EQT Foundation is proud to announce the recipients of its Rare Disease Science Grants, a funding initiative designed to accelerate transformative deeptech solutions for the diagnosis, treatment, and management of rare conditions. The selected projects span gene and RNA therapies, regenerative medicine, AI-enabled diagnostics, novel drug delivery platforms, and precision immunotherapy, each addressing urgent unmet needs in diseases that disproportionately affect children and underserved patient populations.

Together, these projects exemplify the power of rare disease research to generate breakthroughs with impact far beyond individual conditions, advancing new platforms, tools, and approaches that can reshape medicine more broadly.

Meet the Grantees

Spencer Shelton – Modulating metabolic flux by hematopoietic stem cell engineering to ameliorate porphyrias

A broadly applicable genetic therapy for erythropoietic protoporphyria that targets blood stem cells to restore balance in heme biosynthesis. By intervening at a shared regulatory point rather than correcting individual mutations, this approach aims to deliver a mutation-agnostic therapy capable of reaching clinical testing by the end of the project.

Daniel Bauer – Prime editing gene therapy for Shwachman-Diamond syndrome

This project advances a first-in-class prime editing strategy to treat Shwachman-Diamond syndrome, a rare inherited bone marrow failure disorder with no targeted therapies. Building on strong proof-of-concept data, the team will generate the preclinical and genotoxicity evidence needed to support a pre-IND meeting with the FDA, with the longer-term goal of establishing a gene-editing platform for blood and immune diseases.

Rhian Stavely – Autologous enteric neural stem cells for Hirschsprung disease

A curative regenerative medicine approach for children with Hirschsprung disease, which is caused by the absence of enteric neurons in the gut. Using a patient’s own cells, this project aims to regenerate functional enteric neural networks, restore gut motility, and reduce lifelong complications, while preparing the therapy for first-in-human clinical translation.

Marta M. Alonso and Iker Ausejo-Mauleón –Developing new generation oncolytic virus for pediatric brain tumors

This project is developing next-generation oncolytic virus therapies for otherwise incurable pediatric brain tumors, with a focus on diffuse midline gliomas. The grant will support advanced preclinical validation of POP-02, alongside regulatory planning toward first-in-human studies in Europe and the United States, with the ambition to initiate a Phase I trial in children.

Guei-Sheung Liu – Transformative RNA editing therapy for Usher syndrome

This project from the Centre for Eye Research Australia, is developing a first-in-class RNA editing therapy to directly correct the genetic cause of Usher syndrome, a condition that leads to irreversible vision loss and early-onset hearing impairment. By restoring essential retinal proteins, the approach has the potential to halt retinal degeneration and transform outcomes for up to 300,000 people worldwide.

Timothy Jenkins – AI-designed T-cell engagers for virus-driven Merkel cell carcinoma

Using de novo protein design, this project creates highly selective bispecific T-cell engagers that target viral peptide–MHC complexes in Merkel cell carcinoma, a rare and aggressive skin cancer. The platform combines generative AI with in vitro and in vivo validation to deliver a preclinical lead with a clear path toward IND-enabling studies and broader applicability to other virus-associated cancers.

Wouter van Rheenen and Vamshidhar R. Vangoor – ATTAIN: Antisense therapies targeting ALS in induced neurons

ATTAIN aims to rapidly translate genetic discoveries into gene-targeted therapies for ALS. By building a scalable pipeline using patient-derived motor neurons, the team will screen and optimize allele-specific antisense oligonucleotides, nominating lead candidates for safety testing and future first-in-human precision therapies.

Stefan Marciniak – AI-enabled diagnosis of Birt-Hogg-Dubé syndrome

This project applies federated learning and artificial intelligence to improve CT-based diagnosis of Birt-Hogg-Dubé syndrome using multi-institutional data without sharing patient information. By combining imaging, radiomics, and molecular data, the approach aims to improve diagnostic accuracy in non-specialist settings and establish a scalable, privacy-preserving framework for rare disease diagnostics.

Feyisayo Eweje – ENTER: Elastin-based nanoparticles for therapeutic delivery

This project is developing a non-viral protein nanoparticle system for targeted in vivo delivery of gene editors to hematopoietic stem cells. By overcoming key limitations of ex vivo gene editing, this platform aims to enable scalable genetic medicines for inherited blood and immune disorders such as sickle cell disease and beta-thalassemia.

Ana Topf – Latin-SEQ

Latin-SEQ is a multi-centre consortium focused on rare neuromuscular diseases in Latin America. The project integrates diagnosis, gene discovery, and translational development while building sustainable, locally owned scientific infrastructure. By enabling federated analyses and cross-site learning, Latin-SEQ promotes equitable collaboration and long-term capacity building in the region.

Annelisa Cornel – MetaboCAR

MetaboCAR is developing next-generation CAR-T therapies that exploit shared metabolic vulnerabilities across childhood cancers. By targeting metabolic stress signals rather than tumor-specific antigens, this approach aims to unlock new, broadly applicable immunotherapies for pediatric oncology.

Kim Fabiano Marquart – Nerai Bioscience

Nerai Bioscience combines AI with high-throughput directed evolution to engineer customized CRISPR gene-editing tools capable of targeting disease mutations currently beyond reach. With applications in rare genetic liver and metabolic diseases such as citrullinemia type I and phenylketonuria, the project seeks to expand access to first-in-class genome medicines.