UP Manila Chancellor — Carmencita David Padilla

birth.

These researches provided the bases for RA 9288 or the Newborn Screening Act of 2004 which obligated all persons attending to the delivery of babies to inform parents of the necessity of newborn screening and also mandated the inclusion of NBS in the package for national health insurance.

Genes determine our body and mental makeup and control our bodily functions. However, genes mutate or are altered spontaneously now and then. Many mutations are benign but many more are deleterious. And they are inherited and passed down from parents to offsprings.

Certain bad mutations can cause disorders in metabolism which can lead to mental retardation, various disease conditions, and early death. Babies with these congenital disorders usually look normal and the way to detect them is through blood tests immediately at birth. Fortunately, the babies who inherit these bad genes can be saved provided their conditions are detected early and they are given proper treatment.

If all babies were screened at birth, the national Newborn Screening Program can potentially save 33,000 Filipino babies every year.

Although there are as many as 4,000 so-called single gene genetic disorders which have been recognized, the NBS tests only for six of the most common and devastating genetic disorders, namely:

•Congenital Hypothyroidism (CH) – severe mental retardation

•Phenylketonuria (PKU) – severe mental retardation

•Galactosemia (GAL) – death or cataracts

•Congenital Adrenal Hyperplasia (CAH) - death

•Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD Def.)- severe anemia; brain damage; death

•Maple Syrup Urine Disease (MSUD) – death. Genomics and Other Major Contributions Her latest accomplishment is in the conceptualization and organization of the Philippine Genome Center (PGC), established by the UP Board of Regents in 2009. This is a multidisciplinary research and development program involving faculty across all UP campuses focused on health diagnostics, therapeutics, DNA forensics and ethnicity and improvement of crop, livestock, fishery and forest products. The center is also addressing ethics, legal and social issues in the application of the cutting-edge science of genomics on the human condition.

Dr. Padilla also contributed greatly to the establishment of a Registry of Birth Defects which identify the most prevalent defects among children, the causes of some of which are preventable and which defects could be mitigated/overcome.

Dr. Padilla is the founding director of the Institute of Human Genetics in UP Manila. She is the lead geneticist in the epidemiology of genetic polymorphisms in the Filipino population and their association with incidence of cancer.

She was first director at UP Manila of the university volunteer program called Ugnayan ng Pahinungod which at one time fielded as many as 6,000 volunteer UP students, faculty employees and alumni all over the country.

Among the awards she had received were Ten Outstanding Young Men (TOYM) for human genetics in 1994; Lingkod Bayan award from the Civil Service Commission (CSC) in 2004; Outstanding Filipino Physician in 2007 by JCI Senate and DOH, and Dioscoro Umali Leadership medal for science administration by the Department of Science and Technology (DOST) in 2012.

She obtained her bachelor’s degree (cum laude) in 1976, medical degree (1981) and master’s in public health (2005) all from UP. She had fellowships in clinical genetics at the Royal Alexandra Hospital in Alberta, Canada and the Kobe University School of Medicine, Japan. She was elected to the National Academy of Science and Technology in 2008. She has to her credit 150 scientific and technological publications here and abroad.

*** Dr. Emil Q. Javier is a Member of the National Academy of Science and Technology (NAST) and also Chair of the Coalition for Agriculture Modernization in the Philippines (CAMP).

For any feedback , email eqjavier@yahoo.com.