Member Profile
Membership type: affiliate
Sajeewani Pathirana
Country of origin: Sri Lanka Currently in: Sri Lanka, Ganemulla General field of specialization: Structural, Cell and Molecular Biology-
Degrees
2015 Undergraduate Biological Systems and Organisms -
Current Research Activities
Structural, Cell and Molecular Biology
Publications resulting from Research:
1) Sirisena, N. D., Samaranayake, U. M. J. E., Neto, O. L. A., Foley, A. R., Pathirana, B. A. P. S., Neththikumara, N., Paththinige, C. S., Rathnayake, P., Donkervoort, S., Bönnemann, C. G., & Dissanayake, V. H. W. (2021). A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: A case report. BMC Neurology, 21(1), 105. https://doi.org/10.1186/s12883-021-02134-7.
2) Hettiarachchi, D., Panchal, H., Pathirana, BAPS., Rathnayaka, P. D., Padeniya, A., Lai, P. S., & Dissanayake, V. H. W. (2020). Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. Case Reports in Genetics, 2020, 6630300. https://doi.org/10.1155/2020/6630300
3) Pathirana BAPS, Hettiarachchi D, Neththikumara N, Ratnayake P, Dissanayake V. A novel variant in SCN1A gene associated with Dravet syndrome. Seizure - European Journal of Epilepsy. 2019;69:213-214. doi:10.1016/j.seizure.2019.05.003
4) Hettiarachchi D, Pathirana BAPS, Kumarasiri PJ, Dissanayake VHW. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Cotter PD, ed. Case Reports in Genetics. 2019;2019:2687595. doi:10.1155/2019/2687595
5) Hettiaracchchi D, Neththikumara N, Pathirana BAPS, Padeniya A, Dissanayake VHW. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. Case Rep Pediatr. 2018;2018:2731039-2731039. doi:10.1155/2018/2731039
6) Hettiarachchi D, Neththikumara NF, Pathirana BAPS, Dissanayake VHW. Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome. J Autism Dev Disord. 2020;50(1):118-126. doi:10.1007/s10803-019-04230-7
7) Hettiarachchi D, Nethikumara N, Pathirana BAPS, Weththasigha K, Dissanayake WDN, Dissanayake VHW. A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B). Clinical Case Reports. 2018;6(6):1051-1054. doi:10.1002/ccr3.1521
8) Hettiaracchchi D, Wetthasinghe T K, Neththikumara N F, Pathirana BAPS, DissanayakeVHW. A Novel Mutation in the MFN2 Gene Associated with Hereditary Sensory and Motor Neuropathy with Proximal Predominance (HMSN-P)- A Case Report. doi:10.23937/2378-3648/1410039
Workshop and Conference Attended
2018 University of Sri Jayewardenepura & Sri Lanka Association for the Advancement of Science (SLAAS) Three –day workshop in Bioinformatics, Next Generation and Whole Genome sequencing conducted by Dr. Prashanth N. Suravajhala from Birla Institute of Scientific Research, Jaipur, India, June,20182018 Human Genetics Unit, Faculty of Medicine, University of Colombo Workshop on MLPA. MRC-HOLLAND, Netherlands2017 Faculty of Medicine, University of Colombo Workshop on Creativity, Innovation and Intellectual Property, Technology Transfer Office of the Research Promotion and Facilitation Center (RPFC)2017 Human Genetics Unit, Faculty of Medicine, University of Colombo Seminar on Epigenetics, International Council for Science (ICSU), Regional Office for Asia and Pacific (ROAP)2017 University of Colombo RPFC workshop for on Study designs, experimental studies and statistics2017 KDU, Sri Lanka Biomedical Engineering workshop2017 University of Colombo Elsevier author workshop and eBook awareness2020 University of Colombo, Sri Lanka Colombo Medical Congress2019 Sri Lanka Association for the Advancement of Science SLAAS Biotechnology Symposia Series2019 Taj Samudra Hotel, Sri Lanka Sri Lanka Oncologists, Annual Academic Sessions2018 Cinnamon Grand, Colombo, Sri Lanka 3rd Common Wealth Digital Health Conference & Digital Health2017, 2018 University of Colombo, Sri Lanka Annual Research Symposium of University of Colombo2017 Hotel Galadari, Colombo 3rd International Conference on natural products Genomics and drugPresentation given
2020Analysis of large genomic rearrangements in PMS2 and MSH6 genes in a cohort of Sri Lankan patients with hereditary non polyposis colorectal cancer (HNPCC).University of Colombo, Sri LankaEvent: Colombo Medical Congress 20202019Genetic variants contributing to colorectal cancer in a Sri Lankan cohort.Taj Samudra Hotel, Colombo, Sri LankaEvent: Sri Lanka College of Oncologists, Annual Academic Sessions-20192019A descriptive study of germline genetic variants in cancer predisposing genes in a cohort of patients with hereditary breast and ovarian cancer syndromeTaj Samudra Hotel, Colombo, Sri LankaEvent: Sri Lanka College of Oncologists, Annual Academic Sessions-2019
