ARDI OBJECTIVES
We are building a collaborative infrastructure for
rare disease research in Africa.
Network development.
Establish a multidisciplinary network
for rare diseases.
Development of the
harmonized electronic file.
An electronic registry of rare diseases.
Development of a
mobile application.
A mobile app and website
to connect patients to healthcare systems.
Strengthen the number and capacity of
health personnel for rare diseases in Africa.
Training
Establish a multidisciplinary network
for rare diseases.
Consultation and Genetic Analysis
Strengthen the capacity of doctors
for rare diseases
Use Whole Genome Sequencing (WGS) to
diagnose at least 300 families with Rare Diseases, generate and disseminate clinical and genomic knowledge on rare diseases in Africa
Identify families via the Application, the Website and network sites.
Offer in- person and virtual consultations.
Perform sequencing
Report results and implement support.
Disseminate knowledge
African Rare Diseases Initiative is funded by the National Human Genome Research Institute as part of the Advancing Genomic Medicine Research (AGMR) program.
HOW IT WORKS
MAKING CONTACT
Submit a request via the mobile app, website or a partner hospital. Patients identified via an online application will be referred to the geographically closest project site.
CONSULTATION
The clinical consultation will include extensive clinical and family data collection, as well as laboratory and medical imaging. A genetics specialist will supervise remote consultations via telemedicine.
SAMPLING
Patients meeting inclusion criteria will be invited for consent and sampling. Only the consenting trio (proband and both biological parents) will be selected for WGS. Each parent will consent for themselves and one parent will consent for the proband. Other affected members may be included in testing if decided at the clinical review meeting. Consent will also be specifically requested for the return of secondary results.
SEQUENCING
The DNA will be extracted at the molecular laboratory of the Human Genetics Center of the University of Kinshasa. Clinical whole-genome sequencing will be performed at Baylor College of Medicine (BMC) with the same CLIA-validated assay also used for the All of Us AoURP research project (www.allofus.nih.gov).
DATA ANALYSIS
Entirely produced by the ARDI team and locally in Kinshasa.
GENETIC COUNSELING
Will be carried out at the project sites and in the language of convenience for patients/families. Key findings will be communicated to families and translated into changes in care. If an individual has consented to secondary outcomes (SF), only pathogenic and likely pathogenic variants will be returned as SF. At the request of the patient/parents, the results will be discussed with designated family members.
Data Snapshot
Recruitment evolution
Sequencing evolution
Diagnostic
Spotlight & Agenda
Partners
