RTW Foundation Awards $573,000 to Rare Disease Foundations Advancing Ultra-Rare Disease Research

RTW Foundation is proud to announce $573,000 in grant funding for eight rare disease foundations advancing critical rare disease research.

NEW YORK CITY, NY, UNITED STATES, May 12, 2026 /EINPresswire.com/ -- RTW Foundation, the philanthropic arm of biotech investment firm RTW Investments, is proud to announce $573,000 in grant funding for eight rare disease foundations advancing critical rare disease research, each led by families and patient-led organizations working at the front lines of research, patient engagement, and therapeutic development.

Rare disease foundations play an essential role in accelerating research, mobilizing patient communities, supporting studies, facilitating trial readiness, and bridging the gap between families, researchers, and the pharmaceutical industry. Together, these organizations are addressing urgent unmet needs across the rare disease landscape, where complexities in treatment options, small patient populations, and limited funding often slow progress toward treatment.

RTW Foundation’s rare disease grants support essential work across the full research and development pipeline, from early laboratory studies and animal models to safety and toxicology assessments and preparation for clinical trials.

Beyond grant funding, RTW Foundation works closely with each organization through its Rare Disease Advisory Program (RDAP), providing free scientific and strategic advising to help rare disease foundations evaluate research priorities, therapeutic opportunities, and key translational next steps. “We’re incredibly grateful to support our rare disease partners, whose leadership, urgency, and lived experience continue to drive meaningful progress,” said Nicole Litt, Program Manager at RDAP. “It’s a privilege to stand alongside families as they push research, expand access, and bring hope to patients around the world.”

Birdie's Flight for a KDM5C Cure is a family-led foundation dedicated to advancing treatment for KDM5C-related disorders, including rare X-linked neurodevelopmental conditions caused by KDM5C deficiency. Through RDAP, Birdie’s Flight is supporting n-Lorem Foundation’s work to design and develop ASOs that target regulatory elements within KDM5C transcripts, with the goal of increasing endogenous KDM5C protein levels. This upregulation approach, distinct from gene editing or gene replacement, may inform therapeutic strategies not only for KDM5C-related disorders but also for other conditions where increasing expression of the native gene product may be beneficial.

CHAMP1 Research Foundation is dedicated to finding treatments for CHAMP1 syndrome, a rare neurodevelopmental disorder caused by pathogenic variants in the CHAMP1 gene. Through RDAP, CHAMP1 Research Foundation will develop an RNA-based target-site blocker therapeutic approach designed to restore CHAMP1 protein levels in patient-derived neurons and preclinical mouse models. This work aims to establish proof-of-concept for a haploinsufficiency-targeted strategy and lay the groundwork for future translational development.

Miracles for Mighty Milo Foundation is a family-led organization advancing research for SPAX5, also known as spastic ataxia type 5, a rare AFG3L2-associated neurologic disorder. Through RDAP, the Foundation is supporting the transfer of Milo-derived iPSC lines to Dr. Francesca Maltecca’s laboratory at IRCCS Ospedale San Raffaele in Milan and funding initial feasibility experiments to evaluate AAV-mediated gene addition in patient-derived neural cells. This work will generate human-relevant data to support follow-on funding and help advance the program toward therapeutic development.

The MYT1L Project Foundation is committed to finding treatments for MYT1L neurodevelopmental syndrome, a rare condition caused by haploinsufficiency of the MYT1L gene. Through RDAP, the Foundation is supporting a multi-institution collaboration to screen and identify lead ASO candidates designed to increase productive MYT1L expression, with validation in iPSC-derived neurons and patient-derived cells. The goal is to identify potent, well-characterized lead sequences that can advance into preclinical proof-of-concept studies.

Shwachman-Diamond Syndrome Alliance is a patient advocacy organization dedicated to improving outcomes for individuals living with Shwachman-Diamond syndrome, a rare multisystem disorder affecting the bone marrow, pancreas, and other organ systems. Through RDAP, the Foundation is supporting development of a prime editing-based strategy to evaluate whether precise correction of the underlying genetic defect could provide a durable therapeutic path for the SDS community.

Sophie's Hope Foundation/CureGSD1b is a patient advocacy organization focused on improving the lives of individuals with Glycogen Storage Disease Type Ib, a rare metabolic disorder affecting glucose regulation and immune function. Through an RDAP grant, the organization will develop a comprehensive natural history study at UTHealth Houston to characterize the clinical course of GSD Ib, including metabolic complications, neutropenia, enterocolitis, liver disease, and response to emerging treatments such as empagliflozin. The data collected will inform genotype-phenotype correlations and support future therapeutic development efforts.

The Styrke Foundation is a patient advocacy organization dedicated to accelerating treatment development for Diamond-Blackfan anemia syndrome (DBAS). Through RDAP, RTW Foundation is supporting the organization in producing the first-ever externally led Patient-Focused Drug Development meeting with the FDA for DBAS, conducting a comprehensive patient and caregiver survey, and developing a Voice of the Patient report to inform future therapeutic development. This work also supports the launch of Styrke Canada and the development of a DBAS natural history study.

The TESS Research Foundation is dedicated to finding treatments for SLC13A5 epilepsy, a rare and severe developmental and epileptic encephalopathy caused by loss-of-function variants in the citrate transporter gene SLC13A5. Through an RDAP grant, the Foundation is supporting development of novel drug-screening assays to identify small-molecule activators of SLC13A5, a high-priority and underexplored therapeutic strategy given that existing compounds are inhibitors and therefore unsuitable for a loss-of-function disease. Natural history data suggest that even partial restoration of SLC13A5 activity may benefit patients, making this a compelling opportunity for drug discovery.

About RTW Foundation
Founded in 2018 as the philanthropic arm of RTW Investments, LP, RTW Foundation works to power community initiatives and provide scientific 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.

Samantha Darris
RTW Foundation
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