Month: June 2015
Since 1989, every child born in Malta has been tested for hereditary haemoglobin disorders in a project conducted jointly by the University of Malta and the Malta Health Department. Over time, and with the support of the Research Ethics Committee of the University, these samples gave rise to the Malta Biobank, a unique repository of samples and data. These are essential to understanding the genetics of the population of Malta and the causes of rare hereditary disease. Here, Joanna Vella, a Biobank Assistant, gives us a tour of the why and the how of this unique research facility.
Deep beneath the Biomedical Sciences Building on the campus of the University of Malta are two rooms guarded with alarms and locks. They are climate-controlled, and every measure – from extinguishers in case of a fire to intruder alarms – has been taken to ensure their security and safekeeping.
Together, these two rooms form Malta’s Biobank: a living catalogue of many samples of blood and DNA of people afflicted with various illnesses and conditions, including (type 2) Diabetes, Parkinson’s disease and Thalassaemia.
“The bank is made up of two arms,” explains Joanna Vella, who works alongside Professor Alex Felice, the founder and director of the Biobank.
“One part of it is the Population Biobank, which holds 30,000 samples of DNA from children born in Malta over the past 26 years; while the other, the Clinical Biobank, holds various collections of blood and DNA (totalling to 11,000 samples) of people who were diagnosed with particular illnesses.”
On the one hand, the Population Biobank is an exercise in collecting Maltese and Gozitan DNA, which can then be used by researchers in Malta and abroad to help them with any medical investigations they may embark on; “subject, of course, to informed consent,” she adds. They are also exploring the possibility of a ‘research co-operative’ of subjects who are willing to share samples and data in support of health research. This would help both Malta’s researchers and foreign ones; after all, there are important leads on the genetics of diabetes right here in Malta.
“As part of the National Thalassaemia Programme, when a child is born a cord blood sample is kept and tested for herditary haemoglobin diseases,” explains Joanna. “If anything is found, then the parents are notified and medical action is taken as necessary. If nothing is found, then that child’s blood becomes anonymised and is placed in the Biobank to create a catalogue of the Maltese population’s DNA.”
This process is one that has helped many families determine chronic or underlying diseases early on. In fact, the PhD research of Dr Joseph Borg, which led him to discover the KLF1 gene has its roots in the National Thalassaemia Programme.
This project, in fact, began when a family with persistent foetal haemoglobin was met in the Thalassaemia Clinic and followed up by Professor Felice’s research group, which Dr Borg had just joined as a graduate student and research assistant.
“The Clinical Bank, on the other hand, is a collection of blood gathered through particular research, and the samples Dr Borg collected are now stored here too, for example,” says Joanna.
In order to have a detailed account of the various samples of DNA available at the Clinical Bank, Joanna, along with the Director Professor Felice and other helpers, spent six months sorting it out.
“Each researcher had his own collection and, unless we knew what they had been researching, we had to figure out what the DNA had been used for,” explains Joanna. “Now we have a lab that is both diagnostic- and research-oriented, and have samples of people who suffer from coeliac disease and retinoblastoma, among others. This allows us and other researchers to determine causes, patterns and even cures for these diseases.”
Malta’s Biobank does not stand alone in its work, however, and it is now a partner in various international biobank networks.
“We have been part of the EuroBioBank since 2002. In fact, Malta was one of the founding members and partners of particular research that is taking place on rare diseases known as RD-Connect, an FP7 project that is now in its third year and delivers essential IT tools with standards of quality practice in biobanking.
“We are also partners in BBMRI-ERIC, which stands for Biobanking and Biomolecular Resources Research Infrastructure – the European Research Infrastructure Consortium,” she adds. “This is of particular importance to us as it is the biggest research infrastructure in the European Union and focuses on more common diseases, like cancer and diabetes.
“What this means is that we’re automatically involved in many projects and our work and our researchers’ work is visible. More than that, however, it means that our researchers have the possibility to use samples of DNA from other countries to help them in their research. Ultimately, that benefits everyone involved, including current and future generations of Maltese people,” Joanna concludes.
You can be a part of this fascinating world of research by helping many other researchers achieve their breakthroughs in all faculties at the University of Malta, including medicine, archaeology and technology. We also urge you to become an active participant in health research when asked. Please click here for more information on how to donate to research of this kind through the Research Trust (RIDT).
How can differentiating cancerous cells help researchers come up with a better cure for certain cancers? To find out, we spoke to Dr Pierre Schembri-Wismayer, a man who has dedicated many years of his life to researching a revolutionary kind of cancer therapy.
According to Dr Pierre Schembri Wismayer, there are two types of cancer in the world: the ones that are instigated from repeated exposure to toxins (‘Outside’ cancer), and the ones that develop randomly in both children and adults (‘Inside’ cancer), which include brain, blood and bone cancer.
As a senior lecturer at the University of Malta’s Department of Anatomy, Faculty of Medicine and Surgery, Dr Pierre Schembri-Wismayer has spent years working on a cure for the latter; a cure that can differentiate immortal cancer stem cells from mortal cells.
“Although different cancers require different treatments, all the cures we have so far can be destructive as well as beneficial,” explains Dr Schembri Wismayer. “Excluding surgery, which is still invasive, chemotherapy and radiotherapy can be quite harmful to the body… In fact, people undergoing these therapies tend to lose their hair, feel sick, and contract more infections.
“Moreover, normal cells grow old and die naturally while most cancer cells are constantly in their adolescent phase, meaning that, as a person grows weaker from the disease, the cancer cells inside their body grow relatively stronger.”
Then, 20 years ago, research revealed that this process could be reversed in certain cancers that afflict both adults and children. It was a groundbreaking theory, and one that has since been proven to be a valid candidate for cancer therapy.
“Differentiation Therapy is something I began researching when I was doing my PhD, and I’m still very involved in this. In fact, I’m currently on a two-year sabbatical so as to focus more on its workings,” Dr Schembri Wismayer tells us. “One of the ideas I’ve had with regards to this was to look at some of the world’s natural differentiating systems to see how cell behaviour there could help us differentiate cancer.”
“The signals that these stem cells received were clearly instructing them to become adult and fully differentiated tissues when needed – these animals don’t grow a spare leg all the time, just when they need to. And since cancer cells are like stem cells, in that they can do or be various things, then instructing them to grow old and die using these same signals didn’t seem so far fetched!”
The best part about Differentiation Therapy, however, isn’t the fact that it can cure cancers more easily than other treatments, but that it can do so without harming the healthy cells.
“For the first time, instead of injecting chemicals into a patient’s body and hoping that they will kill more cancer cells than healthy ones, we can now be sure that the cure will only kill cancer cells by forcing them to grow old, and die naturally,” he adds.
Although this cure is not available yet for most cancers, it has come a long way in the past 20 years and it will, hopefully, offer patients of all ages – including children – a chance for survival against various kinds of ‘Inside’ cancer, including bone and brain cancer in the not too distant future.
“‘Outside’ cancers are cancers that develop over time from repeated DNA damage from toxins and are therefore almost never seen in children. These include skin, lung and colon cancers, and require a completely different treatment to the Differentiation Therapy,” explains Dr Schembri Wismayer. “In fact, here we focus our research on immunotherapy.”
The difference between those that can be treated using Differentiation Therapy and those that cannot, is that of one single random driving mutation being largely responsible for the cancer. In fact, it is this random gene defect that allows the research team to target cancer in children. Even so, medicine and research are advancing at an unprecedented rate. Acute promyelocytic leukemia (APL), which was 100 per cent incurable 20 years ago, is now 90 per cent curable! So there is a lot of hope in this sphere.
Unsurprisingly, this research has gained a lot of interest from the public and NGOs, including the Alive Charity Foundation, who has specifically chosen research in Differentiation Therapy as one of the beneficiaries of this year’s cycle challenge.
“Alive’s donation will help us fund a PhD student to focus on childhood cancers of the brain, blood and bone, and to provide a new pair of able hands to the team,” says Dr Pierre.
“He or she will also be able to go on a short-term scientific mission through the European Consortium, StemChem, and gain invaluable knowledge and techniques that will be able to help us further our research in Differentiation Therapy, especially in brain tumour research, which is a relative new area for us,” Dr Pierre concludes.
You can be part of this fascinating world of research by helping many other researchers achieve their breakthroughs in all the faculties of the University of Malta, including medicine, archaeology and technology. Please click here for more information on how to donate to research of this kind through the Research Trust (RIDT).