Several projects in biomedical sciences are carried out requiring either human or animal experimentation. These include studies on cancer, pregnancy and fetal growth, endometrial function, pregnancy induced hypertension and human DNA variation etc.

Cancer Genetics
Mutation Analysis of DNA from clinically confirmed Breast Cancer Patients

Most cancers are now known to have a genetic predisposition. Two candidate genes, BRCA1 and BRCA2 are now implicated in the development of familial type of breast cancer. The prevalence of all forms of cancer and breast cancer in particular appear to show a global upward trend. Although cancer was regarded as a disease of the affluent society, this is now changing and according to experts at the Cancer Hospital at Maharagama, the trend in Sri Lanka is also on the increase.

Although mutation analysis per se is neither a cure nor a prevention, the collection of such data for the Sri Lankan population is extremely important, as mutations are known to vary among populations. In addition, it may also help the person carrying such a mutation to resort to regular screening such as mammography.

One PhD student who worked on analysis of BRCA-1 gene mutations satisfactorily completed her examination. Another MPhil/PhD student is currently studying BRCA-2 mutations. This study is a collaborative study with the National Cancer Institute, Maharagama and Faculty of Medicine, University of Colombo.

Human DNA Variation

Although all humans are 99.9% identical, the differences among them provide tools for genetic identification of individuals.

Some of the methods used are not suitable when the material available is very limited or degraded and in such instances analysis of mitochondrial DNA has proved to be useful. In order to establish a data base of mitochondrial D loop.

Reproductive & Developmental Biology
A Genomic and a Proteomic Study of Low Birth Weight

In view of the importance of placental function in fetal growth and paucity of data on placental gene expression, a study is being conducted to investigate placental gene expression in relation to fetal growth. This is a collaborative study with Castle Street Hospital for Women. Role of insulin like growth factor system in relation to birth weight is also being investigated and is described below. One MPhil student worked on placental gene expression.

Role of Leptin in Endometrial Function

In view of the effects of leptin on reproductive function and the presence of leptin receptors in the human endometrium a study had been in progress to investigate the effect of leptin on rodent endometrial function.

Previous studies examined the effect of leptin on endometrial IGF I, prolactin and IGFBP-1 synthesis, three proteins implicated in molecular events of implantation using a primary endometrial cell line from virgin rats. Pattern of leptin and leptin receptor expression in the uterus and in the oviduct in relation to the estrus cycle was also investigated. In order to examine gene expression in response to leptin stimulation selected genes were studied. These studies support an MPhil project.

Leptin System and other Proteomic Markers for early detection of pregnancy induced hypertension/ Pre-Eclamptic Toxaemia

Pregnancy induced hypertension (PIH)/pre-eclamptic toxaemia (PE) are pregnancy complications with serious consequences for the baby and the mother. To date there are no biochemical or genetic markers that can identify women predisposed to PIH/PE.

A collaborative study with the Castle Street Hospital for women, Colombo continued to evaluate the feasibility of using biochemical and genetic markers related to the leptin system for early detection of PIH/PE before clinical manifestation. Results todate have shown that maternal leptin levels, free leptin index and the leptin genotype are likely to identify those predisposed to developing PE/PIH.

This programme funded by SAREC and NRC supported one PhD student and two MSc students.

Insulin-like growth factor system in Pregnancy and Fetal Growth

A PhD project which commenced in 2006 to study IGF genotype in relation to fetal growth was continued in 2009. Blood samples were collected from mothers, fathers and newborns