Genomics for rare diseases

101 Genomes supports genomic and bioinformatics research to better diagnose, understand, and treat rare diseases.

101 Genomes’ initial focus is on a multi-systemic disease called Marfan syndrome, with the intention of extending it to other rare diseases.

With the support of the King Baudouin Foundation, Ludivine and Romain Alderweireldt-Verboogen created 101 Genomes to help children who, like their little boy, suffer from a rare disease.

People with rare diseases teach us a great deal about who we are and what we are capable of giving. They ask us about our humanity.

Rare diseases force scientists to question biological mechanisms that concern us more broadly than the specific case of people suffering from rare diseases.

Research dedicated to rare diseases is advancing our understanding of the human genome, and this knowledge is paving the way for the treatment of rare and much less rare diseases.

People with rare diseases have so much to offer us all as a reward for what we have to do to help them.

The establishment of the 101 Genomes project dedicated to Marfan Syndrome has made it possible to develop a model based on four pillars:

1. Administrative and Financial : Supervised by the King Baudouin Foundation
2. Legal and ethical : Dynamic consent and access management
3. Organic : Laboratory and Biobank
4. Digital: Cloud Genomics and Bioinformatics

At the initiative of patients (or patient associations), this model can now be used for genomic research into other rare diseases.

In all cases, it’s essential for patients to be the “triggers” behind a 101 project dedicated to the disease that concerns them.

In vivo, in vitro & in silico

The GEMS study is being conducted jointly at UZ Gent and UZA: the Ghent and Antwerp laboratories are working on the search for protective genes in vivo (zebrafish) and in vitro (reprogrammed human cells called IPSCs).

To realize the bioinformatics (in silico) part of this research, 101 Genomes created a genomic Cloud in 2020 to host the digitized genomes of patients with Marfan syndrome and allow bioinformaticians to deploy their artificial intelligence tools to identify protective genes.

Data Altruism

In June 2025, 101 Genomes was the first genomic data altruist organization (Data Altruist Organisation – DAO) recognized in Europe under the Data Governance Act.

Currently, 101 Genomes is the first and only genomic DAO recognized within the European Union and registered in the DAO register here.