Autism
Autism is a neurodevelopmental disorder of early brain development that affects at least 1 in 500 people. It is characterized by communication problems, difficulty with normal social interactions, and a tendency to repeat specific patterns of behavior. Because these symptoms and behaviors can vary greatly among individuals, doctors consider autism to be a spectrum disorder--a group of disorders with various degrees of impairment for the set of similar features.
 
Although there is no cure, there are educational and drug interventions that can help individuals with autism. Current research findings suggest that autism has a strong inherited component. Scientists think the disorder is the result of a complex interaction between several different genes involved with brain signaling and development. Unknown factors in a child's surroundings are also likely to play a role.
 
The Institute of Human Genetics together with the Philippine Society for Developmental and Behavioral Pediatrics have recently convened an Autism Study Group to systematically register patients and their families with autism. The families themselves will provide the necessary data needed to explore the many ways these gene-environment interactions occur in the development of autism.

Bipolar
Bipolar disorder is a serious psychiatric condition that brings about extreme changes in mood, energy and functioning of an individual. It is the 6th leading cause of disability in the world, affecting around 3% to 4% of the population worldwide. Medications and psychotherapies are now available to address the condition. This condition is believed to run in families, linking it to possible genetic cause.
 
The Bipolar Disorder Research Consortium of the Philippines is comprised of psychiatrists, geneticists and socio-cultural anthropologists. It has a variety of research approaches used for better understanding of the disorder—genetic investigations, epidemiological studies, socio-cultural and clinical research. It believes that better treatments and ways to prevent and cure the illness will be found only through careful scientific study

Birth Defects
Congenital anomalies continue to be in the top 10 causes of infant mortality in the Philippines for the past 50 years. All newborns with single or multiple birth defects are all put under this category. Until the present times, there are no clear details on the types of birth defects and the causes are generally unknown. Establishing a surveillance program to provide incidence rates and other important information about birth defects are deemed necessary in determining the etiologies of birth defects in the local setting.

To address this need, the Philippine Birth Defects Surveillance Study Group was established in 2008. The study group is spearheading the establishment of a surveillance program for newborns with birth defects in every hospital in the country. The group started with 32 participating facilities and has expanded to another 42 facilities last January 2009. Another 64 facilities are targeted to be included in the study group by the year 2010. The Philippine Birth Defects Surveillance Project is envisioned to cover all babies born in health facilities and at home. The project is a collaboration of the IHG-NIH-UP and the National Center for Disease Prevention and Control of the Department of Health. It is partly supported by the March of Dimes Foundation, USA.

Cancer Genetics
Cancer is the third leading cause of morbidity and mortality in the Philippines. Leading cancer sites/types are lung, breast, cervix, liver, colon and rectum, prostate, stomach, oral cavity, ovary and leukemia. There is at present a low cancer prevention consciousness and most cancer patients seek consultation only at advanced stages. Cancer survival rates are relatively low. The Institute of Human Genetics along with physicians and scientists from the Philippine General Hospital, Jose R. Reyes Medical Center, Lung Center of the Philippines, Ospital ng Maynila, Medical Center Manila, East Avenue Medical Center and Corazon Locsin Montelibano Memorial Medical Regional Hospital conducted a molecular epidemiology study to determine the association of specific genetic polymorphisms with risks of cancer to the lung, breast, colon and rectum and oral cavity. This is important in identifying Filipinos who may be at increased risk of developing cancer. Screening for genetic polymorphisms found to increase cancer risk allows health care providers to develop interventions for their patients and can lead to a decrease in cancer mortality and morbidity.
 
The study was funded by the Department of Science and Technology, Philippine Council for Health Research and Development and the UP College of Medicine Research Implementation and Dissemination Office.

Cardiovascular Genetics
In the Philippines, cardiovascular diseases are the leading cause of mortality, and rank among the top ten causes of morbidity for both genders. This trend is especially alarming since these diseases are considered to be preventable and therefore complications arising from these should be avoidable.

The study group made up of cardiologists and geneticists explores the genetic basis of common but complex types of diseases particularly, cardiovascular disease prevalent among Filipinos. Investigations are underway on how this knowledge can be used to promote disease prevention and improve health care. The group has internationally published articles on LDL-R gene mutations in Filipino families with Familial Hypercholesterolemia and polymorphisms in the Cholesteryl Ester Transfer Protein (CETP) gene and its association with cardiovascular disease among Filipinos.

Clefting Genetics
Craniofacial anomalies in general and clefts of the lip and/or palate (CLP) particularly, are among the most common human birth defects. These abnormalities require significant surgical, dental, speech and behavioral interventions and impose substantial economic and societal burdens. More than 400 syndromes, chromosomal abnormalities and teratogenic (environmental) exposures are known to result in clefts.

The Phenotype and Genetics in Oral-facial Cleft in Families Study Group was established to do a more intensive research on the genetic aspects of clefting. Findings from the study can be used to improve diagnosis and prevention methods of complex human craniofacial disorders. In order to achieve its objectives, the following strategies will be employed by the study group: 1) Screen individuals affected with cleft lip and palate, first degree relatives and unaffected controls for specific subphenotypes; 2) Study the relationships between subphenotypes and demographic and family variables and; 3) Obtain DNA samples from subjects screened for subphenotypes to enhance gene-gene and gene-environment studies. Around 200 families will be recruited for this endeavor.

This study is in collaboration with the United States Department of Health & Human Services, National Institutes of Health and Craniofacial Anomalies Research Center through Dr. Jeffrey C. Murray.

Diabetes Mellitus
Diabetes is a chronic and possibly incapacitating condition that is prevalent in the Philippines. There are two types of diabetes: type 1 and type 2. Type 1 diabetes is an autoimmune, childhood-onset disease wherein an individual does not produce insulin. It affects about 500,000 children 14 years and below and this number is said to be rising by 3% annually. Type 2 diabetes, on the other hand, is a metabolic disorder due to insulin resistance. This type of diabetes is said to affect 20.6% or one out of every five Filipinos who are 30 years old and above. Because of the continuous increase of the number of people afflicted with this condition, a lot of attention has been given to its prevention and cure.

Gene variations that signal disease sequences in diabetes are of special interest to the Diabetes Study Group. Specialists are working together to discover the link between genes and the environment that lead to diabetes and its complications. The group has looked at associations between genetic problems (mutations and polymorphisms) and diabetes among Filipinos.

Kawasaki disease
Kawasaki disease is an acute febrile illness that occurs most frequently in young children. It was initially thought to be benign self-limited illness but is now known to lead to aneurysm and other cardiac complications and may be fatal.

The study group is composed of pediatric specialists from the fields of cardiology, rheumatology, immunology, genetics and infectious disease. The study group aims to establish a multi-center registry of diagnosed cases of Kawasaki Disease and their families in the country; to determine the demographic profile, clinical profile and outcome of patients with Kawasaki Disease in the Philippines; and to identify host susceptibility factors for Kawasaki Disease among Filipinos in collaboration with the International Kawasaki Disease consortium. The group is also organizing biennial national symposium on Kawasaki Disease targeting both health providers and families affected with Kawasaki Disease.

Nutrigenomics
Nutrigenomics studies the functional interactions of food and its components with the genome at the molecular and cellular levels, as well as the systemic level, with the goal of using diet to prevent or treat disease. It deals with the identification and characterization of gene variants associated with the differential responses to nutrients. The goal is to generate recommendations regarding the risks and benefits of specific dietary components to the individual, i.e. personalized nutrition. This new field aims to figure out individual genetic ‘nutrition labels’.

The Food Nutrition Research Institute and the Institute of Human Genetics formed the Philippine Nutrigenomics Study Group to formulate a national platform on nutrigenomics research and development that will improve the health status of the Filipino population. Specifically, to prioritize areas for nutrigenomics research and development, to put together proposals from different disease components to formulate a national platform, to conduct the different researches through collaboration of different institutions, and to make policy recommendations based on research output.

Oral Cleft
Oral clefts are among the most common congenital anomalies. Various literature estimate global incidence of oral clefts at 1 every 500-1000 live births, which varies with race and gender. Asians in particular, are at a higher risk for oral clefts. The prevalence of oral cleft (cleft lip with or without cleft palate) in the Philippines was reported in 1997 as 2 per 1000 livebirths. Representatives from the IHG-NIH-UP, the Philippine Association of Plastic, Reconstructive and Aesthetic Surgeons Inc. (PAPRAS); the Philippine Society of Otolaryngology - Head and Neck Surgery (PSO-HNS); Operation Smile Philippines Foundation Inc. (OSPF); and the Philippine Band of Mercy (PBM) established the Philippine Oral Cleft Study Group (POCSG) to implement a registry program for patients with oral clefts (cleft lip and/or palate) in the Philippines. Specifically, the POCSG aims to determine the incidence of oral clefts, the different types of oral clefts and identify possible risk factors for oral clefts in the country. The registry also collects data on maternal history and demographic profile to better understand oral cleft occurrences. The POCSG aims to cover all identified cases of oral clefts in the country.

From May 2003- December 2006, The Philippine Oral Cleft Registry has been able to register 2,324 cases all over the country.

Schizophrenia
The Philippine Schizophrenia Study Group

Schizophrenia is a serious condition affecting the brain. It affects 1% of the world’s population, mostly individuals 15 to 35 years old. Patients afflicted with this condition experience worsening personality changes that could greatly affect the relationship of the individual with the world, including his/her family. Although there is no cure, several treatment options are currently available for the control of the symptoms caused by the illness. This condition is also believed to be passed from one generation to another, hence the several studies that connect it to genetic origins.

The Philippine Schizophrenia Study Group, composed of psychiatrists and geneticists, views schizophrenia as a neurodevelopmental disorder that progresses in distinct phases. It is aims to better understand the genes involved in the symptoms of schizophrenia and eventually hopes to shed light on neurobiological abnormalities that cause schizophrenia or promote its progression.

SSPE
Subacute sclerosing panencephalitis (SSPE) is a rare but serious progressive inflammatory disease of children and young adults characterized by the persistent infection of the brain by the measles virus. It usually develops 6 and 12 years after a natural measles infection and in some cases following with measles vaccine. The incidence is about 1 per million with males more commonly affected. Mortality is very high and those who survive do so with considerable intellectual and physical impairment. Despite much research into SSPE, its pathology remains obscure. The Philippine SSPE Study Group has as its members leading pediatric neurologists, neurosurgeons and geneticists. One of its research goals is to find a cure or effective treatment for SSPE. Candidate genes suggested to play a role in the establishment of persistent viral infection in the central nervous system are presently being studied in Filipino patients.

Thalassemia
Thalassemia is an autosomal recessive genetic disorder of the blood that is prevalent among Asians. In this condition, the hemoglobin, or the part of the blood that is responsible for carrying oxygen, is defective. Although some forms may cause stillbirth deliveries, children born with the less severe forms may be born normal but develop anemia as early as a year after. Patients may need regular blood transfusions, iron chelation, splenectomy (surgical removal of the spleen), and bone marrow transplantation.

The Philippine Thalassemia Research Study Group is composed of hematologists and geneticists. Its researches focus on the screening of individuals using laboratory equipments. The group also aims to determine the frequencies of the different thalassemia genes, their molecular genetic nature, disease burdens, clinical manifestation and management. It is committed to achieving health promotion and disease prevention.