Asher Informatics PBC Awarded EQT Foundation Rare Disease Science Grant
- charlotte92502
- 3 days ago
- 4 min read
Updated: 2 days ago
ASHER INFORMATICS PBC
Clinical AI Governance & Observability Solutions
PRESS RELEASE
FOR IMMEDIATE RELEASE
Asher Informatics PBC Awarded EQT Foundation Rare Disease Science Grant
AI on FIRE LAMBO consortium awarded funding to develop federated AI diagnostics for Birt-Hogg-Dubé syndrome and Lymphangioleiomyomatosis
PITTSBURGH, PA — Asher Informatics PBC, a Public Benefit Corporation specializing in clinical AI governance and oversight solutions, today announced its participation in the AI on FIRE LAMBO consortium, which has been selected as a recipient of the EQT Foundation’s Rare Disease Science Grants. The competitive grant program provides catalytic, non-dilutive funding to accelerate transformative deeptech solutions for the diagnosis, treatment, and management of rare conditions.
The AI on FIRE LAMBO consortium brings together four world-class institutions: the University of Cambridge, Mass General Brigham (including Brigham and Women’s Hospital), Asher Informatics PBC, and Rhino Health. Led by Prof. Stefan Marciniak, PhD, at Cambridge University Hospital, the consortium will develop an AI-powered diagnostic solution for two rare and significantly underdiagnosed conditions: Birt-Hogg-Dubé syndrome (BHD) and Lymphangioleiomyomatosis (LAM).
Addressing a Critical Gap in Rare Disease Diagnostics
Birt-Hogg-Dubé syndrome is a rare autosomal dominant genetic disorder with an estimated prevalence of approximately 1 in 200,000. The condition predisposes patients to pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma. Despite the serious health risks associated with BHD, the syndrome remains widely underdiagnosed due to the variability of its clinical presentation and its overlap with other conditions. Lymphangioleiomyomatosis (LAM), another rare cystic lung disease, presents a similar diagnostic challenge. Distinguishing between BHD and LAM on CT imaging is clinically difficult, yet the distinction carries significant implications for patient management and outcomes.
“For patients living with BHD and LAM, the path to diagnosis is often long and uncertain,” said John F. Kalafut, PhD, Co-Founder and Chief Technology Officer of Asher Informatics PBC. “By applying advanced AI and federated learning approaches, this consortium has the potential to dramatically improve early detection, particularly in community and non-specialist healthcare settings where these conditions are most likely to be missed.”
A Privacy-Preserving, Federated Approach
The project applies federated learning and artificial intelligence to improve CT-based diagnosis of BHD using multi-institutional data without sharing patient information. By combining imaging, radiomics, and molecular data across institutions, the consortium aims to improve diagnostic accuracy while establishing a scalable, privacy-preserving framework that can be extended to other rare disease diagnostics.
Developing AI algorithms for rare diseases requires large amounts of medical imaging data, yet the limited number of patients diagnosed with these conditions poses a fundamental data challenge. The consortium’s federated approach, powered by Rhino Health’s federated computing platform, allows institutions to collaboratively train AI models by linking patient data across sites without centrally moving or openly sharing sensitive information, thereby preserving privacy and limiting bias of isolated patient populations, gender, and socioeconomic conditions.
Asher Informatics’ Role in the Consortium
Asher Informatics PBC will contribute its expertise in clinical AI governance and lifecycle management to the project. As an independent validator and monitor of healthcare AI deployments, the company’s role reflects its core mission: ensuring that AI solutions deployed in clinical settings are safe, effective, and governed according to established standards. The company’s participation underscores the growing recognition that responsible AI governance is an essential component of clinical AI research and development, not merely a post-deployment consideration.
“This award represents exactly the kind of work Asher Informatics was founded to support,” said Charlotte Kalafut, CEO and Co-Founder of Asher Informatics PBC. “There is often not enough commercial interest in developing AI solutions to aid in the diagnosis of rare diseases. This approach supports saving the lives of BHD and LAM patients, but will also aid in the diagnosis for all rare diseases using AI solutions as clinical support tools. Approximately one-third of all rare disease can be identified through medical imaging.” Working alongside world-class researchers and clinicians to build AI solutions that can make a real difference for patients with rare diseases, particularly in healthcare settings that lack specialized expertise, we offer governance and oversight built into the AI lifecycle from the start.
The Consortium Team
The AI on FIRE LAMBO consortium is led by a multidisciplinary team of rare disease clinicians, radiologists, and health AI experts, including Prof. Stefan Marciniak, PhD, and Teo Wetscherek, MD, PhD (Cambridge University Hospital / University of Cambridge); Josh Kaggie, PhD (University of Cambridge); John Kennedy, MD, Elizabeth Henske, MD, Benjamin Raby, MD, Remi Diesler, MD, and Justin R. Smith, MD (Brigham and Women’s Hospital, founding member of Mass General Brigham); Quanzheng Li, PhD, and Hui (Ashley) Ren, MD, PhD (Mass General Brigham); John F. Kalafut, PhD, and Charlotte Kalafut (Asher Informatics PBC); and Ittai Dayan, MD (Rhino Federated Computing).
About the EQT Foundation Rare Disease Science Grants
The EQT Foundation’s Rare Disease Science Grants are a competitive funding initiative designed to accelerate transformative deeptech solutions in the rare disease space. The program awards catalytic grants to researchers tackling urgent challenges in the diagnosis, treatment, and management of rare conditions, with a focus on high-risk, high-reward proposals that might not otherwise receive funding through traditional channels. In addition to funding, grantees benefit from access to EQT’s global network of advisors, industry partners, and commercialization support.
About Asher Informatics PBC
Asher Informatics PBC is a Pittsburgh-based Public Benefit Corporation dedicated to democratizing clinical AI governance and oversight. The company’s AshMatics Suite provides healthcare organizations with a comprehensive platform for AI lifecycle management, from policy and process governance to performance monitoring and compliance. Asher Informatics serves as an independent validator and monitor of deployed healthcare AI solutions, with a particular focus on serving underserved organizations including rural hospitals, community health centers, and resource-constrained facilities. Founded by Johnny K and John F. Kalafut, PhD, the company bridges the gap between AI policy and operational practice across the healthcare ecosystem.
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Asher Informatics PBC
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