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.


  1. To provide services that allow definitive diagnosis and early detection of potentially treatable genetic conditions;
  2. To promote health by understanding the genetic basis of common diseases in the Filipino population through basic and clinical research;
  3. To propagate awareness about common genetic conditions through educational programs among physicians and the general public;
  4. To provide technical information for policy recommendation to help advance the national health agenda.

Research Programs:

- Ongoing

Research Program Title: Microarray-Based Researches on Genetic Susceptibility to Diseases, Gene Expression Profiling and Population Variations among Filipinos.

Under this research program are the following projects:

Project 1: Identification of Disease Susceptible Genes in Filipino Subacute Sclerosing Panencephalitis Patiens.

Project 2: Pan-Asian Single Nucleotide Polymorphism (SNP) Initiative.

Project 3: The Prevalence of CYP2D6 Gene Polymorphism among Filipinos and their use as Biomarkers.

Submitted for Funding

  1. Program Title: Genomic Researches on Hypertension, Coronary Artery Disease and Dyslipidemia towards the Development of Individualized Diagnostic and Therapeutic Strategies

    Project Title:

    • Pharmacogenomic studies on commonly prescribed drugs for Filipinos with hypertension, dyslipidemia, and coronary artery disease
    • The prevalence of genetic polymorphisms associated with the risk for the development of hypertension, dyslipidemia, and coronary artery disease among Filipinos
  2. Program Title: Genomic Association Studies in Filipinos on Treatment, Diagnosis and Risk Assessment of Type 2 Diabetes Mellitus and its Related Medical Conditions

    Project Title:

    • Evaluation of Candidate Genomic Variations as Pharmacogenetic Markers for Commonly Used Oral Hypoglycemic Agents among Filipinos
    • Correlation of Candidate Genomic Variations for Susceptibility and Risk Assessment3 years of Type 2 Diabetes Mellitus and its Related Medical Conditions among Filipinos
    • Transcriptional profiling and pathway analyses for complications of type 2 diabetes mellitus

Research Projects:

- Ongoing:

  1. Genotype and Phenotype Characteristics of Filipino Families with Familial Hypercholesterolemia of Novel LDL-R Gene Mutation.
  2. Adiponectin Gene Polymorphism and Its Association with Hypoglycemia and other Cardiovascular Risk Factors among Filipinos.
  3. Analysis of p53 and ras mutations as Biomarkers for Cancer Risk among Filipino.
  4. Molecular Characterization of Beta Globin gene in Filipino Beta Thalassemia patients.
  5. Molecular Characterization of Homocysteine gene in Filipino patients.
  6. Molecular Characterization of the GALT gene in Filipino patients with Classical Galactosemia.
  7. Molecular Characterization of the GALK and GALE genes in Filipino Patients with Non-Classical Galactosemia.
  8. Association of Chromosome 22q11 deletion among Filipino Children with Conotruncal Heart Disease.
  9. Association of rs 17095355 Polymorphism and Extrahepatic Biliary Atresia among Filipinos.
  10. Clinical and Molecular Characterization of Children with Osteogenesis Imperfecta Seen at the Philippine General Hospital.
  11. Pilot implementation of Preconception Health Care in an Urban and Rural Setting in Lipa City.
  12. Birth Defects Surveillance.

Research Projects:

- 2011-2012:

  1. Association of TNF-alpha G(-308)A promoter polymorphism with Idiopathic Neonatal Hepatitis among Affected Filipino Children.
  2. Association of CD14 promoter polymorphism and Idiopathic Neonatal Hepatitis among Filipinos.

Extension Service:

  • Cytogenetic Services
  • Clinical Genetics
  • Newborn Screening
  • Molecular / Cancer
  • Biochemical Genetics

Intramural Collaborations (within UPM)

- 2011-2012:

  • Institute of Molecular Biology and Biotechnology (IMBB) – NIH-UPM

Program Title: TB Genomics and Diagnostics Program

Local Collaborations (MOA, MOU)

- Existing:

  1. Philippine Council for Health Research and Development – Department of Science and Technology
    • Funding Agency of Research Programs
  2. Department of Health
    • implementation of NBS Program

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Email Address:
Contact Number: 
Tel. 526-1725/525-7459/307-0780