In the frame of our collaboration, we have produced a video tutorial for the correct use of the sweat test device for diagnosing CF.
Cystic fibrosis (CF) is a multisystemic genetic disorder caused by mutations in the gene that codes for the chloride channel CFTR. It is hence classified as a genetic channelopathy. CF is the most common monogenic recessive disorder in the European descent population. Since a few years, we understand much about the structure and function of the channel, and new drugs are revolutionizing patient treatment. Specifically, CF illustrates well the precision medicine concept, as drug treatments are based on the specific mutations identified in a patient’s gene.
However, there is a significant knowledge gap regarding CF in non-European descent populations. Our new project focuses on CF in African populations. Only a handful of case reports with patients from the African continent have been published, and apart from South Africa, no African country maintains a registry of CF patients. The Democratic Republic of the Congo has a population of about 100 million, yet no one has been diagnosed with this disease there. Our project aims to address this substantial knowledge gap on the African continent. We collaborate with colleagues from three university hospitals: Fès in Morocco, Kinshasa in DRC, and Nairobi in Kenya.
Our research program encompasses everything from patients to drugs. Our plans include:
1) Building cohorts of CF-suspected patients.
2) Performing the standard sweat test.
3) Genotyping (sequencing the complete CFTR gene) patients with positive or borderline sweat test results.
4) Establishing the pathogenicity of the discovered CFTR variants.
5) Testing the in vitro efficacy of CFTR modulator drugs.
Our project is currently funded through a Ph.D. scholarship from the Swiss Confederation for Nada El Makhzen, who is developing a DNA sequencing protocol for the complete CFTR gene. She is developing this protocol on DNA samples from patients followed at the University of Fès, Morocco, in collaboration with Prof. Laila Bouguenouch. We have also obtained three Nanoduct devices, enabling our colleagues to perform sweat tests on suspected CF patients. A significant portion of the financial support for these devices came from a crowdfunding campaign titled “Cystic Fibrosis in Africa“. One such device is now at the University of Kinshasa, thanks to our collaboration with Prof. Gerrye Mubungu.
We intend to submit additional proposals to obtain further funding for this project.
