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.




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 🙂