Alcausin, Maria Melanie Liberty B.

Newborn Screening Reference Center
Email Address:
Research Areas: 
Clinical Genetics
Osteogenesis Imperfecta
Other Skeletal Dysplasias
Newborn Screening
Birth Defects
"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."
Relevant Publications: 

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.

3. 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.

4. 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.

5. 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]