A biobank in Sri Lanka that links East and West

Abstract

More than 7·5 million children are born annually with either a severe genetic disorder or a birth defect, and nearly 95% of them live in low-income or middle-income countries.1WHOControl of genetic diseases.http://apps.who.int/gb/ebwha/pdf_files/EB116/B116_3-en.pdfDate: April 21, 2005Date accessed: March 20, 2020Google Scholar The 57th World Health Assembly urged Member States to promote genetic services, with a special emphasis on poor countries. Accordingly, we have established an Interdisciplinary Centre for Innovation in Biotechnology and Neuroscience, which is a molecular diagnostic service and training facility dedicated to genetic testing, research, and training at the University of Sri Jayewardenepura, in Nugegoda in Sri Lanka. Our facility was established primarily with donations and grants from the National Institutes of Health (Bethesda, MD, USA) and the University of Sri Jayewardenepura, but with minimal government support. We now have a DNA bank with samples from more than 2000 patients (stroke, 1500 patients;2De Silva KR Gamage R Dunuwille J et al.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.J Clin Neurosci. 2009; 16: 1492-1493Summary Full Text Full Text PDF PubMed Scopus (4) Google Scholar Parkinson's disease, 370 patients;3Wijeyekoon R Suriyakumara V Gamage R et al.Associations between lifestyle factors and Parkinson's disease in an urban Sri Lankan clinic study.Int Arch Med. 2017; (published online Sept 1.)https://doi.org/10.3823/2516Crossref PubMed Google Scholar and approximately 500 healthy controls). The DNA bank has also 620 samples from patients with Duchenne muscular dystrophy, spinal muscular atrophy, limb girdle muscular dystrophy, Huntington's disease, spinocerebellar ataxia, and myotonic dystrophy. We also preserve serum and urine samples from patients with Duchenne muscular dystrophy, spinocerebellar ataxia, and Huntington's disease. We have a brain bank with 76 donated brains, with immunohistochemical staining samples for neuropathological markers associated with dementia-related disorders, and genotyping data on candidate genes for stroke.4Wijesinghe P Shankar SK Yasha TC et al.Vascular contributions in Alzheimer's disease-related neuropathological changes: first autopsy evidence from a south Asian aging population.J Alzheimers Dis. 2016; 54: 1607-1618Crossref PubMed Scopus (14) Google Scholar South Asians are of Indo-European descent, but their genetic variation has not been studied in depth. Located at the southernmost tip of south Asia, along the southern migration route, Sri Lanka has long been inhabited by various ethnic groups, thus offering unique insight into the initial peopling of the subcontinent. Our biorepository also includes biospecimens from three villages in southern Sri Lanka, in which there is a high prevalence of spinocerebellar ataxia type 1, in a patient population sharing a common ancestry; identical twins with Duchenne muscular dystrophy and a family with limb girdle muscular dystrophy type 2A with consanguinity over three generations; and samples from a Parkinson's disease cohort that includes 35% of patients having a young onset (<50 years old), and patients with pesticide and herbicide exposure (7%). Our goal is to foster research and education initiatives for the inherited-diseases community through international collaboration using this novel biobank that can link the East and West. NW and LG contributed equally. We declare funding from the Muscular Dystrophy Association (Washington DC, WA, USA), WHO, the World Class University Grant project (University of Sri Jayewardenepura, Sri Lanka; grant numbers WCUP/PhD/19 and WCUP/PhD/19B), the Ministry of Primary Industries (Sri Lanka; grant number SP/CIN/2016/02), the Sri Lanka Council for Agriculture Research Policy Project Sri Lanka (grant number 12/684/515), Sri Lanka National Science Foundation (grant number RG 2000/M/16), the University of Sri Jayewardenepura (grant number _ASP/06/RE/ 2010/07), and the International Brain Research Organization of the Asia Pacific Regional Committee; and equipment from the National Institutes of Health (Bethesda, MD, USA). We thank the patients and their family members for taking part in the Biobank.