Autism breakthrough as scientists find 70 genes ‘strongly linked’ to condition

On Aug 18, 2022

Scientists have discovered dozens of genes that are ‘strongly’ linked to autism, in what could be a breakthrough.

Researchers hope the 70 newly-discovered genetic variants could pave the way for new tests and treatments for the condition.

In the largest study of its kind, US researchers looked at the DNA of 150,000 participants, 20,000 of whom had diagnosed autism.

They identified the biological changes in the brain that contribute to autism.

Autism and related conditions such as Asperger’s affect more than one in 100 British children and one in 70 American youngsters — ten times more than 30 years ago.

Despite the rise, the condition is still little understood and getting a diagnosis can be lengthy and stressful for patients and their families.

Families are often forced to attend multiple hospital appointments and have children put through several psychological tests.

While drugs can be given to control symptoms such as aggression or hyperactivity, there is no cure.

Scientists are one step closer to solving the riddle of autism after discovering more than a hundred new genes linked to the condition

What are the signs of autism?

Signs of autism in young children include:

Not responding to their name
Avoiding eye contact
Not smiling when you smile at them
Getting very upset if they do not like a certain taste, smell or sound
Repetitive movements, such as flapping their hands, flicking their fingers or rocking their body
Not talking as much as other children
Repeating the same phrases

Signs of autism in older children include:

Not seeming to understand what others are thinking or feeling
Finding it hard to say how they feel
Liking a strict daily routine and getting very upset if it changes
Having a very keen interest in certain subjects or activities
Getting very upset if you ask them to do something
Finding it hard to make friends or preferring to be on their own
Taking things very literally – for example, they may not understand phrases like ‘break a leg’

Common signs of autism in adults include:

Finding it hard to understand what others are thinking or feeling
Getting very anxious about social situations
Finding it hard to make friends or preferring to be on your own
Seeming blunt, rude or not interested in others without meaning to
Finding it hard to say how you feel
Taking things very literally – for example, you may not understand sarcasm or phrases like ‘break a leg’
Having the same routine every day and getting very anxious if it changes

Source: NHS

The latest study, published in Nature Genetics, pooled data from autism research initiatives, such as the Autism Sequencing Consortium, as well as the Massachusetts Institute of Technology and Harvard.

They looked at the genomes of 170,000 people, a tenth of whom had autism.

As well as the 70 genes that appear to be behind autism, they spotted a further 250 that are also association with it.

Study co-author Dr Joseph Buxbaum, director of the Seaver Autism Center for Research and Treatment at Mount Sinai in New York, said: ‘We know that many genes, when mutated, contribute to autism.

‘In this unprecedented study, we were able to bring together multiple types of mutations in a wide array of samples to get a much richer sense of the genes and genetic architecture involved in autism.

‘This is significant in that we now have more insights as to the biology of the brain changes that underlie autism and more potential targets for treatment.’

He said a ‘precision medicine approach’ based will likely be needed for autism, that is based on a person’s genes.

And people should be genetically tested for autism to help develop new medicines that ‘benefit families and individuals at risk for autism spectrum disorder’, Dr Buxbaum said.

‘The more we can advance therapeutics, based on the targets identified in these genetic findings, the more people we have the potential to help, which could have a significant impact in addressing autism and developmental delay worldwide,’ he added.

The team then examined the activity levels of genes they uncovered, which are located in developing human neurons — the building blocks of the brain.

This showed that genes strongly linked with autism overlap with genes that increase the risk of schizophrenia.

Dr Buxbaum said: ‘These analyses indicate that there are shared genetic risk factors between autism and other neurological and psychiatric disorders.’

The researchers say their findings offer the ‘most comprehensive look yet’ at genetic variation among those with autism and other neurodevelopmental conditions.

They shed light on the ‘molecular roots’ of brain development and neurodiversity and provide new avenues for future research on the biology of autism, the team said.