A landmark study that uses brain organoids from different people with different genes associated with autism showed that the different genes act as roads that go on different journeys to the same destination. This will be an enormously important discovery for identifying targets to treat different autism symptoms across different genetic causes of autism and understand the diversity of symptoms. Also, the new Interagency Autism Coordinating Committee was announced and there is not much breadth of perspectives.
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 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.
If you are having problems accessing a genetic test, here are some tips
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.
Two therapies that are meant to alter brainwave activity, called Transcranial Magnetic Stimulation and Transcranial Direct Current Stimulation are receiving a lot of attention for potential efficacy in treating autism. They are non-invasive, which means treatment is provided on the scalp. While results vary, the overall evidence does not support these two interventions in helping to treat core autism features. However, as TMS is approved for depression and OCD, people should ask their doctors about these potential treatments if they suffer from these conditions. Learn more in the articles below:
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? If you are in need of a genetic test, here are some things to know: https://www.alliancegenda.org/genetic-testing
….or at a podcast with at least an attempt at an explanation of what synaptic density is and how it is affected in brains of people with autism. This week we review three convergent lines of evidence – whole brain, brain cell then genes within those brain cells – that show that the autistic brain has a decrease in cell-to-cell communication in multiple brain regions, leading to social communication impairments.
New research points to a previously understudied but fascinating mechanism by which environmental factors may lead to autism: it’s called the “GABA/glutamate switch” which is a critical period in development when certain cells turn from turning on cell activity to turning them off. These environmental factors may delay this process leading to long term effects on the developing brain consistent with autism. While this data on the mechanism is brand new, the topic of the environment in autism was inspired by a recent effort at NIEHS which is developing an interactive database for people to access information about what environmental exposures have been studied and how in autism.
In honor of the last week of Autism Awareness/Acceptance Month, we review two new scientific findings that call for more awareness and action, and less acceptance of the status quo. First: sex differences in autism are not well understood, and as it turns out, the influences on a diagnosis are different. Males have a higher rate of heritability compared to females. Second, those with rare genetic disorders have very few options for treatment, but a new study promises hope for more personalized approaches. The researchers use Timothy Syndrome as an example of how cells can start to function properly through a targeted approach which focuses on a small part of a gene. This is potentially life saving for individuals with this disorder.
This week we talk to Sergiu Pasca from Stanford University. He has revolutionized the field of understanding the field of brain development in neurodevelopmental disorders and just published a new study which examined the genetic influence of brain assembly. The way he does this is quite remarkable. His lab uses assembloids, which are many many many stem cells which form into a tiny brain. He explains what an interneuron is, why it is important for brain function, and how genetics can influence how these neurons work. This way the development of the brain from the first cell can be tracked and even manipulated to understand what happens in autism, and what therapies might be the most helpful to target these interneurons. Thank you Dr. Pasca.
Can biomarkers that measure things like visual social attention be a good proxy for an in person behavioral diagnosis? Why would this be important? This week’s podcast explores two new studies the the Journal of the American Medical Association that show a simple device called EarliPoint can be used to shorten the wait times to receive a diagnostic evaluation. Currently autism can be diagnosed at 18 months but most families do not get into an appointment until 4-5 years of age. That can change. Families were able to easily complete it, it predicted things like not just a diagnosis but behavioral features and cognitive ability. It’s been deployed in 6 speciality centers, been approved by the FDA, and hopefully coming to a clinic near you soon.
