TY - JOUR
T1 - Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka
T2 - A wealth creation
AU - Gonawala, Lakmal
AU - Wijekoon, Nalaka
AU - Attanayake, Darshika
AU - Ratnayake, Pyara
AU - Sirisena, Darshana
AU - Gunasekara, Harsha
AU - Dissanayake, Athula
AU - Keshavaraj, Ajantha
AU - Mohan, Chandra
AU - Steinbusch, Harry W.M.
AU - Hoffman, Eric P.
AU - Dalal, Ashwin
AU - de Silva, K. Ranil D.
N1 - Funding Information:
The Corresponding author in Sri Lanka received funding from the Muscular Dystrophy Association, Washington DC, USA (Grant Number FMS/7090/2010); the World Health Organization (Grant Number 2010/81594-0); the World Class University Grant Project (University of Sri Jayewardenepura, Sri Lanka; Grant Number WCUP/Ph. D./19/2013 and WCUP/Ph.D./19B 2013); the Ministry of Primary Industries, Sri Lanka (Grant Number SP/CIN/2016/02); the University of Sri Jayewardenepura (Grant Numbers ASP/06/RE/2010/07, ASP/06/RE/2012/18, ASP/06/RE/2013/28); General Sir John Kotelawala Defence University, Sri Lanka (Grant Numbers KDU/RG/2021/CARE/005 and KDU/RG/2021/CARE/006); and the Interdisciplinary Center for Innovation in Biotechnology and Neuroscience, University of Sri Jayewardenepura (ICIBN/ USJ). The equipment was donated by the National Institutes of Health (Bethesda, MD, USA) through IBRO-APRC and by the Chinese Neuroscience Society. Moreover, the corresponding author received funding from the IBRO-APRC and the International Society for Neurochemistry for international training scholarships for postgraduates and neuroscience workshops in Sri Lanka.
Publisher Copyright:
© 2024, The Author(s).
PY - 2024
Y1 - 2024
N2 - The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro bono cost-effective national, island-wide, free-of-charge molecular diagnostic service, suggesting a model for other developing countries. The project provided 637 molecular diagnostic tests and reports free of charge to a nation with limited resources. We pioneered the implementation of mobile clinics and home visits, where the research team acted as barefoot doctors with the concept of the doctor and the researcher at the patient's doorstep. Establishing pro bono, cost-effective molecular diagnostics is feasible in developing countries with limited resources and state funding through the effort of dedicated postgraduate students. This service could provide an accurate molecular diagnosis of Duchenne muscular dystrophy, Huntington's disease, Spinocerebellar ataxia, and Spinal muscular atrophy, a diagnostic yield of 54% (343/637), of which 43% (147/343) of the patients identified as amenable for available gene therapies. Initiated human resource development by double doctoral degree opportunities with international collaborations. Established a neurobiobank and a national registry in Sri Lanka, a rich and unique repository, wealth creation for translational collaborative research and sharing of information in neurological diseases, as well as a lodestar for aspiring initiatives from other developing countries.
AB - The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro bono cost-effective national, island-wide, free-of-charge molecular diagnostic service, suggesting a model for other developing countries. The project provided 637 molecular diagnostic tests and reports free of charge to a nation with limited resources. We pioneered the implementation of mobile clinics and home visits, where the research team acted as barefoot doctors with the concept of the doctor and the researcher at the patient's doorstep. Establishing pro bono, cost-effective molecular diagnostics is feasible in developing countries with limited resources and state funding through the effort of dedicated postgraduate students. This service could provide an accurate molecular diagnosis of Duchenne muscular dystrophy, Huntington's disease, Spinocerebellar ataxia, and Spinal muscular atrophy, a diagnostic yield of 54% (343/637), of which 43% (147/343) of the patients identified as amenable for available gene therapies. Initiated human resource development by double doctoral degree opportunities with international collaborations. Established a neurobiobank and a national registry in Sri Lanka, a rich and unique repository, wealth creation for translational collaborative research and sharing of information in neurological diseases, as well as a lodestar for aspiring initiatives from other developing countries.
U2 - 10.1038/s41431-023-01525-3
DO - 10.1038/s41431-023-01525-3
M3 - Article
SN - 1018-4813
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
ER -