Padilla, Carmencita D.
Genetics
Health Sciences
Academician
Dr. Carmencita D. Padilla is recognized for her significant contributions to medicine, especially in the field of genetics, specifically, newborn screening for genetic disorders in the Philippines. Under her leadership, studies were conducted on prevalence and cost benefits analysis of a national program for newborn screening to prevent mental retardation and death from certain congenital disorders detectable at birth which provided the basis for the enactment of RA9288 or the Newborn Screening Act of 2004. Other important researches she has undertaken with students and co-workers include: identification of mutations causing the maple syrup urine disease (MSUD) among Filipinos and development of early detection analytical techniques; development and implementation of a Birth Defects Registry started in 1999 which aimed at identifying preventable causes and establishing programs for early identification and better quality of life for affected Filipino patients; and molecular epidemiological study to assess association between genetic polymorphism and cancer risk. Dr. Padilla helped craft the newborn screening bill and pushed for its enactment into law.