It’s all in the family

AlexandraFiott

Whatever you inherit comes from your biological family. Unfortunately, this includes disease. Talking about inherited conditions can make people anxious, making them unwilling to discuss the issue with their relatives. After speaking to a number of people my impression is that it seems taboo to discuss these things. People seem to feel that they will be stigmatised or treated differently because of a genetic condition.

A fear of social stigma hinders beneficial research. Research needs the collaboration of patients, since by investigating their condition researchers can in the long run develop a treatment or therapy. Not only that, but avoiding certain discussions means that relatives who might be at risk of developing the same problem would not be aware of it. If a condition is detected too late there might be very little that can be done.

It is very useful to discuss these matters with your family and speak to your doctor together. By building a medical family tree you can easily see who might inherit what. This way, your relatives will learn more about their health and then seek treatment. For example, a cousin might learn that she has an increased risk of breast cancer and would therefore attend screening sessions to catch the cancer before it spreads. Not knowing that something is there does not make it go away but discussing medical matters with your family could save a relative’s life.

“It is very useful to discuss these matters with your family and speak to your doctor together”

Scientific studies need family medical information. Scientific studies using family trees have already shown how useful this information is in identifying families with a high risk for inheritable cancers, like colon and breast cancer. Other research showed that families can benefit from preventative treatments against cardiovascular diseases like diabetes.

Local research has recently used this technique to find new genes, knowledge that can be developed for new treatments. The researchers were studying the genetic background of the protein which carries oxygen in our blood, haemoglobin. This protein switches from foetal haemoglobin to adult haemoglobin 3–6 months after birth. People with thalassemia have a problem with the adult version. Therefore, by studying local families that naturally cope well with the disease, they discovered the KLF1 gene that compensates for the malfunctioning adult protein by raising foetal haemoglobin levels. This was only possible with the help of family trees.

Speaking to a doctor to prepare a medical family tree (pictured) is done in the strictest confidentiality. You may also create your family medical history on https://familyhistory.hhs.gov/fhh-web/home.action to discuss with your family and doctor. I believe that it is in our best interest, apart from being potentially beneficial to the rest of humankind, to help in the creation of our own family medical trees.

If you have any queries when your physician or consultant asks you to prepare a family tree feel free to discuss them rather than avoiding family trees.

Diabetes: from genes to blood

Alexandra Fiott
Alexandra Fiott

Type 2 diabetes mellitus is a disease that affects over 250 million people worldwide. Many in Malta suffer from the disease because of our high carbohydrate diet and lack of physical activity. Type 2 diabetes arises when levels of the sugar glucose remain very high in the blood. Testing normally involves frequent finger pricks to determine blood sugar levels, or otherwise a patient can take a sugary drink followed by regular urine/blood testing over 2 or more hours.

Alexandra Fiott (supervised by Prof. A. Felice) studied whether the absolute HbA1c levels (the haemoglobin fraction with sugar attached multiplied by the haemoglobin concentration) would provide a better method to describe the link between one’s genetics and diabetic condition. She attempted to reduce the frequency of the testing needed while using a relatively non-invasive test — the withdrawing of one tube of blood, while investigating the genetics of diabetes.

Haemoglobin (Hb) transports oxygen throughout the blood through red blood cells. The HbA1c forms when glucose binds to haemoglobin. This can be used as an indirect measure of average blood sugar concentrations. Measuring HbA1c levels is rapid, but unfortunately the results are influenced by factors that affect red blood cells. With around 5% of Maltese having red blood cell disorders, an alternative measurement would help reduce inaccurate results and unnecessary worry for patients. The absolute HbA1c was used for this study.

The genetics and blood profile of five different patient groups were determined using genetic and biochemical methods: adults with a normal blood profile, anaemics, beta-thalassaemics, pregnant women, and type 2 diabetics (on limited treatment). Statistical analysis did not reveal an improved link, but the absolute HbA1c did help distinguish between the different patient groups.

To improve the reliability of these results, a separate set of experiments was carried out to see whether a known Maltese variation in haemoglobin, with a prevalence of around 1.8% in the Maltese population, has an effect on the amount of sugar that binds to the haemoglobin. This variant was found not to influence the blood glucose levels and therefore the HbA1c.

Taken together these results showed that the absolute HbA1c does not improve the link between the genetics and blood profile of the patients. However, it could distinguish between different groups of patients.

 

This research was performed as part of an M.Sc. (Melit.) in Biomedical Sciences at the Faculty of Medicine and Surgery at the University of Malta.

Deep Sea Malta

Kimberly Terribile
Kimberly Terribile

The deep sea covers 70% of the Mediterranean seabed, with Malta on the boundary of the Sea’s two main biogeographical sectors. Despite its importance in detecting changes in biodiversity, research on what lives in this habitat lags behind. Kimberly Terribile (supervised by Prof. Patrick J. Schembri) characterised the marine life on the seabed in deeper waters around Malta as a first step to find out what lives far beneath our waves.

Terribile studied species by-catch samples that were caught from depths of 72 to 201m during deep sea trawls from 2009–2011. These were part of the Mediterranean International Trawl Surveys (MEDITS), which is meant to assess the state of fish stocks around the Mediterranean. Over 100 samples were analysed, which showed that light and the grain size of the sea bottom greatly influence the species that can live there. The type and number of species found were different from distributions seen in the western Mediterranean. She also mapped which species groups were found where.

Taken together, these results show that the assemblages of species in the western Mediterranean are different from those in the central and eastern areas. The knowledge of these ecosystems is essential to properly manage these areas to maintain the health of fish stocks and for the management of the marine environment around Malta.

Mapping the deep sea holds strong commercial importance. By knowing where important feeding, spawning, and nursery areas may occur, fish stocks and other commercially important species can be properly managed to maximise the catch from the Mediterranean without causing the populations to collapse.

The study attempted to start understanding the deeper seas around Malta. Fish do not exist individually, they need to breed, shelter and feed on other organisms. To maintain commercial fish you need to understand how all species affect each other. The study is a first step in maintaining our seas for tomorrow.

 

This research was performed as part of an M.Sc. (Melit.) in Biology at the Faculty of Science. This project forms part of a collaboration between the Department of Biology and the Maltese Government’s
Department of Fisheries and Aquaculture.

The Universe is Strange and Beautiful

Super dense stars shooting jets of radiation, black holes swallowing up stars, supernovae, and unexplained bursts of gamma rays. These are all examples of a ‘transient event’, an incident that lasts at most a few days. They are amongst the most powerful and mysterious phenomena in the universe, but from Earth they appear as ‘blips’ on our telescopes, making them very difficult to study.

Byron Magri (from the Astronomy, Astrophysics and Cosmology Research Programme (AACRP) and supervised by Dr Kris Zarb Adami) is shedding light on how to detect these fleeting wonders. His work is focused on fast transients that only last a few seconds.

Earth-based radio telescopes (aka antennae) are as big as they can get. The problem is that astronomers need bigger telescopes to produce higher resolution images to reveal finer details about these objects and find new discoveries. The solution is to use arrays of smaller radio antennae that are linked together. Interferometry is used to combine the data.

The technique uses enormous computing power to measure the radio waves phase delays being gathered by the individual antennae. Interferometry then overlaps and superimposes them to produce a stronger signal and an image with a much higher resolution.

For this technique to work, it must carry out all the calculations as the event is happening. The computer algorithm interpreting the data must also filter out all the noise due to the Earth’s atmosphere. To top it all off, the transient events need to be singled out.

To meet these challenges Magri used GPUs (Graphic Processing Units), which are usually used by hardcore gamers to power the most advanced graphics. The design of GPUs lends itself well to heavy numerical processing. Magri wrote an algorithm that acts as an inferometer on a GPU and he is testing it on data from the BEST-2 radio telescope array in Medicina, Italy.

Developing these algorithms is important to make future arrays larger. The next generation interferometer, the Square Kilometer Array, will have hundreds of antennae, meaning that information extraction will need to be extremely efficient and rapid. These algorithms are a keystone to maximise the potential of a €1.5 billion telescope to find more amazing phenomena in our universe.

 

This research was performed as part of an M.Phil. (Melit.) in Physics at the Faculty of Science. For more about Malta’s role in the Square Kilometre Array see pg. 14, Issue 02 of  Think magazine (http://bit.ly/SKATHINK).

Does Alcohol kill brain cells?

This myth is HUGE! Urban legend says that drinking kills cells, some even say: ‘three beers kill 10,000 brain cells.’ Thankfully, they are wrong.

In microbiology labs, a 70% alcohol 30% water mix is used to clean surfaces pretty efficiently. It seems our neurons are made of sturdier stuff.

Alcohol does affect brain cells. Everyone knows that and it isn’t pretty. Alcohol can damage dendrites, which are delicate neural extensions that usually convey signals to other neurons. Damaging them prevents information travelling from one neuron to another — a problem. Luckily, the damage isn’t permanent.