 protein expression, with validation planned in both patient-derived neurons and animal models.
• The MYT1L Project Foundation is screening ASO candidates to boost MYT1L expression, aiming to identify lead molecules for preclinical development.

Other programs emphasize gene therapy and gene editing strategies:

• Miracles for Mighty Milo Foundation is supporting AAV-based gene addition studies for SPAX5 using patient-derived cell models.
• Shwachman-Diamond Syndrome Alliance is exploring a prime editing approach to correct the underlying genetic mutation responsible for the disease.

Several grants focus on building the clinical and regulatory infrastructure needed to advance therapies into human studies:

• Sophie’s Hope Foundation/CureGSD1b will launch a natural history study at UTHealth Houston to better characterize disease progression and treatment response in Glycogen Storage Disease Type Ib.
• The Styrke Foundation will organize the first externally led Patient-Focused Drug Development meeting with the FDA for Diamond-Blackfan anemia, alongside patient surveys and a “Voice of the Patient” report.
• TESS Research Foundation is developing drug-screening assays to identify small-molecule activators of SLC13A5, a novel strategy for a loss-of-function epilepsy disorder.

By pairing grant funding with advisory support, RTW Foundation aims to accelerate this model and help de-risk early programs for future investment or partnership.