Category Archives: Neuroscience

The Pope and Huntington’s disease

FRANKLIN Soto will develop Huntington’s disease (HD), a lethal genetic disorder that causes progressive mental and physical deterioration and for which there is no cure. His two sisters already have it. His wife died of the disease last year, and his three-year-old daughter has a 75 per cent chance of developing it.

Franklin’s was among a number of South American families who travelled to Rome this week for an audience with the Pope. The Pontiff thus became the first head of state and major religious leader to mention HD, which is thought to affect nearly one million people worldwide. The actual prevalence of the disease is unknown, because families often hide it, and are forced to live in fear and isolation far from the treatment and support they need.

The irony is that it was families from Lake Maracaibo who contributed to the research that led to the identification of the gene responsible for HD in 1993. As a result of that breakthrough, a diagnostic test now exists that means that those at risk can determine whether or not they will develop HD. If they carry a mutation in the gene in question, they will certainly do so, but usually not until middle age. This allows them to make informed decisions with respect to parenthood, to gain access to specialist treatment, and to plan for the future – all options that were unavailable to Franklin.

Hence HDdennomore, as the initiative to bring the South American families to Rome was called. The brainchild of former war reporter and HD advocate Charles Sabine, organised by an international team of HD clinicians and scientists, and funded in part by drug company Teva – which is conducting research aimed at developing new HD therapies – its goal was to lift some of the stigma attached to the disease.

“We all very acutely feel the debt that is owed to those families in Maracaibo,” said Ed Wild, a neurologist and HD researcher at the National Hospital for Neurology and Neurosurgery in London.

“You are precious in God’s eyes, and you are precious to the Church,” Pope Francis told the families. The organisers hope that this message, uttered by the head of the world’s largest non-governmental healthcare provider, will mobilise efforts both within and beyond the Catholic community to provide better care for those affected, while giving patients and their relatives the courage to come forward and be counted – and to continue to take part in clinical research.

We all stand to benefit from their participation, since HD shares disease mechanisms with other, more common neurodegenerative diseases, such as Alzheimer’s and Parkinson’s. That research could therefore lead to drugs that will help the one in three of us who will likely develop dementia in our lifetimes.

This was not in the Pope’s speech, however. He merely called for more compassion towards those suffering from HD and from all rare, genetic diseases – words that have been a long time coming, but that needed to be said.

This article first appeared on the Catholic Herald website on 19 May 2017.

The shared past that wasn’t

STRANGE things have been happening in the news lately. Already this year, members of US President Donald Trump’s administration have alluded to a ‘Bowling Green massacre’ and terror attacks in Sweden and Atlanta, Georgia, that never happened…

By South Africa The Good News / www.sagoodnews.co.za

 

 

 

 

 

 

 

 

 

 

This article first appeared in Nature on 7 March 2017. To continue reading, click here.

How crowds affect your health

GLASTONBURY 1997, the 2002 Winter Olympics in Salt Lake City, the pilgrimage to Lourdes in 2008: what do they have in common? All three were the backdrop to outbreaks of communicable disease, and so of interest to doctors working in mass gathering medicine. The goal of this relatively young field is to address the specific health problems associated with mass events, but two British psychologists now claim that this can only be done effectively by understanding the psychological transformation that people undergo when they join a crowd…

This article first appeared in the BPS Research Digest on 4 January 2017. To continue reading, click here:

Joining a crowd transforms us psychologically, with serious health implications

Image: AlGraChe/Flickr

 

Mapping the uncanny valley

ns_logoON THE face of it, The Polar Express was a sure-fire winner: starring Tom Hanks, it told the charming story of a boy’s magical train journey to the North Pole. But when the movie came out in 2004, there was a problem: the ultra-realistic animation gave some viewers the creeps. Five years later, when James Cameron chose the same technology for Avatar, his graphics people reportedly thought the decision might bankrupt the production company. But Cameron’s blue humanoids went down a storm. For a while, Avatar was the highest-grossing film of all time…

This article first appeared in New Scientist on 29 October 2016. To continue reading, click here.

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On shared memories

WHAT were the greatest human catastrophes of the 20th century? When asked this question, most people answer the Second World War, followed by the First World War. The former killed around 50 million people, the latter 17 million. But there was another catastrophe that dwarfed both of these, that is rarely mentioned. The influenza pandemic of 1918-1920, better known as the Spanish flu, killed at least 50 million people worldwide, and perhaps as many as 100 million…

This article first appeared in the BPS Research Digest on 22 January 2016. To continue reading, click here.

The USS Arizona burning after the Japanese attack on Pearl Harbor, 1941. Image: Wikipedia
The USS Arizona burning after the Japanese attack on Pearl Harbor, 1941. Image: Wikipedia