0

April 2018: 2 Science Headlines

1/ Social pressure

A drug is being tested which claims to help people on the autism spectrum with social skills. Balovaptan, said drug, acts on receptors. Receptors are located on the outside of cells and communicate commands to the inside of the cell. There receptors receive a hormone called vasopressin, which is a hormone from the brain which influences social behavior. Balovaptan is designed to block a receptor of a specific vasopressin, which might be linked to social anxiety says Larry Young, professor of psychiatry at Emory University. Basically, the brain sends vasopressin to cell receptors and some of these hormones affect social behaviour. This drug might be able to prevent the hormones affecting social anxiety. Behavioural “symptoms” of autism can be identified (but not limited to) as trouble in communication and interaction.

The idea of using drugs to change characteristics of people on the autism spectrum to “fit in” to a neurotypical society is worrying. That being said, it is important that such medication is available for the safety of the people that need them and for the mental well-being of the people that make the decision to take them.

We all have some form of social anxiety. Whether its tapping fingers, playing with your hair, flapping arms or other forms of stimming. People on the spectrum are under pressure to behave neurotypically to avoid bullying, rejection, discrimination – referred to as ‘masking’. This may be a solution for some but there’s a better one – it starts with ‘aware’ and ends with ‘ness’.

2/ Genes

Remember the MSSNG project which highlighted “an additional 18 gene variations linked to the development of ASD. Nature Neuroscience Journal, published a report on this project which found that the 18 newly-identified autism genes can be instrumental in understanding the pathways in the brain that affect how cells ‘talk’ to each other.” (The Biology of Autism)?

Remember the research published by Princeton University and Simons Foundation researchers where they analysed the human genome to try and predict which genes are likely to cause autism? They had linked about 2,500 genes to autism; we have an approximate total of 24,000. (Mr Autastic)

WELL: Researchers have found alterations of the gene thousand and one amino-acid kinase 2, known as TAOK2, which is so much fun to say out loud. The alterations found are thought to play a direct role in neurodevelopmental disorders, including autism.

Karun Singh, study co-author and researcher with McMaster’s Stem Cell and Cancer Research Institute said: “This is exciting because it focuses our research effort on the individual gene, saving us time and money as it will speed up the development of targeted therapeutics to this gene alone.”

img_6972Science is on its way to delivering answers to what causes autism. They are closer to finding out how to predict autism, and, as a result, closer to finding a way to prevent it. In the  meantime, it’s up to you to ask questions, to include to shatter stereotypes and to embrace the people around you.

 

 

Advertisements
0

Hope in millions

I just finished reading A Change of Heart. If you haven’t read it, do it right now. The next one on  my list is Inferno by Dan Brown. I had pre ordered it when it first came out and I never got around to it. Dan Brown books are the kind of books which you remember where you were when you read them. They are a journey of self discovery and they speak to each reader in a different way. Robert Langdon, the lead character, is a professor, a researcher, he is constantly looking for answers and is known for a brilliant problem-solving mind and his genius. 17195164_10154982012445030_1234091914_o

Autism can feel like a Dan Brown book some times. *Spoiler alert if you haven’t read them*

Angels and Demons is the beginning: Strange disappearances (being the diagnosis), a secret society that has infiltrated many global institutions, political, economical and religious. Autism has been around forever, but we didn’t even know what autism was in the 90’s, in Cyprus. We couldn’t Google it. It was spoken about in hushed tones and behind closed doors. When the vaccination scandal broke out and was the rebuked the conspiracy lovers amongst us looked at the big corporations, the big boys and wondered what we weren’t being told. As soon as we started researching, looking, reading we uncovered a world we had no idea existed. A powerful word and a condition so complex we had to dig deeper before we even scratched the surface.

The Da Vinci Code is the road to acceptance. It starts with murder (like all the books) that hits close to the heart. To us it was like all the dreams, hopes we had for his future had disappeared after the diagnosis. We set out on a journey to find the reason behind why this had happened. Langdon tries to solve the mystery of this ancient secret society. He breaks codes and solves puzzles. We broke sanity barriers and solved puzzles. Our Holy Grail was finding out how to reverse this. However, when he spoke his first word, we found out that all we had to do was love him for who he was. The answer is in his heart, in our love for him. He was the Holy Grail all along.

The Lost Symbol is about growing up, about realising what you are made of; a severed hand, the story of the prodigal son resonates throughout the book. A son away from home, who always had home with him. It reminds me of leaving Chris to come live in the UK. True, I do not think of myself as the angel Moloch, nor do i intend to. But throughout the book Langdon is submerged in his research around the hidden Ancient Mysteries whose knowledge is now lost to mankind because we have stopped looking at it the right way. The Lost Symbol is  knowledge. Knowledge by education, by research, by constantly learning. That’s what awareness is all about, knowing ones self is the missing key that prevents humans from realising their true potential; that there is a bit of divine in all of us. Whether we are neurotypical or neurodiverse.

This months hope is found in research.

Edinburgh University has been given £20m for autism studies. The Simons Foundation has made the contribution hoping to delve into the biological mechanisms that underpin changes in brain development linked with autism. You may remember – or not – that the Simons Foundation was also the foundation i wrote about in 2016. (see below)

Scientists based in the university’s Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities will use advanced techniques to probe brain development in the presence of DNA changes known to cause autism. They will be looking into the wiring variety of the brain and how it can affect how it can processes information.

There are so many on going projects around the world regarding autism right now. The poo research, the discovery of ASD genes that have never before been linked to autism show that we are now committed to investing big sums in search of a holy grail, a Word, a lost symbol. We are venturing out to the unknown in search of a gene, a pattern, a puzzle piece.

Stay tuned for Inferno.

3

Mr Autastic

I may have a disability but I also have feelings” says 10-year-old Harrison Cole from Cramlington. Harrison made a video about how his society treats his ADHD and Autism diagnosis. He has been called rude, naughty and a trouble maker; one stranger even told his mother that he needed a good smack. Yeah, thanks stranger for your words of wisdom – I’m sure mothers of autism everywhere will treasure your little pearl of advice for generations to come. Watch his adorable video here; he’s been nicknamed Mr Autastic – could be a superhero? Harrison’s mum and dad set up Autism Northumberland to share their experiences with their community and to help other families in the area. I will refrain from going on a rant about ignorance AGAIN. Instead, lets educate ourselves today.

Today’s top news, for me, is a research published by Princeton University and Simons Foundation researchers.

They have been working on developing a machine-learning approach which will analyse the human genome and will predict which genes are likely to cause autism. Yes, they have developed a way to analyse the entire gene pool of a human and pick out the genes that would grow to cause autism. They have linked about 2,500 genes to autism; we have an approximate total of 24,000. I don’t know how much you know about science – but this has blown my mind. To date, only about 65 autism genes out of an estimated 400 to 1,000 have been found through sequencing studies. This is attributed to the highly complex nature of autism and and the span of the spectrum.

The research team have been trying to complement this database of genes and so developed this machine-led approach which uses a  functional map of the brain and can enable the observer to make a genome-wide prediction of genes that may carry the risk of autism. This pool of genetic material also includes hundreds of genes for which there is minimal or no prior genetic evidence. Arjun Krishnan is an associate research scholar in Princeton and said that this work is obviously “significant because geneticists can use our predictions to direct future sequencing studies, enabling much faster and cheaper discovery of autism genes“. So they are expanding the database from which researchers will extract data, prioritise it, analyse it and associate it to autism. This team is set to discover ASD genes that have never before been linked to autism. I don’t even know how this happens but its rocking my world at the moment. Olga Troyanskaya, the professor of computer science and genomics at Princeton, adds: “Our paper describes the first prediction of genes associated with autism spectrum disorder across the whole human genome.” 

I can’t wait to read the findings, keep an eye out for them in the Nature Neuroscience journal.

If we get closer to finding out how to predict autism, we get closer to finding a way to prevent it. While Princeton is being scientific and conducting earth-shattering research, Harrison, Christos, Stephanos, Hallee and the other kids out there, all the mums and dads, sisters, brothers, grandparents and all you amazing people in this beautiful autism community have to keep doing what you are doing.

Keep trying to make the world autism-friendly.

In the meantime, until the genes catch up, here’s a smile from the Pereras to the Coles 🙂