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Breakthrough in autism as scientists find 70 genes ‘strongly associated’ with the condition


Breakthrough in autism as scientists find 70 genes ‘strongly associated’ with the condition

  • American scientists examined the DNA of 150,000 people, of which 20,000 had autism
  • They have identified biological changes in the brain that contribute to autism
  • These 70 genetic variants could pave the way for new tests and treatments

Scientists have discovered dozens of genes that are strongly linked to autism, which could be a breakthrough.

Scientists hope the more than 70 newly identified genetic variants could pave the way for new tests and treatments for the condition.

Autism and related conditions such as Asperger’s syndrome affect more than one in 100 British children and one in 44 American young people – ten times more than 30 years ago.

Despite the increase, the condition is still poorly understood and diagnosis can be time-consuming and stressful for patients and their families.

Families are often forced to attend multiple hospitalizations and have children undergo multiple psychological tests.

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

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

They identified 72 genes that are “very strongly” associated with the condition, and hundreds more with looser associations.

We hope the latest study, published in Nature Genetics, will help future research teams narrow their focus.

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 different types of mutations across a wide range of samples to gain a much richer picture of the genes and genetic architecture involved in autism.”

“This is significant in that we now have more insight into the biology of the brain changes that underlie autism and other potential targets for treatment.”

The study used an autism cohort of 63,000 individuals, of whom 20,000 had the condition, and a developmental delay cohort of 91,000 people.

Statistical analysis revealed 72 genes strongly associated with autism, as well as 252 others that are highly likely to be involved in the condition.

Genes linked to autism tended to affect mature neurons – which can no longer divide unlike other neurons and appear early in development.

In comparison, those associated with developmental delay are more likely to be active during neuron development, although the two may “overlap.”

Buxbaum said autism will likely require a “precision medicine approach” that is based on a person’s genes.

And people should be genetically tested for autism to help develop new drugs 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 on addressing autism and developmental delays around the world,” he added.

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His team collected 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 about 150,000 people, of whom 20,627 had autism.

In addition to the 72 genes that appear to be behind autism, they discovered another 250 that are also associated with the condition.

Autism refers to a wide range of conditions characterized by problems with social skills, repetitive behavior, speech and non-verbal communication.

What are the symptoms of autism?

Symptoms of autism in young children include:

  • They don’t respond to their name
  • Avoiding eye contact
  • Don’t smile when you smile at them
  • They get very upset if they don’t like a certain taste, smell or sound
  • Repetitive movements such as waving your arms, flicking your fingers, or rocking your body
  • He doesn’t talk as much as other children
  • Repeating the same phrases

Symptoms of autism in older children include:

  • They don’t seem to understand what others are thinking or feeling
  • It’s hard to say how they feel
  • You like a strict daily routine and get very upset if it changes
  • A very keen interest in certain subjects or activities
  • You get very upset when you ask them to do something
  • It’s hard to make friends or prefer to be alone
  • Take things very literally – for example, they may not understand phrases like “break a leg”

Common symptoms of autism in adults include:

  • It is difficult to understand what others are thinking or feeling
  • Being very anxious about social situations
  • It is hard to make friends or prefer to be alone
  • Seemingly blunt, rude, or uninterested in others without meaning to
  • It’s hard to say how you feel
  • Take things very literally – for example, you may not understand sarcasm or phrases like “break a leg”
  • Having the same routine every day and being very anxious if it changes
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Source: NHS

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