GenoMed4All celebrates its 5th General Assembly online

On 13 September 2023, the GenoMed4All consortium gathered virtually to share the most recent updates about our progress and discuss the plans that lie ahead for the coming months. 

Project Coordinator Federico Alvarez, from Universidad Politécnica de Madrid (UPM), led the session where each Work Package leader presented their latest achievements and future actions. The key topics discussed included:

  • Building an ethical, legal and trustworthy AI-based data protection framework, led by The European Institute for Innovation through Health Data (i-HD)
  • Validating protocols to develop AI algorithms for personalized medicine in the context of hematological diseases, as being explored by the team at Università di Bologna
  • Determining the specificities and validation of the 3 use cases (Myelodysplastic syndromes, Multiple Myeloma and Sickle Cell Disease), as well as data harmonization and testing plans carried by Humanitas Research Hospital
  • Linking data repositories for the design of a Federated Learning framework and platform to develop, train and fine-tune AI algorithms and models with real-world patient data, led by the Telecommunications Engineering team at UPM
  • Data engineering, anonymisation algorithms, curation and privacy preservation tools and pipelines for each of our use cases, as being defined by Dedalus
  • Advancing genomics standardization, open science data and training, supervised by Centre for Genomic Regulation (CRG)

All partners are looking forward to meeting in Barcelona on 17-18 January 2024 for the next General Assembly, and continue working together to build the next generation of healthcare.

GenoMed4All highlighted as one of Europe’s top research programs during World Sickle Cell Day 2023

To commemorate this year’s World Sickle Cell Day, on 19th June, ERN-EuroBloodNet have put the spotlight on the European research and education initiatives fighting to improve the lives of individuals and families affected by this condition. We are very proud to see GenoMed4All listed alongside other EU-funded initiatives including EVIDENCE, INHERENT, EDITSCD and our sister project SYNTHEMA in this interactive poster created by ERN-EuroBloodNet to mark the occasion.

Mar Mañú Pereira, Principal Investigator at our partner institution Vall d’Hebron Institute of Research (VHIR), also introduced the work carried out by GenoMed4All’s consortium and the other four projects during a presentation to the Sickle Cell Disease Spanish Association (ASAFE) earlier this week, coinciding with ERN-EuroBloodNet’s campaign in celebration of World Sickle Cell Day 2023.

According to the Global Alliance of Sickle Cell Disease Organizations (GASCDO), one of this year’s themes is dedicated to raising awareness about the latest technological advancements in the SCD field, helping patients and healthcare professionals to identify the current status of the disease. The partners involved in GenoMed4All believe that technology, especially Artificial Intelligence, holds the power to bring new and improved diagnosis and prognosis into the future of healthcare, which in turn will positively contribute to the future of those suffering from rare haematological diseases, such as Sickle Cell.

Read more about our mission to empower forward-thinking research of common and rare Haematological Diseases.


A brief introduction to our sister project SYNTHEMA

SYNTHEMA is a Horizon Europe research and innovation action that aims to establish a cross-border health data hub for rare haematological diseases (RHDs).

Haematological diseases are highly diversified, with oncological and non-oncological subcategories. The scarcity and fragmentation of patient data across scattered transnational repositories hinder effective health planning and make difficult to engage in basic and clinical research. SYNTHEMA aims to tackle this challenge by establishing a research platform  connecting clinical centres of excellence in the research and care of RHDs, technical  research centres, industries and SMEs, to advance translational and clinical research by generating and validating anonymised and synthetic data in RHDs.

To ensure data security and patients’ privacy, the project will make use of a federated learning (FL) infrastructure, privacy preserving by design, that will allow to iteratively train, refine and validate AI algorithms at hospital premises, without sharing of data outside local repositories. Also, it will equip it with secure multi-party computation (SMPC) protocols and differential privacy (DP), allowing distributed computation of mathematical functions between centres without revealing the underlying data.

SYNTHEMA will focus on two representative RHD use cases: sickle-cell disease (SCD), for non-oncological haematologic diseases, and acute myeloid leukaemia (AML) for haematologic cancers.

To make the project vision a reality, the research is articulated into five strategic objectives, as seen below:

  1. Provide novel methods and capabilities to generate synthetic multimodal clinical, omics, and imaging data for RHDs with a validated clinical result.
  2. Develop de-identification and anonymisation pipelines at the service of clinical research and care.
  3. Consolidate and scale-up the use of FL applications, SMPC and DP solutions for privacy-preserving local algorithm training and global model aggregation.
  4. Ensure ethical and GDPR compliance in anonymised and synthetic data-driven research in RHDs.
  5. Ensure wide uptake and scalability of the developed methodologies and tools through effective stakeholder engagement, dissemination and open science practices.

SYNTHEMA will contribute to existing data registries such as the European Rare Blood Disorders Platform (ENROL), the European Platform on Rare Disease Registration (EU RD Platform), and the European Rare Disease Registry Infrastructure (ERDRI) with data standards, pipelines, and shareable data assets, and support their long-term sustainability.

Visit their website and stay tuned to their social media channels, Twitter and LinkedIn!

Our third General Assembly in Madrid

After nearly one year and a half of seeing each other online... we were finally able to meet in person for our third General Assembly!

Madrid was the chosen scenario and it did not disappoint in the slightest: sunny weather accompanied us throughout 2 days full of presentations, live discussions and brainstorming.

49 colleagues from our 23 partners got together to showcase the progress made on our use cases, AI modelling, data pre-processing and Federated Learning environment.

Here's to the next 6 months!



GenoMed4All supports Rare Disease Day 2022

Today (February 28th) is Rare Disease Day 2022!

At GenoMed4All, we are more than happy to join in the efforts to raise awareness and do our part in  improving the lives of the 300 million people living with a rare disease worldwide.

Take a look at the communication below on how our project is committed to advancing research in rare diseases and don't forget to share your colours!

GenoMed4All supports Rare Disease Day 2022

Kicking off 2022 with a second General Assembly

It's our first anniversary and there's no better way to celebrate than with a General Assembly! Though we could be together virtually, our ice-breaker pool made it clear: there's definitely a list of top destinations to choose from for a face-to-face meeting in the future.

After intense discussions on our use cases for Myelodysplastic Syndromes, Multiple Myeloma and Sickle Cell Disease, we discussed data sharing potentials, enjoyed a brainstorming session on our Federated Learning framework design principles... and started working through the details of our engagement strategy. The future is looking bright!

A first meeting for GenoMed4All's Ethics Advisory Board

Our Ethics Advisory Board convened yesterday for the very first time in our project and we could not have asked for better company! We had the opportunity to present an overview of GenoMed4All's first year of work for the consideration of our experts Mahsa Shabani, Paul Timmers and Nikolaus Forgó, who in turn provided some valuable directions and thoughtful insights on how to ensure that privacy and trustworthiness of AI models are at the forefront of our efforts to bring personalized care to hematological diseases.

Learn more about our experts' profiles here in our dedicated Advisory Board section!



Networking with the 1+ Million Genomes initiative

On December 15th, we had the pleasure of attending a meeting hosted by Szymon Bielecki (EC DG CONNECT - Unit H3: eHealth, well-being and ageing) with the cluster of EU-funded projects on the topic of AI for Genomics and Personalised Medicine - PANCAIM, INTERVENE and KATY on the 1+ Million Genomes initiative, which brings together 22 European countries, the UK and Norway with the goal of making at least 1 million sequenced genomes accessible in the EU by 2022.

This was a great opportunity to directly interact and discuss ethics and legal concerns (mainly on data sharing) with representatives from the B1MG (Beyond 1 Million Genomes) and their working group on Ethical, Legal and Social Issues (ELSI).

Check out their work here and stay tuned for more updates on this collaboration!



Photo by Warren Umoh on Unsplash

First joint meeting on Oxygenscan protocol harmonization

Earlier this month, GenoMed4All partners and collaborators met to discuss opportunities in OxygenScan protocol harmonization. The Oxygenscan test is particularly relevant for our use case group working on Sickle Cell Disease (SCD), as it measures the relative oxygen pressure at the precise moment red blood cells reach the Point of Sickling (PoS) and thus, describes the defined loss of deformability of red blood cells affected by SCD.

This first meeting was co-chaired by Mar Mañú and Amira Idrizovic from Vall d'Hebron Institute of Research and Minke Rab and Richard van Wijk from UMC Utrecht, and gathered experts from Università  degli Studi di Padova, APHP and additional interested parties from the Hematology department (Laboratory LHUB-ULB) at Erasme Hospital, Brussels.

The focus was on the standardization of key points in the OxygenScan analysis process within GenoMed4All's practice. Among the critical aspects that need to be considered are: hardware and software settings and machine set-up (e.g. fixed gain and oxygenation for the experiments), blood volume used for the test on red blood cell count, storage temperature for these blood samples, considerations of osmolarity for PVP vials, the pO2 spot.... Participants also agreed on a common methodology to check reproducibility of all experiments.

This is a meaningful first step in setting a baseline for the overall standardization of Oxygenscan tests, which will ultimately shape a compendium of best practices to share with future associate members of GenoMed4All within ERN-EuroBloodNet's member network.



Photo by FLY:D on Unsplash

General Assembly #1 - the work so far

This week we celebrated our 6-month milestone with a General Assembly to reflect on the work done and all the challenges ahead.

As part of the meeting agenda, there were some breakout sessions planned to share the progress made on our use cases (both from the clinical and technical perspectives), discuss how to approach data sharing, ethics and GDPR and start working on our outreach and engagement strategy.



Photo by Austris Augusts on Unsplash