Institute of Human Genetics
The Institute of Human Genetics was created on February 25, 1999 to promote pioneering and socially relevant clinical researches and increase awareness and consciousness of genetic disorders among physicians, scientists and the public. It also provides services that will allow definitive diagnosis and early detection of potentially treatable genetic conditions. Ultimately, the Institute aims to be the center for excellence in comprehensive, quality genetic services, training and research committed to the improvement of the quality of life of Filipinos. The Institute was created during the 1129th meeting of the UP Board of Regents on 25 February 1999 to promote health by understanding the genetic basis of common diseases in the Filipino population through diagnosis and early detection of potentially treatable genetic conditions and implement educational programs that will increase awareness of physicians and the general public on common genetic conditions and their prevention. Now an ISO 9001:2008-certified facility and with more services to offer, it continuously finds ways to improve and make its services more accessible to more Filipinos.
An internationally-recognized center for excellence in genetics committed to quality research and services accessible to all Filipinos and the world using state of the art and relevant technology
- To provide services that allow definitive diagnosis and early detection of potentially treatable genetic conditions;
- To promote health by understanding the genetic basis of common diseases in the Filipino population through basic and clinical research;
- To propagate awareness about common genetic conditions through educational programs among physicians and the general public;
- To provide technical information for policy recommendation to help advance the national health agenda.
Laboratories and Units
Biochemical Genetics - a specialized laboratory that renders services for the diagnosis and clinical management ofinborn errors of metabolism (IEM). The laboratory started in 2001. Locally-available tests are offered, as well as overseas tests for some highly specialized diagnostic tests.
Clinical Genetics and Research - provides comprehensive clinical evaluation, appropriate therapeutic management and genetic counseling services to families or individuals with or at risk for an inheritable disorder including patients confirmed to have a disorder included in the expanded newborn screening panel and pre-natal patients whose congenital anomaly scans are suggestive of a possible genetic disorder.
Cytogenetics - In 1991, Cytogenetics Laboratory was started at the Medical Genetics Unit of the University of the Philippines College of Medicine. This unit eventually became the Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila (IHG-NIH-UPM) in 1999 that provides comprehensive diagnostic services for postnatal congenital and neoplastic/oncologic disorders
Hemoglobinopathy Reference Unit - Newborn screening for hemoglobinopathies uses 2 machines: High Performance Liquid Chromatography (HPLC) for the initial screen and Capillary Electrophoresis (CE) for confirmation. Hemoglobinopathies are best diagnosed using at least 2 machines or methods. DNA analysis which is mandatory in most cases may be done at IHG-NIH, UP Manila.
Microarray Core Laboratory - Microarray is a technique used to detect multiple target sequences in an organism’s genome. It can genotype multiple regions in the DNA (deoxyribonucleic acid), can be used to measure expression levels of large number of genes using RNA (ribonucleic acid) simultaneously, and it can also detect changes in DNA methylation. These applications can be used to: look for biomarkers associated with certain conditions; seek molecular targets for manipulation; and explain molecular processes related to a trait.
The Molecular Genetics Unit - is primarily engaged in research that aims to study the basis of common genetic diseases. Using relevant technology, our studies seek to gain knowledge that can be translated to the improvement of diagnosis and treatment of diseases that are unique and common to Filipinos. To this end, our unit also offers services that will aid health researchers in their studies. We also offer patient services for the screening and diagnosis of particular diseases.
Newborn Screening Center-NIH - Established in 1997, the Newborn Screening Center—NIH is the first Department of Health (DOH) accredited Newborn Screening Facility in the country providing the most advanced newborn screening test that can now screen for more than twenty disorders with Expanded Newborn Screening.
Mary Anne D. Chiong, MD, MsC, FPPS
April Grace D. Berboso, MD, DPPS - Genetics Services, Training and Research
Program Coordinators and Consultants
Dr. Carmencita D. Padilla - Head, Cytogenetics Laboratory
Dr. Eva Maria Cutiongco-de la Paz - Head, Clinical Genetics and Research Unit
Dr. Mary Anne D. Chiong - Head, Biochemical Genetics Laboratory
Dr. Catherine Lynn T. Silao - Head, Molecular Genetics Laboratory
Dr. Jose B. Nevado, Jr. - Head, Microarray Core Laboratory
Dr. Ana Lea Elizaga - Head, Newborn Screening Center - NIH
Dr. Sylvia C. Estrada - Pediatric Endocrinologist Follow-up Consultant
Dr. Maria Melanie Liberty B. Alcausin - Medical Specialist on Skeletal Dysplasia
Dr. Mary Ann R. Abacan - Clinical Geneticist and Metabolic Specialist