Research Faculty


Newborn Screening Reference Center

Research Areas:   Clinical Genetics

                             Osteogenesis Imperfecta and other Skeletal Dysplasias

                             Newborn Screening

                             Birth Defects

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My involvement with the Institute of Human Genetics and the Newborn Screening Reference Center enables me to work on genetic conditions like skeletal dysplasias and metabolic conditions screened for in the Philippine Newborn Screening Program.  I am interested in researches focusing on improving the outcomes of affected individuals with these inherited conditions.


  1. M. B. Alcausin, J. Ault, V. Pacey, J. Briody, M. McQuade, C. Bridge, R.H.H. Engelbert, D. O. Sillence, C. F. Munns. Intravenous Pamidronate Treatment In Children With Moderate To Severe Osteogenesis Imperfecta Started Under Three Years Of Age. Horm Res Paediatr. 2013 May 31.
  2. Alcausin MB, de Dios, JKL, Chiong MD, Cavan BCV, Padilla CP, Silao CLT, dela Paz EMC.  Intravenous Pamidronate Treatment in Filipino Children with Moderate to Severe Osteogenesis Imperfecta. Acta Medica Philippina. 2011 Oct;45 (4):35-39.
  1. Laurino MY, Padilla CP, Alcausin MB, Silao CLT, dela Paz EMC.  A Master of Science in Genetic Counseling Program in the Philippines. Acta Medica Philippina. 2011 Oct;45 (4):7-9.
  1. Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.
  2. Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A. 2010 Sep 9. [Epub ahead of print]


Institute of Child Health and Human Development

Research Areas:    Vaccines

                              Infectious Diseases         

                              Childhood diseases

                              Public health


My previous work with oral cholera vaccine (OCV) has led to its licensure in India and eventual WHO-prequalification, allowing UN agencies to purchase the OCV. The OCV is now used as an additional tool for cholera control cholera epidemic and endemic settings. I have also worked in various aspects of OCV and other vaccines’ programmatic implementation and effectiveness studies. The results of some of these studies have been used as the basis for national and international policies and guidelines.


  1. Lopez AL, Macasaet LY, Ylade M, Tayag EA, Ali M. Epidemiology of cholera in the Philippines. PLoS Negl Tropical Dis 2015;9:e3440 DOI: 10.1371/journal.pntd.0003440
  2. Lopez AL, Aldaba JG, Roque VG Jr, Tandoc AO III, Sy AK, et al. Epidemiology of Japanese Encephalitis in the Philippines: A Systematic Review. PLoS Negl Trop Dis. 2015 Mar 20;9(3): e0003630. doi:10.1371/journal.pntd.0003630
  3. Deen J, von Seidlein L, Luquero FJ, Troeger C, Reyburn R, Lopez AL, et al. The scenario approach for countries considering the addition of oral cholera vaccination in cholera preparedness and control plans. Lancet Infect Dis 2015; doi:10.1016/S1473-3099(15)00298-4.
  4. Martin S, Lopez AL, Bellos A, Deen J, Ali M, Alberti K, et al. Post-licensure deployment of oral cholera vaccines: a systematic review. Bull World Health Organ 2014;92:881–893: doi:
  5. Anh DD, Lopez AL, Tran HT, Cuong NV, Thiem VD, et al. (2014) Oral cholera vaccine development and use in Vietnam. PLoS Med 11: e1001712.
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