Silao, Catherine Lynn T.

Institute of Human Genetics
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Research Areas: 
Molecular Basis of Metabolic and Neurologic Disorders
Molecular Genetics
Dr. Catherine Lynn T. Silao is a Consultant of the Department of Pediatrics UP-PGH and of the National Institutes of Health and is a Fellow of the Philippine Pediatric Society. She obtained her doctoral degree at the Kobe University Graduate School of Medicine, Kobe, Japan where she did work on the molecular basis of Glucose-6-Phosphate dehydrogenase deficiency (1) and of Maple Syrup Urine Disease (MSUD) among clinically diagnosed Filipino patients (2). Her discovery of a founder mutation in Filipino MSUD patients now allows the early diagnosis of the disease via a PCR based detection method (4). Aside from MSUD, she has done molecular characterization of other metabolic disorders – such as galactosemia, PKU, MMA, MPS, homocystinuria – diagnosed in Filipino patients picked up through the Philippine Newborn Screening Program and has validated a PCR-based test for the genetic diagnosis of Filipino patients with X-Linked Dystonia Parkinsonism. She also has done work on subacute sclerosing panencephalitis which is a complication of measles and on the quantitative molecular signatures and predictors of leptospirosis and sepsis in the development of its complications using gene expression markers and pathway analyses. She presently collaborates with adult and pediatric hematologists in determining the molecular basis of alpha and beta thalassemia in the Philippines. Her works have been published in several local and international journals and has received both local and international recognition awards.
Relevant Publications: 

1. Silao CLT, Shirakawa T, Nishiyama K, Padilla C, Matsuo M. Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos. Pediatr Int 1999;41:138-141

2. Silao CLT, Padilla CD, Matsuo M. A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino Maple syrup urine disease. Mol Genet Metab 2004;81:100-104

3. Pipo-Deveza JR, Kusuhara K, Silao CLT, Lukban MB, Salonga AM, Sanchez BC, Kira R, Takemoto M, Torisu H, Hara T. Analysis of MxA, IL-4, and IRF-1 genes in Filipino patients with subacute sclerosing panencephalitis. Neuropediatrics 2006;37(4):222-228

4. Lee JY, Chiong MA, Estrada SC, Cutiongco-dela Paz EM, Silao CLT, Padilla CD. Maple syrup urine disease (MSUD) – Clinical profile of 47 Filipino patients. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S281-5.

5. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry G, Bosch A, Burlina A, Chiesa A, Pico M, Estrada SC, Henderson H, Leslie N, Longo N, Morris A, Ramirez-Farias C, Schweitzer-Krantz S, Silao CLT, Vela-Amieva M, Waisbren S, Fridovich-Kiel J. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention and outcomes. J Inherited Metab Dis 2012;35(6):1037-49