Driving research, providing support and improving outcomes for patients and their families affected by rare conditions

An international consortium of researchers led by the University of Cambridge’s Professor Stefan Marciniak, with participation from Mass General Brigham, Asher Orion Group and Rhino Health is pleased to announce a collaborative effort to develop novel diagnostic tools for Birt-Hogg-Dube (BHD) Syndrome, a rare genetic disorder affecting skin, lungs and kidneys.

This multi-national research project brings together clinicians who specialise in rare diseases with computer scientists and specialists in medical devices and AI. This groundbreaking research, supported by a grant from the Myrovlytis Trust, will utilise clinical data from the University of Cambridge and Mass General Brigham to build an artificial intelligence (AI) solution in collaboration with Asher Orion Group on a trusted federated learning platform provided by Rhino Health.  This cutting-edge machine learning (ML) technique allows for the creation of AI algorithm models using data distributed across geographically disparate locations, without the data ever leaving the individual institutions.

“Birt-Hogg-Dube syndrome is a complex disease that can be challenging to diagnose,” said Professor Stefan Marciniak, from Cambridge University. “By leveraging federated learning, we hope to develop accurate and efficient diagnostic tools that can be used by both specialists and non-specialists alike.”

“The charity is delighted to support this exciting multi partnered project” said Alison Taylor from the Myrovlytis Trust. “It has the potential to support increased diagnosis rates for the condition, which could eventually lead to far higher numbers of patients being able to access the right medical support and advice to change lives.”

Challenges in Rare Disease Research

To develop robust AI models for rare diseases that can improve both the diagnosis and the healthcare of patients with rare diseases, it is important to train the models on diverse data sets from multiple institutions, across disparate geographies, representing many patient types.

Rare disease research to diagnose and treat conditions like BHD is often hampered by the limited availability of data. Traditional ML methods typically require large datasets for training.  Finding and curating those datasets for developing healthcare applications is difficult and is much harder for rare-disease use cases because the data are fewer in number, are in many locations, and contain sensitive information. Because rare diseases are often un-diagnosed, there is also the issue that these data may not exist.

The long-term goal of this research consortium is to see the realisation of a federated and privacy-preserving way to create a rare-disease AI tools that can then be deployed by any health system so that these conditions may be more often detected, without the need for specialised experts everywhere.

“This is a unique opportunity to combine expertise from across the globe, both clinicians and computer science expertise. We strive for the day when all physicians and care-teams can access and use the power of computational innovations for patients’ quality of life regardless of their geographical location and socio-economic status. In my career, I have participated in and led several international consortia charged with developing medical AI innovations. Based on those experiences, I can affirm that this research can serve as a model for future research into rare diseases.” Said John F Kalafut, PhD, CEO of Asher Orion Group.

“Federated learning offers a powerful solution to the challenge of data scarcity in rare disease research,” said Dr. Ittai Dayan, co-founder & CEO of Rhino Health. “By scaling data between different academic and non-academic centers, we can unlock the potential of this data to develop new diagnostics”.


About The Myrovlytis Trust

The Myrovlytis Trust is a charity (UK Charity Commission number 1122073) founded in 2007, with an aim is to transform the outlook for rare conditions. With an initial focus on Birt-Hogg-Dubé Syndrome and osteosarcoma, the trust strategically funds research directed towards new treatments. To learn more, visit https://myrovlytistrust.org.


About the University of Cambridge

The University of Cambridge is a public collegiate research university in Cambridge, England. Founded in 1209, the University of Cambridge is the world’s third-oldest university in continuous operation.  To learn more, visit http://www.cam.ac.uk.


About Asher Orion Group

Asher Orion Group is a digital health and medical AI solutions and advisory firm.  With more than 30 regulated enterprise products brought to market, an additional 8 co-developed medical AI solutions, they are a recognised global leader helping organisations build their healthcare AI products and market strategies. To learn more, visit http://www.asheroriongroup.com..


About Mass General Brigham

Mass General Brigham is a not-for-profit, integrated health care system that engages in medical research, teaching, and patient care. It is the largest hospital-based research enterprise in the United States, with annual funding of more than $2 billion. It is also an educational institution, founded by Brigham and Women’s Hospital and Massachusetts General Hospital. To learn more, visit https://massgeneralbrigham.org.


About Rhino Health

Rhino Health is activating the world’s data through federated computing. The company is headquartered in Boston, with an R&D center in Tel Aviv. Visit https://www.rhinohealth.com to learn more.

Media Contacts


Myrovlytis Trust:

Alison Taylor, Chief Executive


University of Cambridge:

Hospital press office: cuh.press@nhs.net

University: Craig.Brierley@admin.cam.ac.uk

Asher Orion Group LLC

John F Kalafut, PhD, CEO

+1 412-737-5752v