Research

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For the last eight years I've been very active in medical research initially working on a research project as part of my Bachelor's degree followed by my Ph.D. project. My main interest was in the genetics of osteoporosis, where I studied various polymorphisms in a number of genes that might increase the individual's susceptibility for disease. Using both linkage and association approaches a number of variants within genes at different chromosomal loci were identified and are being further studied. The research is being carried out at the DNA Laboratory, Medical School, G'Mangia, Malta, by a team of scientists under the supervision of Professor Angela Xuereb.

 

Also I was working on a similar study to identify genes that might be responsible for coeliac disease in the Maltese population. This study was funded by the Malta Council of Science and Technology as part of the Research and Development Programme 2004. This study is being done at the DNA Laboratory Medical School, in collaboration with other Departments at the University of Malta including the Laboratory of Molecular Genetics and the Department of Clinical Pharmacology and Therapeutics.

Currently I am studying the molecular mechanisms of differentiating mesenchymal stem cells into osteoblasts and adipocytes as part of the Ageing Bone Research Program at the University of Sydney, Australia.

 

My research interests include the genetics of complex traits mostly inflammatory diseases that come along with advancing age such as atherosclerosis, diabetes, osteoporosis, coeliac, Alzheimer's and Parkinson's disease. I am also interested in disorders such as obesity and the genetics of Down's syndrome. My interest in Down's is to understand the control of gene expression and how this can affect the severity of the phenotype between different individuals, knowing that in most cases Down's syndrome is caused by trisomy of chromosome 21. Genetic studies are useful to understand better the pathophysiology of disease where the identification of new genes leads to that of important metabolic pathways that might be involved. This will increase our knowledge of human physiology which is useful for disease prevention and for the development of novel and more effective treatments. Apart from this, I am also interested in the genetics of populations and its use to identify and trace the origins of populations.

 

Scientific research, whether it is medical or in any other discipline, is very important for the continuous progress of human race. Research helps us to understand the world around and eventually leads us to make innovative discoveries and further development. There are three basic questions that are asked by scientists all the time "What?", "How?", and "Why?" and usually when an answer is found to the first question a series of new questions arise. Today we understand better the world where we live, we understand natural phenomena such as earthquakes, volcanoes, the seasons and so much more...and all of this thanks to science. It is by means of this increase in knowledge that we have cars, aircraft, television, effective medicine and medical equipment, to name a few that first come to mind. During the last three decades, knowledge in genomics increased significantly, revolutionised by the completion of the human genome project together with the development of better and more efficient techniques for DNA sequencing, genome mapping and polymerase chain reaction. All of this was complemented by the development of various bioinformatics tools and rapid progress in computer technology. This molecular revolution was triggered by the discovery of the double helix more than fifty years ago by the 1962 Nobel Prize winners James Watson and Francis Crick.

 

As anything else in the world, scientific research also has its own pros and cons as it could be misused if it is in the hands of people with alternate intentions in mind. To try to reduce the possibility of this from happening it is very important that research is monitored by competent authorities and regulated appropriately, always keeping in mind and trying to reach a compromise between effective control and progress. In Malta, we talk a lot about the importance of disease prevention, quality in medical services and good quality of life but contrasting all this there is no or very little awareness about the importance of medical research. This is the same when it comes to fund raising, where numerous activities to raise money for a number of good causes are organised all year round, but nothing exists when it comes to scientific and especially medical research. When compared to other European countries and to the whole world, Malta is lagging far behind when it comes to research mostly due to the lack of funds. The initiative has to come from both state and the various organisations and associations that exist, which must first address this issue by increasing awareness among the general public about the importance of research for disease prevention, treatment and increased quality of life. Looking at all this from a wider perspective, medical research not only improves the quality of life of the patients and their families, but also it can positively affects the country's economy first of all by improving prevention and thus reducing the occurrence of these diseases that cost the health system millions of euros per year. Secondly innovative discoveries can be beneficial to the whole Maltese economy.

 

 

 

In this website I am going to give information about genetic studies, with emphasis on their importance and information about different approaches and techniques. Also I will present information about results obtained from studies carried out so far in the Maltese population and about various diseases.

Links below will be activated when relevant information is added.

 

Bone Physiology

Osteoporosis

Genetics

Genetic studies in the Maltese population

 
 
 
 
 

 

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"The important thing is not to stop questioning."

Albert Einstein (1879 - 1955)