We are who we are thanks to our genes and the environment we grew up in. While the environment undoubtedly plays a role in shaping the individual, it is the genome which determines many of our characteristics… the colour of our hair and eyes, our gender, and all other characteristics we can pass on to our offspring.

The genome is like a book, a very long book. Think of it as a 23-volume encyclopaedia; and we have two copies of it, one inherited from our mother and one from our father. And, except for identical twins, a person’s genome is unique. Until not so long ago we could read short snippets of this book: a page here and there.

The news in April 2003 that after decades of work and the investment of millions of dollars scientists had read the entire human genome made headlines worldwide. Fast forward a mere 10 years and we have a technology – High Throughput Sequencing – that can read the entire human genome in under a week for around €1,000.

In the medical research setting this is extremely important as knowing the cause of disease is essential for prescribing treatment. Up to a decade ago identifying the cause of a hereditary disease was a laborious, lengthy procedure which nonetheless gave results for many of the more common, simple conditions.

It is the very rare diseases which proved much more difficult to crack. Locally, stellar work has been carried out in identifying the genetic causes of a number of diseases relatively common in our population. Now, with the advent of High Throughput Sequencing we can investigate the rarer, more elusive disorders.

One of the local research endeavours doing this is the NGS Project funded by the MCST’s National R&I Programme (2012). As part of this project, genome sequences from individuals with rare or common but complex diseases are being generated. The next challenge is finding quick and efficient ways to pull out only the relevant word out of the entire encyclopaedia of data. This word can then be studied more carefully and the mistake at the root of the disease identified. Bioinformatics, the science of using computer tools to handle vast amounts of biological data, is key to carrying out this next challenge effectively. Bioinformatics training is being provided by TrainMALTA, a Horizon2020 EU-funded project focusing on the skill sets necessary to filter through the gigabytes of data being generated.

With a candidate gene in hand, the equivalent of a misspelled word in the entire encyclopaedia, doctors can tailor a treatment that will be most effective.

And, where no treatment is available, the knowledge can serve as a springboard for generating novel therapeutic drugs.

Did you know…

• There are more lifeforms living on your skin than there are people on the planet.

• The Mimic Octopus can not only change colours, but will mimic the shapes of other animals, like the flounder, lionfish, and sea snakes.

• There are over 200 corpses on Mount Everest and some of them are used as way points for climbers.

• The fingerprints of koala bears are virtually indistinguishable from those of humans.

• A can of regular Coke sinks in water, whereas a can of diet Coke does not.

For more trivia see: www.um.edu.mt/think

Sound bites

• Trials of a prototype robot for sports therapy have just begun in Singapore, to create a high quality and repeatable treatment routine to improve sports recovery, reducing reliance on trained therapists. The robot named Emma, short for Expert Manipulative Massage Automation, has already treated 50 patients in trials including professional athletes for conditions ranging from tennis elbows, stiff neck and shoulders, to lower back pain.

http://www.sciencedaily.com/releases/2016/07/160718104326.htm

• Kids who sucked their thumbs or chewed their nails had lower rates of allergic reactions in lab tests, a new study finds. An idea called the hygiene hypothesis holds that exposure to germs early in life can train the immune system to behave itself, preventing overreactions that may lead to allergies and asthma.

http://www.sciencenews.org/blog/growth-curve/nail-biting-and-thumb-sucking-may-not-be-all-bad