Autism breakthrough as scientists find 70 genes ‘strongly linked to condition’
- US researchers examined the DNA of 150,000 people, 20,000 of whom had autism
- They identified the biological changes in the brain that contribute to autism
- The 70 genetic variants could pave the way for new tests and treatments
Scientists have discovered dozens of genes “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 examined the DNA of 150,000 participants, 20,000 of whom had been diagnosed with 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 adolescents – 10 times more than 30 years ago.
Despite the rise, the disease is still poorly understood, and diagnosis can be lengthy and distressing for patients and their families.
Families are often forced to attend multiple hospital appointments and have their children undergo multiple psychological tests.
While medication can be administered to control symptoms such as aggression or hyperactivity, there is no cure.
Scientists are one step closer to solving the mystery of autism after discovering more than a hundred new genes linked to the disease
What are the signs of autism?
Signs of autism in young children include:
- Doesn’t respond to her name
- Avoid eye contact
- Don’t smile when you smile at her
- Get very upset if they don’t like a certain taste, smell, or sound
- Repetitive movements such as For example, slapping your hands, snapping your fingers, or rocking your body
- Don’t talk as much as other kids
- repeating the same sentences
Signs of autism in older children include:
- Doesn’t seem to understand what others are thinking or feeling
- They find it difficult to say how they feel
- Like a strict schedule and get very upset when it changes
- Have a very strong interest in a specific topic or activity
- Get very upset when asked to do something
- They find it difficult to make friends or prefer to be alone
- Take things very literally – for example, they may not understand phrases like “break a leg.”
Common signs of autism in adults include:
- Difficulty understanding what others are thinking or feeling
- Very anxious in social situations
- You find it difficult to make friends or prefer to be alone
- Being blunt, rude, or uninterested in others without intending to be
- It’s hard for me to tell you how you feel
- Take things very literally – for example, you may not understand sarcasm or phrases like “Break your leg.”
- Having the same routine every day and becoming very anxious when 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 examined the genomes of 150,000 people, 20,627 of whom were autistic.
In addition to the 70 genes that seem to be behind autism, they discovered another 250 that are also associated with it.
The co-author of the study, Dr. Joseph Buxbaum, director of the Seaver Autism Center for Research and Treatment at Mount Sinai in New York, said: “We know that many mutated genes contribute to autism.
“In this unprecedented study, we were able to bring together multiple types of mutations in a wide range of samples to gain a much more comprehensive understanding of the genes and genetic architecture involved in autism.
“This is significant as we now have more insight into the biology of the brain changes underlying autism and more potential treatment targets.”
He said a “precision medicine approach” to autism, based on a person’s genes, is likely needed.
And people should be genetically tested for autism to help develop new drugs that “benefit families and individuals at risk for autism spectrum disorders,” said Dr. box tree.
“The more we can advance therapeutics based on the targets identified in these genetic discoveries, the more people we can potentially help, which could have a significant impact on the fight against autism and developmental delays worldwide,” he added.
The team then examined the activity levels of the discovered genes, which are found in developing human neurons – the building blocks of the brain.
This showed that genes strongly associated with autism overlap with genes that increase risk for schizophrenia.
dr Buxbaum said, “These analyzes indicate that there are common genetic risk factors between autism and other neurological and psychiatric disorders.”
The researchers say their findings provide the “most comprehensive insight yet” into genetic variation in people with autism and other neurodevelopmental disorders.
They shed light on the “molecular roots” of brain development and neurodiversity, and offer new avenues for future research into the biology of autism, the team says.