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.
This year was a VERY eventful year for autism. If you want to hear a highlight of the good news, the great science that was discovered and the ideas developed to help families with autism, listen to this podcast or read the summary here: https://autismsciencefoundation.org/2025-year-in-review/. In summary: more precise subtypes of autism have been discovered and validated using biological markers, explanation for sex differences, new precision medicines for those with known genetic causes of autism, and new research studying the effects of early intervention. It was a great year for science, even with all the challenges from DOGE.
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
There is a cell in the brain called the microglia which has been traditionally overlooked as a target for therapies. New research supported by ASF and @FraxAresearch suggests that altering the function of microglia in the brain may help support the development of healthy and functional connections in the brain that may be impaired in autism, making the microglia a prime candidate for research. Drs. Marine Krzisch from @UniversityofLeeds and Dr. Mike Tranfaglia at @FraxAResearch describe the approach and how it can be developed to create specific therapies, that when combined with behavioral interventions, can drastically alter someone’s abilities. Dr. Krzisch is also interviewing families about how the findings will be explained when they are ready, what is important to them and what should research emphasize in the future. Participants will be compensated, just email her: M.Krzisch@leeds.ac.uk
The past couple of weeks have been a flurry of decisions involving government funding for research and health and wellness services. It’s been difficult to understand their impact without understanding the process in which science is evaluated for funding and policies around support of universities where the research takes place. In this podcast, we will clarify what environmental factors are associated with autism (not vaccines), summarize how grants are reviewed and what effect stopping them will have, and explain new rules around how much money research institutions receive in order to support that research, those “indirect costs” and what cutting them will mean for Research Institutions.
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
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.
This week, more on genetics as an influence to an autism diagnosis with a twist: can genetics lead to a specific treatment for core symptoms – across the board? How do you measure such broad symptoms? Our Rett Syndrome family friends and colleagues developed a novel outcome measure to capture what was most important to them, and the FDA approved it for use in a clinical trial. Years later, a new drug was approved that led to a reduction in behaviors associated with Rett Syndrome. Autism can take a lesson from this. In addition, can the genetics of autism be explained by parents with similar phenotypes? This is called assortative mating. The answer is complex.
Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.
Everyone knows that every person with autism has their own unique strengths and challenges. Autism is heritable, and there are over 100 genes associated with autism. There are also an unknown number of environmental factors influencing outcome, so the heterogeneity is not necessarily surprising. But why would two people with the same genetic mutation have variable outcomes? Researchers led by the Institut Pasteur in France looked at the range of outcomes in people with a rare genetic mutation associated with autism, focusing on those without an autism diagnosis. This week’s podcast is an interview with the lead author of the paper, Thomas Rolland, PhD from France. The presence of the variants in those without ASD were associated with lowered cognitive ability, education level and employment status. The bottom line of these finds are that genes affect proteins which form the brain and control brain function. However, there are multiple factors that influence outcome. Some of them may be sex or gender, prenatal exposures. It’s not just one thing, there are many things influencing an autism diagnosis.
