Project Grant R01HG012284

AFRICAN RARE DISEASES INITIATIVE (ARDI): ADVANCING GENOMIC MEDICINE THROUGH RARE DISEASES RESEARCH IN AFRICA - PROJECT SUMMARY ABOUT 3.5-5.9% OF THE WORLD POPULATION COULD BE AFFECTED BY A RARE DISEASE, CORRESPONDING PROPORTIONALLY TO 3.79-6.39 MILLION PEOPLE IN THE DEMOCRATIC REPUBLIC OF CONGO (DRC). THE DISTRIBUTION OF RARE DISEASES IS NOT UNIFORM ACROSS COUNTRIES OR SUB-POPULATIONS. THIS UNEVEN DISTRIBUTION SUGGESTS THAT EACH COUNTRY OR REGION SHOULD DETERMINE THE FREQUENCY AND DISTRIBUTION RARE DISEASES WITHIN ITS BORDERS AND DEVELOP A PREVENTION, SCREENING, MANAGEMENT, AND ADVOCACY PLAN. INTERESTINGLY, KNOWLEDGE GENERATED IN ONE COUNTRY OR REGION IS HIGHLY IMPORTANT IN ADVANCING GENOMIC MEDICINE IN OTHER COUNTRIES AS WELL. AFRICAN DATA ARE UNDERREPRESENTED IN THE VAST MAJORITY OF REPUTABLE DATABASES. SINCE THE ABILITY TO MAKE DISCOVERIES INCREASES WITH DATA, THIS PAUCITY OF AFRICAN DATA PREVENTS DISCOVERIES IN AFRICA AND IMPROVEMENT OF DIAGNOSTIC AND CARE FOR RARE DISEASES PATIENTS. BESIDES, AFRICAN COUNTRIES SUCH AS THE DEMOCRATIC REPUBLIC OF CONGO (DRC) ARE IN A VERY GOOD MOMENTUM. FIRST, THE GENOMIC DIVERSITY IS HIGHER IN AFRICA. SECOND, THE TECHNOLOGICAL BARRIERS ARE BEING BROKEN WITH THE ADVENT OF THE CLOUD AND THE DEPLOYMENT OF BIOINFORMATICS TOOLS AND OTHER RESOURCES IN THE CLOUD. THIRD, THE MOBILE INTERNET HAS BEEN BROADLY DEPLOYED IN THE DRC AND OTHER SUB-SAHARAN COUNTRIES, WHICH IS FACILITATING ACCESS TO HIGH COMPUTING RESOURCES IN THE CLOUD AND REMOVING THE NEED FOR HEAVY LOCAL INFRASTRUCTURE OR SENIOR BIOINFORMATICIANS TO CONDUCT BIOINFORMATICS ANALYSIS IN SUB-SAHARAN COUNTRIES. FINALLY, THE EXPERTISE FOR RARE DISEASES GENOMICS HAS INCREASED SIGNIFICANTLY IN DRC, LEADING TO MULTIPLE RESEARCH PROJECTS INVOLVING THE ANALYSIS OF GENOMIC DATA BEING PERFORMED IN THE CENTER FOR HUMAN GENETICS OF THE UNIVERSITY OF KINSHASA. HOWEVER, POOR QUALITY DATA LEADS TO WRONG POLICIES. AN EFFORT STILL NEEDS TO BE MADE IN BUILDING NETWORKS TO INCREASE THE QUALITY AND VOLUME OF DATA. THIS REQUIRES THE HARMONIZATION OF TOOLS AND PROCEDURES FOR DATA COLLECTION AND PROCESSING. THE AFRICAN RARE DISEASES INITIATIVE (ARDI) IS DESIGNED TO BE A MODEL OF HOW A SUB-SAHARAN AFRICAN COUNTRY MAY BECOME READY TO ENTER THE GENOMIC MEDICINE ERA AND MAKE SIGNIFICANT CONTRIBUTIONS TO GLOBAL GENOMIC MEDICINE. WE WILL TAKE ADVANTAGE OF THE OPPORTUNITIES LISTED ABOVE. ONCE THIS PROJECT IS COMPLETED, THE FIRST EXPERT NETWORK FOR RARE DISEASES WILL BE EFFECTIVE IN A SUB-SAHARAN AFRICAN COUNTRY AND CONGOLESE PATIENTS WILL HAVE BEEN DIAGNOSED. THE FIRST MOBILE APP AND ELECTRONIC REGISTRY OF AFRICAN RARE DISEASE PATIENTS WILL BE IMPLEMENTED IN A SUB-SAHARAN AFRICAN COUNTRY. THE FEASIBILITY OF ANALYSIS OF GENOMIC DATA FROM AFRICA IN THE CLOUD WILL BE DEMONSTRATED AT A BROADER SCALE. OUR COLLABORATIONS WITH THE UDNI, THE CLINGEN, THE FDNA, THE BAYLOR COLLEGE OF MEDICINE, AND THE BROAD INSTITUTE WILL OFFER ASSURANCE OF THE QUALITY OF DATA GENERATED IN THIS PROJECT. ON THE SCIENTIFIC FRONT, THE EPIDEMIOLOGY AND UNDERLYING GENETICS OF RARE DISEASES IN AFRICA WILL BE REVEALED. WE WILL USE THE PUBLICATIONS, CLINVAR, DECIPHER AND THE ATLAS OF HUMAN MALFORMATION SYNDROMES IN DIVERSE POPULATIONS TO CONTRIBUTE TO THE GLOBAL GENOMIC MEDICINE COMMUNITY. THE REGISTRY WILL ALLOW MORE DISEASE-SPECIFIC RESEARCH TO BE CONDUCTED. THE MODEL DEVELOPED IN THIS PROJECT IS EXPECTED TO BE TAKEN UP BY THE GOVERNMENT AND BE REPLICATED IN COUNTRIES WITH SIMILAR CHALLENGES.