Director, Newborn Screening Reference Center (NSRC)

Dr. Maria Melanie Liberty B. Alcausin

Director, Newborn Screening Reference Center (NSRC)

Contact number: 302-3957

Other Positions Held: 

Clinical Associate Professor, Department of Pediatrics, University of the Philippines-Philippine General Hospital

Adviser, North Luzon Cluster  Birth Defects Surveillance, Institute of Human Genetics, National Institutes of Health - University of the Philippines Manila

Program Coordinator,   Telegenetics Referral System,  Institute of Human Genetics, National Institutes of Health - University of the Philippines Manila

Program Coordinator,   Master in Genetic Counseling, College of Medicine, University of the Philippines, Manila

Consultant, Section of Genetics, Department of Pediatrics;  

                  Bisphosphonate Management Service UP-PGH  Medical Center for Osteogenesis Imperfecta


Medical internship - Univeristy of the Philippines - Philippine General Hospital, 1998-1999

Doctor of Medicine - University of the East Ramon Magsaysay Memorial Medical Center,  1994-1998

BS Biology, University of the Philippines Diliman, 1990-1994

Recent 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. [Epub ahead of print]
  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]
  6. Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ.  Familial Aicardi-Goutieres Syndrome due to SAMHD1 mutation is associated with chronic arthropathy and contractures. Am J Med Genet A. 2010 Apr;152A(4):938-42.
  7. Grace David-Vizcarra, Julie Briody, Jenny Ault, Michael Fietz, Janice Fletcher, Ravi Savarirayan, Meredith Wilson, Jim McGill, Matthew Edwards, Craig Munns, Melanie Alcausin, Sara Cathey, David Sillence. The Natural History and Osteodystrophy of Mucolipidosis Types II and III. Journal of Paediatrics and Child Health  2010.
  8. Conchita Abarquez, Maria Melanie Alcausin, Carmencita Padilla, Eva Maria Cutiongco-de la Paz. A Five-Year Review of Cases Referred to the Genetics Clinic, PGH for Findings of Congenital Anomalies on Prenatal Ultrasound. Acta Medica Philippina. 2009; 43(1)22-28.
  9. Maria Melanie Alcausin, Pamela Fajardo, Catherine Lynn Silao, Amy Goleta-Dy, Eufrosina Melendres, Eva Maria Cutiongco-de la Paz, Carmencita Padilla.  Genetic Polymorphisms of Glutathione S-Transferase P1, T1, M1 in Pediatric Patients with Acute Lympjocytic Leukemia in a Philippine Tertiary Hospital. Acta Medica Philippina. 2008; 42(2):22-26.