Silao, Catherine Lynn T.

Institute of Human Genetics
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Research Areas: 
Molecular Basis of Metabolic and Neurologic Disorders
"I worked on the molecular basis of Glucose-6-Phosphate dehydrogenase deficiency (1) and metabolic disorders such as galactosemia, PKU, MMA, MPS, homocystinuria, Maple Syrup Urine Disease (MSUD) among diagnosed Filipino patients (2) and validated a PCR-based test for the genetic diagnosis of Filipino patients with X-Linked Dystonia Parkinsonism (4-8, 9). We also worked on subacute sclerosing panencephalitis which is a complication of measles (3). I presently collaborate with adult and pediatric hematologists in determining the molecular basis of alpha and beta thalassemia in the Philippines, with infectious disease experts in determining the quantitative molecular signatures and predictors of leptospirosis and sepsis in the development of its complications using gene expression markers and pathway analyses and with psychiatrists for the genetic variations and transcriptional signatures of responses to drugs for acute mania in bipolar disorder and schizophrenia among Filipino patients."
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