The National Institutes of Health just awarded $50million to 13 different research sites to better understand genetic and environmental contributions to an autism diagnosis, or increase in prevalence in autism, as well as environmental factors which improve the quality of life for children and adults with ASD.
You can read about them here or listen to this 30 minute podcast which summarizes them.
https://dpcpsi.nih.gov/autism-data-science-initiative/funded-research
In an effort to better understand the causes of autism in those with a known genetic variant associated with ASD or other developmental disorders, in 2010, the Simons Foundation launched Simons VIP, now known as Simons Searchlight – an online international research program studying nearly 200 rare genetic neurodevelopmental disorders and working with over 60 patient advocacy groups across these conditions.
Since its inception, it has grown to not just study specific genes, but to provide de-identified aggregate data to researchers & industry, support for patient advocacy groups to bring together families & researchers (thanks to the generosity of the Simons Foundation), identify even more genes associated with autism, and create international communities.
These communities share similar underlying mechanisms even though there are sixty genes represented within Simons Searchlight. This week’s podcast episode is a conversation with the principal investigator of Simons Searchlight, Dr. Wendy Chung, talks about why genes associated with autism and other neurodevelopmental disorders are so important to study, what the scientific community has learned, and how Patient Advocacy Groups have grown and flourished as a result of this understanding.
On this week’s podcast episode, Drs. Casey Burrows from @UMN and Shuting Zheng from @UTexas discuss a new paper looking at sex differences in autism features from 20-40 months of age. A new analysis done with data from the Baby Siblings Research Consortium concludes that, early in life, girls with autism show differences in some autism features (like joint attention) compared to boys. There are many reasons for this, including that boys and girls are just different, period. However, it adds to mounting data which may help explain why more males are diagnosed compared to females. More research needs to examine how girls and females present, what symptoms are harder to observe in females andy why, and most importantly, sheds insight how girls and females with autism need to be specifically supported. More here:
https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2837366
As the autistic brain ages, is it more vulnerable to other brain disorders? Recent scientific discoveries in Parkinson’s Disease and Alzheimer’s Disease show that there may be an underlying mechanism between these diseases and autism. However diagnosing someone with autism with an additional brain disorder, especially dementia, can be difficult. This week’s podcast covers the increased risk of Parkinson’s Disease in autism, as well as provides advice from a group of experts on how to diagnose an autistic person with dementia, since there may be overlap in features.
This week’s ASF weekly science podcast episode features Dr. David Amaral, who directs the Autism BrainNet. The Autism BrainNet is a program that organizes the collection of post-mortem brain tissue and then distributes it to autism researchers worldwide to better understand the brains of people with autism. He discusses major scientific discoveries about the mechanisms of autism in the brain that were only possible by using this resource, and the brave generosity of families that make the program happen. Anyone can register to learn more about new scientific research and the program itself, it’s important that everyone at least know the program exists for future planning. You can learn more here: www.autismbrainnet.org.
This week’s podcast episode includes Storyform Science founders H. Adam Steinberg and Holly Kerby, both scientists who now help other scientists use storytelling to convey the importance of their findings to a broad community. Anyone can do it, and it is so important to help communicate to the public, convince policymakers to listen and granters to fund research. They offer an online course starting in July to help students do this, you can learn more here: https://storyformscience.com.
The podcast includes visuals, so it is also posted on youtube here: https://youtu.be/hTFcpeVx4gI
Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? On this week’s podcast episode, scientists from Jaguar Therapeutics discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is, how it works, how it is used and what is monitored during these treatments.
This year’s International Society of Autism Research Meeting was filled with great presentations about causes, diagnosis, interventions, mechanisms, supports, understanding sex differences and different populations of those with autism. But not everyone could fly to Seattle to attend. This week’s podcast episode provides a short summary of just some of the science presented. Michael Lombardo provided a keynote that included data from his research included on this podcast: https://blubrry.com/asfpodcast/137452290/factors-that-influence-heterogeity-and-how/
If you would like a copy of the INSAR program book, email me at ahalladay@autismsciencefoundation.org. Sorry, it’s too large to attach in the summary!
Contextual factors, or external factors, are environmental influences and can impact not just a diagnosis but the life course of a person with autism and their families. A recent commentary by autism researchers around the world highlights the importance of these factors and provides resources on how they can be collected in a rigorous, but accessible, way. On this episode, Dr. Marsha Mailick, lead author of the commentary, discusses the definition of contextual factors, why they are important, and how they can influence development. Read the commentary – open access – here: https://onlinelibrary.wiley.com/doi/10.1002/aur.3312
On this week’s podcast, Dr. Elaine Clarke from @RutgersU discusses the role of adaptive behavior. This refers to the wide range of skills that a person with autism can exhibit. Can they hold a conversation? Dress themselves? Prepare a meal? These sets of skills are strongly influenced by cognitive ability. Dr. Clarke will talk about the link between cognitive ability and adaptive behaviors and while there may be differences in the abilities across the spectrum, it means clinicians and families need to aim for what works best for their individual child. Read more below:
https://pubmed.ncbi.nlm.nih.gov/38317766
It happens every year – this one belonged in the 2024 year end highlights but was published late in the year. Researchers at UCSD, UCLA and CHLA followed families with autism whose genetic test revealed a rare variant. Did it make a difference in care? Understanding? Referrals? Listen to this week’s podcast episode to learn all about it. If you are in need of a genetic test, here are some things to know: https://www.alliancegenda.org/genetic-testing
Reference here: https://www.sciencedirect.com/science/article/pii/S1098360024002673
While it may not seem like it, the COVID-19 pandemic brought some advances in care and understanding for people on the spectrum. One example is the development and validity of remotely administered assessments that families can participate in from home rather than travel to a clinic. These tools were built out of necessity, and are evolving into a set of tools that can be used to build better outcome measures for clinical trials. This round focused on those with autism and a rare genetic variant or “neurogenetic syndromes” since these individuals have a known biological etiology of autism. However, they may be further improved to be utilized across the autism spectrum. Listen to this week’s podcast episode to learn more.