SENEGENE global action
The International Rare Diseases Research Consortium (IRDiRC) vision is to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention [1]. SENEGENE is actively contributing towards this goal in Senegal by increasing the proportion of patients with a precise genetic diagnosis and improving patient care management plans based on genetic results and clinical guidelines. Furthermore, SENEGENE aims connects West Africa with available resources and appropriate networks in Europe and ultimately build capacity and generate local expertise in genomic medicine in line with recent calls for global action in Africa [2].
The IRDiRC goals
Goal 1
All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline
Goal 2
1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options
Goal 3
Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients
References
1. https://irdirc.org/
2. Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M. A call for global action for rare diseases in Africa. Nat Genet. 2020 Jan;52(1):21-26. doi: 10.1038/s41588-019-0552-2. PMID: 31873296.