The Health News – 13 April 2016

Overview:
• International team medical researchers are on the hunt for 13 lucky people who have what they have dubbed “superhero DNA,” studied the DNA of close to 600,000 people, zeroing in on individuals who carried damaging genetic mutations.

• A north Queensland research project will help improve the detection and management of high cholesterol disorders in younger patients says Clare Heal from James Cook University (JCU).

• Scientists from Imperial College London have for the first time scanned the brains of people using LSD and found the psychedelic drug frees the brain to become less compartmentalised and more like the mind of a baby.

News on Health Professional Radio. Today is the  13th of April 2016. Read by Rebecca Foster. Health News

http://www.abc.net.au/news/2016-04-12/quest-to-find-people-with-superhero-dna/7320208

Medical researchers are on the hunt for 13 lucky people who have what they have dubbed “superhero DNA”.

An international team of scientists studied the DNA of close to 600,000 people, zeroing in on individuals who carried damaging genetic mutations.

But rather than focussing on those who succumbed to illness, they looked at an even smaller sub-group who beat the odds and remained healthy.

These people were born with a genetic predisposition towards developing serious and debilitating conditions such as cystic fibrosis, but something in their genomes caused them to still be resistant to the illnesses.

The researchers found 13 individuals who they believed could hold the answer to beating a range of illnesses.

But they were not able to contact the unnamed people because of consent rules signed by the study participants.

Professor Stephen Friend from the Mount Sinai Hospital’s Icahn School of Medicine launched the project in 2014 with a global crowd-sourcing appeal for access to people’s DNA samples.

Ultimately the project was able to gain access to hundreds of thousands of DNA samples, provided voluntarily to testing laboratories by individuals from around the world who had agreed their samples could be used for research.

“Basically all we need is information, we need a swab of DNA and a willingness to say, ‘what’s inside me?'” Professor Friend said in a 2014 TED Talk.

“What we are asking and looking for is … a very few individuals who are actually walking around with the risk that normally would cause a disease, but something hidden in them is actually protective and keeping them from exhibiting those symptoms.”

The research is part of a pilot study for what’s been dubbed “The Resilience Project”.

Professor Friend and his team have now launched a follow-up project in which participants will submit their genetic data with the understanding they will be recontacted.

Professor Bob Williamson from the University of Melbourne, the former director of the Murdoch Children’s Research Institute, is pleased researchers are focussing on the healthy, not just the sick.

Professor Williamson said the work promised to create an extraordinary databank of material for ongoing medical research.

Professor Williamson said the information could be used to design new drugs to treat people who do develop diseases like cystic fibrosis.

The study was published …in the journal Nature Biotechnology.

http://www.abc.net.au/news/2016-04-12/research-project-aims-to-improve-detection-of-high-cholesterol/7319248

A north Queensland research project will help improve the detection and management of high cholesterol disorders in younger patients says an expert.

James Cook University (JCU) professor of general practice, Clare Heal, is involved in an upcoming project investigating familial hypercholesterolaemia.

She explains it is a genetic disorder causing high cholesterol and if left untreated, can lead to heart attack or stroke.

According to Professor Heal, many people do not realise they have the disorder until it is too late to start intervention.

However, the research project she is involved with will improve detection and management of the disorder.

As part of the project, researchers will review 10,000 medical records in Mackay to see which patients have high cholesterol and whether or not they match the criteria for genetic disorder.

Following a study in Perth, Professor Heal said that one in 400 patients who presented to a general practice in Western Australia were found to have the condition.

She added that patients diagnosed with the disorder were prescribed medication to help reduce cholesterol, and the earlier it was detected, the better off the patient would be.

Professor Heal said over the next two years, they planned to work with a number of general practices in the region to identify patients who have familial hypercholesterolaemia.

Professor Heal said she was very grateful to the Mackay Hospital Foundation for funding the research project.

Working with James Cook University and the Mackay Hospital and Health Service, she hopes to be able to improve the future health outcomes for people with the genetic disorder.

http://www.abc.net.au/news/2016-04-12/brain-scans-show-how-lsd-mimics-mind-of-a-baby/7318442

Scientists have for the first time scanned the brains of people using LSD and found the psychedelic drug frees the brain to become less compartmentalised and more like the mind of a baby.

A research team led by scientists at Imperial College London said that while normally the brain works on independent networks performing separate functions such as vision, movement and hearing, under LSD (Lysergic acid diethylamide) the separateness of these networks breaks down, leading to a more unified system.

“In many ways, the brain in the LSD state resembles the state our brains were in when we were infants — free and unconstrained,” said Dr Robin Cahart-Harris, who led the study.

The findings, published in [the] Proceedings of the National Academy of Sciences (PNAS) journal, also showed that when the volunteers took LSD, many extra brain areas — not just the visual cortex — contributed to visual processing.

This could explain the complex visual hallucinations that are often associated with the LSD state, the scientists said.

 

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