By David Rubert, PhD. Insights from Prof. Dr. Hugues Abriel (Institute of Biochemistry and Molecular Medicine, University of Bern)
I recently had the pleasure to sit down with Prof. Hugues Abriel, physician-scientist and Vice-Rector for Research & Innovation at the University of Bern, to learn more about his research projects and initiatives in Africa. Our conversation unfolded around the challenges of diagnosing rare diseases where infrastructure is limited, and how portable genomic technologies, literally packed into three suitcases, are opening new possibilities. What emerged was not only a technical story about sequencing DNA in Dakar and Kinshasa, but also a broader vision for equitable scientific collaboration between African and European partners.
Introduction
Rare genetic diseases are not rare in Africa, they are rarely diagnosed. Conditions such as sickle cell disease, cystic fibrosis, and other monogenic disorders remain largely invisible in clinical practice, not because they are absent, but because tools for detection and genomic characterization are limited in scope, infrastructure, and accessibility. Recent advances in portable nanopore sequencing, paired with innovative field-ready extraction workflows, are beginning to change this landscape.
This story follows the work of Prof. Hugues Abriel and collaborators across Senegal, the Democratic Republic of the Congo (DRC), Switzerland, Germany, and Xpedite Diagnostics, who are co-creating mobile genomic laboratories to address unmet diagnostic needs. At its core lies a commitment to equity: not bringing Western technologies into Africa as “solutions,” but co-designing sustainable, scientifically robust platforms with African scientists and institutions.
From Ion Channels to Portable Genomics
Abriel’s path into genomics is rooted in ion channel biology. “Nanopores are essentially ion channels,” he explains. “The idea that they could be harnessed to sequence DNA has fascinated me for over 25 years.” The connection is more than metaphorical: nanopore sequencing devices, such as those produced by Oxford Nanopore Technologies, directly measure ionic current as DNA strands pass through engineered pores.
Portable by design and relatively affordable, these instruments stand in contrast to large sequencing platforms that demand costly infrastructure. Abriel saw their potential not only for pathogen genomics, already deployed in outbreaks like Ebola and SARS-CoV-2, but also for medical genetics, a domain often neglected in low-resource settings.
The Three-Suitcase Laboratory
In July 2025, Abriel and his team travelled to Dakar, Senegal, carrying what might be described as genomics in miniature. The laboratory was divided across three suitcases, provided by Xpedite Diagnostics:
- Instrumentation suitcase: containing the Oxford Nanopore sequencing platform, laptops, and pipettes.
- Reagent suitcase: enzymes, buffers, and kits requiring strict cold-chain maintenance.
- Consumable suitcase: tubes, pipette tips, swabs, gloves, and other disposables.
The concept drew inspiration from field-deployable “lab-in-a-suitcase” models used in pathogen surveillance but extended them to rare disease genetics. Within 72 hours of arrival, the team had successfully sequenced the HBB gene, identifying sickle cell variants with diagnostic-grade accuracy.
“This was not a demonstration with simplified protocols,” Abriel stresses. “We prepared libraries, sequenced clinically relevant genes, and validated results to the standard one would expect in a clinical genetics laboratory in Europe.”
The choice of sample type proved decisive. While buccal swabs and dried blood spots were evaluated, the most robust results came from 200 µL of EDTA blood. Using Xpedite Diagnostics’ extraction kits, optimized for spin-free workflows, DNA was isolated efficiently without the need for centrifuges, making the process fully compatible with the suitcase setup.
Trials in Kinshasa
After Dakar, the team moved to Kinshasa, DRC, where partners at the University of Kinshasa have established a network of ten provincial centers investigating monogenic disorders. But here, logistics intervened: the suitcase containing reagents was blocked during transit, highlighting the fragility of cold-chain–dependent workflows.“This experience showed us that technology alone is not enough,” says Abriel. “If reagents cannot cross borders reliably, then genomic medicine cannot scale. Room-temperature stable kits, lyophilized enzymes, or innovative cold-chain solutions must be part of the strategy.”
Sickle Cell and Cystic Fibrosis: Two Contrasting Case Studies
The HBB gene, responsible for sickle cell disease (SCD), provides a model for why local sequencing matters. In regions where malaria is endemic, heterozygous carriers of sickle variants are protected against infectionm, a striking example of balancing selection. As a result, SCD is highly prevalent in African populations but rare in Europe.
Cystic fibrosis (CF), caused by pathogenic variants in the CFTR gene, presents the opposite scenario: well-characterized in European populations (1 in ~3,000 live births) but almost unstudied in Africa. Abriel’s group has initiated collaborations to explore CF prevalence in African populations, where carrier frequencies and mutation spectra remain unknown.
“Precision medicine requires population-specific variant databases,” Abriel explains. “Relying on European reference genomes is inadequate for African patients, whose genetic diversity is unparalleled.”
Part II soon available