In May 2013, famous US actress Angelina Jolie announced she had inherited a mutated BRCA1 gene (family history of breast cancer).

She decided to have a preventative double mastectomy.

In the months following Jolie’s announcement, referrals to 21 cancer clinics and genetic testing facilities in the UK increased 2.5-fold.

In Australia, referrals tripled and remained high for 6 months.

Therefore, high profile celebrities can have a global and long-lasting effect on health care.

A similar effect was observed in Australia in 2005 after Kylie Minogue revealed she had breast cancer, with screening increasing by 40%.

Do you want more information?

Background

Women have a 1 in 8 chance of developing breast cancer in their lives.

Their risk greatly increases if they inherit a mutated BRCA1 or 2 gene.

Early detection is important, because breast tumours are most effectively treated at early stages using drugs (e.g. tamoxifen), or by surgery before the cancer spreads to other parts of the body (metastasis).

Women with a family history of breast cancer can have genetic tests to see if they inherited mutated BRCA1/2 genes.

If so, they may choose to undergo risk-reducing mastectomy (RRM, remove their breasts).

In May 2013, famous US actress Angelina Jolie announced she had inherited a mutated BRCA1 gene (family history of breast cancer).

She decided to have a preventative double mastectomy.

What effect did her decision have on other women around the world?

Materials and Methods

This study collated referral data from 21 cancer clinics and genetic testing facilities in the UK in the months following Jolie’s announcement.

Results

In the months following Jolie’s announcement, referrals to 21 cancer clinics and genetic testing facilities in the UK increased 2.5-fold.

Referrals remained high (2-fold) 5 months later, indicating a long-lasting effect.

In Australia, referrals tripled and remained high for 6 months.

During this period, there was no change in referrals for colorectal cancer (control).

There is no evidence of an increase in inappropriate referrals (i.e. they were genuine).

Discussion

High profile celebrities can have a global and long-lasting effect on health care.

A similar effect was observed in Australia in 2005 after Kylie Minogue revealed she had breast cancer, with screening increasing by 40%.

Article

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

Evans et al., 2014 Breast Cancer Research 16:442

Keywords

Cancer, carcinogenesis, tumour, breast, genetic, testing, screening, gene, mutant, mutation, BRCA1, BRCA2, BRCA, mastectomy, Jolie, Minogue

Subject

Science, Biology, SC4-15LW, ACSHE119, ACSHE134, SC5-15LW, ACSSU185

Did you know the anatomy of the brain is different between altruists and psychopaths?

Altruists improve the welfare of others at the expense of their own.

Are they weirdos or superheros? What makes them do good deeds for other people they have never met?

This study measured the activity and size of different brain regions of altruistic kidney donors using magnetic resonance imaging (MRI).

They found their amygdalas are ~8% larger than normal people. This region is important for memory, decision-making and emotional reactions.

Also, altruists were better at recognising fear in others.

This is opposite to psychopaths, who have smaller amydalas and are less able to recognise or respond to fear in others.

Altruism may seem counterintuitive to evolution, since it benefits the success of others. However, it may simply be the extreme end of our innate tendency to care for our offspring, which does fit with evolution.

Do you want more information?

Background

Altruists are people that improve the welfare of others at the expense of their own.

An extreme form of altruistic behaviour is donating a kidney to an unknown recipient.

Little is known about the genetic or neural basis for altruistic behaviour.

Materials and Methods

19 altruists and 20 controls were subjected to fMRI (functional magnetic resonance imaging – measures activity of different brain regions), as well as anatomical MRI to measure size. While in the machine, they were shown pictures of people with facial expressions of fear, anger, neutral and other emotions.

NOTE: Altruistic kidney donors are very rare, so finding 19 that are willing to participate in a MRI study is a good achievement.

Results

Altruists displayed increased activity of a brain region called the amygdala when viewing fearful faces, compared to controls.

In fact, their amygdalas are ~8% larger than in normal people.

Altruists were better than controls at recognising fear, possibly due to larger and/or better functioning amygdalas.

This was specific for fear, since they were no different to controls for other emotions.

Discussion

The amygdala is located near the middle of the brain and is important for memory, decision-making and emotional reactions.

This study shows it is larger and has better function in altruists.

This is opposite to psychopaths, who have smaller amydalas and are less able to recognise or respond to fear in others.

This suggests there is a continuum of amygdala size and function, with altruists and psychopaths at opposite ends.

Altruists that can easily recognise distress in others may be highly motivated to help them.

Fear is a particularly intense/urgent emotion (can involve life or death situations) and induces infantile appearances (wide eyes and high brows) that elicit caring responses.

Altruism may seem counterintuitive to evolution/natural selection, since it benefits the success/survival of others at the expense of one’s self. However, altruism may simply be the extreme end of our innate tendency to care for our own offspring, which does fit with evolution/natural selection.

Future Directions

Could it one day be possible to develop treatments that increase the size of the amygdala (e.g. cognitive therapy, stem cells) to increase altruistic behaviour in people? Perhaps even in psychopaths? Perhaps as an adjunct or alternative approach to traditional prison or death sentences?

Article

Neural and cognitive characteristics of extraordinary altruists

Marsh et al., 2013 Proc. Natl. Acad. Sci. USA 110:6925-30

Keywords

Altruism, altruistic, psychopath, brain, neuron, neural, amygdala, MRI, fMRI, imaging, emotion, survival, fear, behaviour, evolution, natural, selection

Subject

Science, Neuroscience, Psychology, SC4-14LW, ACSSU150, SC5-15LW, ACSSU185

Did you know that most ‘fad/celebrity’ diets work, as long as you stick to them?

Diets and weight loss are a multi-billion dollar industry.

Aggressive marketing campaigns claim that each of them is the best.

So which one is the best?

This study compared 11 different branded diets and showed that all of them successfully reduced weight.

Most importantly, there was very little difference between the diets.

Basically, people should choose the most convenient diet for their lifestyle and stick to it!

Do you want more information?

Background

There are many diets available to aid weight loss and improve health.

Diets and weight loss are a multi-billion dollar industry.

Aggressive marketing by many companies claim they are the best.

So which one is the best? Which one should people choose?

Materials and Methods

This study analysed data from 48 randomised clinical trials comparing 11 different diet brands (meta-analysis). This involved 7,286 people with an average age of 46, weight of 94kg and BMI of 33.7 (body mass index; weight ÷ height; obese >25). The diet lasted for 6 months and their weight was measured 6 and 12 months later.

Results

All diets successfully reduced weight compared to no diet (control).

All diets lost around 8-9kg at 6 months.

Slightly regressed at 12 months, adding 1-2kg of weight back on.

The most effective was the Atkins diet; ~10kg lost at 6 months.

Behavioural support and exercise helped weight loss, contributing ~3.67kg and ~1.15kg, respectively.

Most importantly, differences between diets were very small, therefore essentially equal.

Discussion

People who want to lose weight should choose the easiest or convenient diet with the least amount of challenges and stick to it.

They should also supplement the diet with behavioural support and exercise to maximise weight loss.

Future Directions

Since weight loss regressed from 6 to 12 months (added 1-2kg back on), future studies should include even longer time points to address long term weight management.

Article

Comparison of weight loss among named diet programs in overweight and obese adults

Johnston et al., 2014 Journal American Medical Association 312:923-33.

Keywords

Diet, calories, food, weight, body, BMI, exercise, obesity, diabetes, fat, meta-analysis, Atkins

Subject

Science, biology, ST1-10LW, ACSSU030, ST2-11LW, ACSSU073, ST3-11LW, ACSSU094, SC4-14LW, ACSSU150, SC5-14LW, ACSSU175

Did you know that daylight savings might be good for our health?

A study from the UK showed that children in Europe and Australia are more active when they have an extra hour of daylight due to daylight savings (clocks put forward 1 hour).

Increased activity was most evident in late afternoon/early evening, corresponding to the extra hour of daylight.

It was not dependent on weather or the type of child (weight, age, etc).

The effect is small, however it could have significant health benefits to an entire population, especially if combined with other health initiatives.

British Parliament discussed the possible introduction of daylight savings all year round to improve population health in 2010-12. Perhaps this isn’t such barmy idea after all.

Do you want more information?

Background

First world countries like Australia and the UK are facing an obesity and diabetes epidemic.

Largely due to over-eating high energy foods and lack of exercise.

One suggested strategy is to increase the amount of daylight hours (essentially daylight savings all year round). This increases the opportunity to perform physical exercise, reducing obesity/diabetes.

This was discussed in British Parliament in 2010-12.

However, there was no evidence at the time that increasing daylight hours increases physical activity and reduces the incidence of obesity/diabetes.

Materials and Methods

This study measured the amount of physical exercise on 23,188 children aged 5-16 across 9 countries. Physical activity/movement was measured using electronic accelerometers that were strapped around the children’s waists. The amount of activity was matched to time of day, weather and other parameters. In addition, the activity of 439 children was monitored immediately before and after changing clocks to daylight saving hours.

Results

Children in Europe and Australia are more active when they have an extra hour of daylight due to daylight savings.

Increased activity was most evident in late afternoon/early evening, corresponding to the extra hour of daylight.

There was clear evidence of increased activity (late afternoon/early evening) for 439 children that were monitored immediately before and after changing clocks to daylight saving hours.

It was not dependent on weather or the type of child (weight, age, etc).

Discussion

The amount of increased activity was relatively small, but if introduced nationally, it could have significant health benefits to an entire population. Especially if combined with other health initiatives.

Perhaps British Parliament discussing introduction of daylight savings all year round to improve population health isn’t so barmy after all.

Article

Daylight saving time as a potential public health intervention: an observational study of evening daylight and objectively-measured physical activity among 23,000 children from 9 countries

Goodman et al., 2014 Int. J. Behav. Nutrition. Phys. Activity 11:84

Keywords

Physical, activity, movement, accelerometer, obesity, diabetes, body, weight, population, children, exercise, fat, daylight, saving

Subject

Science, biology, ST1-10LW, ACSSU030, ST2-9ES, ACSSU048, ST2-11LW, ACSSU073, ST3-11LW, ACSSU094, SC4-12ES, ACSSU115, SC4-13ES, ACSSU116, SC5-13ES, ACSSU189, SC5-14LW, ACSSU175

Did you know that many mums underestimate the height of their youngest child?

When mums were asked to guess the height of their children, they were usually accurate with their eldest, but underestimated the height of their youngest children.

This may be because they perceive their youngest child as requiring the most care and protection.

Do you want more information?

Background

When a second child is born, most mothers think that their eldest child suddenly appears much bigger. This was confirmed using an online questionnaire in this study (70% of mums).

One explanation is the size difference between the two children (i.e. new child is small, making the elder child appear bigger).

Another explanation is mums think their younger child is smaller than he/she actually is (i.e. underestimate). This was investigated further.

Materials and Methods

Mothers were asked to mark on a blank wall the height of their eldest and youngest children. This height was compared to the actual height of the children.

Results

Mums accurately guessed the height of their eldest children (average error 0.4 cm above actual height).

Mums underestimated the height of their youngest child (average error 7.5 cm below actual height).

Discussion

Mums typically underestimate the height of their youngest child, making their elder children look bigger. This is called the ‘baby illusion’.

The perception of their youngest child as being small, cute and vulnerable may promote mums to care and protect the most needful child.

Article

Parental misconception of youngest child size

Kaufman et al., 2013 Current Biology 23:R1085-6

Keywords

Psychology, parent, child, human, rearing, development, perception, height, nurture, baby, reproduction, behaviour

Subject

Science, biology, psychology, ST1-10LW, ACSSU030, ST2-10LW, ACSSU072, SC5-14LW, ACSSU175

Did you know that in 2012, the state medical examiner of Connecticut ordered that a mass murderers genome must be sequenced?

Adam Lanza killed 27 people and himself at Sandy Hook Elementary School in 2012 in the deadliest school shooting in US history.

It is generally agreed that a ‘mass murderer’ gene does not exist and analysing his genome by itself is almost useless, so what were they looking for?

The answer is that Adam’s genome was likely the first of many to be collected in the future. Only when the genomes of many mass murderers are available and compared to controls (non-mass murderers) will genetic ‘risk factors’ begin to emerge.

Each of these risk factors (base changes in the DNA) on their own are not causes. Rather, they slightly increase the likelihood of criminal behaviour.

When dozens or hundreds of these risk factors combine, the likelihood of criminal behaviour increases even further, possibly producing a mass murderer.

Do you want more information?

Background

When Peter Kurten (The Vampire of Dusseldorf) was executed in 1931 for killing up to 60 people, his brain was analysed for defects (now exhibited in Ripley’s Believe it or Not Museum, Wisconsin).

Similarly, John Wayne Gacy’s brain was examined after his execution in 1994 for killing 33 men and boys in Chicago.

These were desperate searches for explanations for what makes people commit horrible crimes.

More recently, the search has shifted to our genes.

Adam Lanza was 20 years old when he shot 20 children, 6 staff, his mother and himself at Sandy Hook Elementary School in Connecticut in 2012.

The state medical examiner requested that his genome is sequenced.

But why? It is generally accepted there is no such thing as a ‘mass murderer’ gene. So what were they looking for?

Materials and Methods

The first human genome took 10 years, 6 countries and over $3 billion to complete.

Sequencing a human genome can now be performed in many labs in a few days for ~$1,000 (as at March, 2015 – the price and time required is rapidly decreasing).

Massive efforts are being put into sequencing as many humans as possible, to discover gene variants/mutations causing diseases. That is, compare healthy versus diseased patients and identify differences in DNA sequences that occur more frequently in diseased patients.

An extension of this is to apply this technology to behavioural traits, such as criminals versus the general population to discover which genes predispose them to committing crimes.

Results

The answer is in numbers.

Comparing the genome of one person to another is virtually useless due to the large number of differences between any 2 individuals (around 10 million base differences). However, if many genomes are compared (thousands, millions), then patterns in the genome emerge.

Genomic analyses of large populations are now common for investigating human diseases, such as diabetes, cancer, schizophrenia, even height and other traits. These generally identify ‘risk factors’ – changes in DNA bases that slightly increase the chances of developing a condition. On their own, they are not sufficient to cause the condition. However, if a person has dozens of these risk factors, then their chances increase even further.

Of course, environment, upbringing, etc are also important contributors.

Discussion

While analysing Adam Lanza’s genome in isolation may be pointless, his may the first of many mass murderer genomes to be analysed that could one day be invaluable.

Courts accept family circumstances, adverse life experiences, mental illness, etc as mitigating factors in trials, so it seems reasonable that a genotype can also be a mitigating factor. However, a genetic predisposition does not compel a person to commit a crime or mean they are powerless to stop themselves. Instead, the genotype defence might be more appropriate for reducing sentences rather than denying guilt.

The genotype defence could also backfire – if the defendant’s genes makes them commit crimes, then it is safer to keep them locked up!

Future directions

This type of genomics will become more common and routine if everyone in the population has their genome sequenced and stored in large databanks. This is where the field and society is inevitably heading, and efforts have already begun (e.g. Wellcome Trust 1000 genomes project; BGI Million Human Genomes Project).

Article

The double helix takes the witness stand: Behavioural and neuropsychiatric genetics in court

Appelbaum, 2014 Neuron 82:946-9

Keywords

Gene, genetic, genome, genotype, phenotype, behaviour, mutation, variant, SNP, single nucleotide polymorphism, inherited, hereditary, law, court, criminal, murder

Subject

Science, Biology, ST2-10LW, ACSSU044, SC4-14LW, ACSSU111, SC4-15LW, ACSHE119, ACSHE134, SC5-15LW, ACSSU184