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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.
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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. |
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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. |
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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. |
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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. |
