Daily Bulletin


Daily Bulletin

The Conversation

  • Written by Jozef Gecz, Professor of Human Genetics, University of Adelaide
image

We have identified 38 new genes that are strongly associated with autism and intellectual disability. Some of the genes appear to be primarily associated with autism, and others primarily associated with intellectual disability.

We also found evidence reinforcing the importance of 53 previously identified genes in autism and intellectual disability.

Improved knowledge of genes involved in autism and intellectual disorders will allow families to better anticipate the needs of their children and guide early learning and social supports. It may also lead to better understanding of the fundamental processes of learning, memory and behaviour.

New genes linked with autism and disability

Unravelling the genetic contribution to autism and intellectual disability is not about blaming parents or categorising children. Rather, it can improve opportunities for accurate diagnosis and early interventions. More than 50% of individuals with autism or intellectual disability do not currently have a precise diagnosis.

We assessed DNA from more than 11,700 patients from 15 centres across seven countries and four continents. The patients recruited for this study had a clinical diagnosis of autism and/or intellectual disability. We also assessed DNA from 2,800 individuals without disability, our control group.

Of the 38 new genes identified, mutations in eight in particular were most strongly linked to patients with autism, often high-functioning autism (characterised by relatively high intellectual ability). Mutations in 17 of the new genes were most strongly linked with intellectual disability.

For the majority of the genes, however, it was not possible to assign them as being more commonly associated with either autism or intellectual disability.

We were surprised that the majority of the mutations – about 65% – were inherited from one or the other parent, who were unaffected or much less severely affected with autism or intellectual disability. These mutations do not appear to be sufficient to cause autism or intellectual disability on their own, interacting with other genetic or non-genetic factors to do so.

For now, we do not know which other factors partner with genetic mutations to cause disability, or whether factors may protect the unaffected individuals with these mutations from having autism or a disability. Searching for these “safeguards” or “accomplices” is important, as their identification may help us to develop better diagnostic and therapeutic tools for these conditions in the future.

Genetic information can help family decisions

This study provides strong evidence for the role of 91 genes in autism and intellectual disabilities. That opens up the possibility of using DNA-sequencing technologies to search for these genes in individuals with undiagnosed disabilities across the world.

We can also plan new approaches to correct the functioning of these genes or minimise consequences of their malfunction.

Precise genetic knowledge relating to autism or intellectual disability is expected to help families and health care providers, allowing them to better appreciate the extent of clinical complications typically associated with a specific gene mutation. Such information is very important, especially when a DNA diagnosis of a developmental disability is reached at an early age and many questions about future development of the child are asked and need to be managed.

It could also lead to a precise test for families looking for guidance in future reproductive decisions.

Genes and environment shape brain function

A high proportion of autism and intellectual disability still remains undiagnosed. This current study adds to existing evidence that a proportion of these conditions do have a genetic component. More genes will undoubtedly be discovered in the future.

However we also hope to better understand not just the genetic contribution but also the role of the environment in shaping how autism and intellectual disability develop.

Better knowledge of the genetic and non-genetic factors that shape brain development will help clinical management, education and support for individuals and families.

The majority of this work was directed and performed by Evan Eichler.

Authors: Jozef Gecz, Professor of Human Genetics, University of Adelaide

Read more http://theconversation.com/what-will-my-childs-life-be-like-newly-identified-genes-may-help-diagnose-autism-and-disability-72802

Writers Wanted

Climate explained: humans have dealt with plenty of climate variability

arrow_forward

Why do bankers behave so badly? They make too much money to ask questions

arrow_forward

Incredible balcony makeovers to inspire your gardenless gardening

arrow_forward

The Conversation
INTERWEBS DIGITAL AGENCY

Politics

Did BLM Really Change the US Police Work?

The Black Lives Matter (BLM) movement has proven that the power of the state rests in the hands of the people it governs. Following the death of 46-year-old black American George Floyd in a case of ...

a Guest Writer - avatar a Guest Writer

Scott Morrison: the right man at the right time

Australia is not at war with another nation or ideology in August 2020 but the nation is in conflict. There are serious threats from China and there are many challenges flowing from the pandemic tha...

Greg Rogers - avatar Greg Rogers

Prime Minister National Cabinet Statement

The National Cabinet met today to discuss Australia’s COVID-19 response, the Victoria outbreak, easing restrictions, helping Australians prepare to go back to work in a COVID-safe environment an...

Scott Morrison - avatar Scott Morrison

Business News

How To Remove Rubbish More Effectively

It can be a big task to remove household rubbish. The hardest part is finding the best way to get rid of your junk. It can be very overwhelming to know exactly where to start with so many option...

News Company - avatar News Company

4 Tips To Pass Skills Certifications Tests

Developing the right set of skills is valuable not only to your career, but for life in general. You can get certified in these skills through obtaining a license. Without a certified license, y...

News Company - avatar News Company

How to Secure Home-Based Entrepreneurs from Cyber Threats

Small businesses are becoming a trend nowadays. The people with entrepreneurial skills and minds are adopting home-based businesses because of their advantage and ease of working from home. But...

News Company - avatar News Company



News Company Media Core

Content & Technology Connecting Global Audiences

More Information - Less Opinion