5 Questions with MARAbio Founder & Chief Science Advisor, Dr. Judy Van de Water
Breakthroughs in the study of a sub-type of autism are powering a new area of precision-medicine to change the future of autism. MARAbio’s pioneering Founder & Chief Science Advisor shares her thoughts on what’s at stake and what’s in store.
Guest blog post from MARAbio Founder & Chief Science Advisor, Dr. Judy Van de Water
Q1: As it has grown in prevalence, autism has gained greater awareness, yet because of its complexity autism seems to mean something different to each of us. Could you begin by sharing some context on what autism is and why it deserves our attention, energy, and investment?
A: Today, the likelihood of a child being diagnosed with autism is estimated at 1 in 36, according to the latest statistics from the Centers for Disease Control and Prevention. That’s up from approximately 1 in 500 at the start of the new millennium, when I first began my work in this area. Autism can be difficult to diagnose in that it manifests with diverse features and conditions that generally relate to differences in social communication abilities and behavioral flexibility. These differences have varying impacts on daily life, from being significantly disruptive, to somewhat manageable, to easily manageable. For instance, there are many examples within this neurodiverse community of highly accomplished self-advocates who consider their unique cognitive process to be a form of personal “superpower.” However, there’s also the reality of vastly different scenarios, where a child can remain stalled in their progress or even lose developmental skills, when behaviors like aggression and self-injury become part of daily life, and when more intensive, ongoing care is needed.
Although there are many different voices and perspectives on the subject of autism, there’s tremendous alignment around the fact that better scientific understanding of autism leads to earlier recognition and the opportunity to help individuals with autism reach their full human potential.
Autism deserves our attention, energy, and investment because failing to address something so prevalent creates a ripple effect of challenges and lost potential that extends beyond the individual, to their families, educational institutions, and our society as a whole. This complexity along with the richness of the possibilities and human potential that can result from unraveling its mysteries are at the core of what drove me as a scientist to found MARAbio.
Q2: Your work for the past 20 years has been tightly focused on Maternal Autoantibody Related Autism (or MARA), a subtype of the condition. Why is it so important to understand the specific science behind an individual subtype of autism?
A: Autism is referred to as a “spectrum” because it is so diverse and complex in its forms and attributes. Some have suggested that we might more accurately refer to it in the plural form as “the autisms.” Observers have noted that autism shares similarities to cancer in that it is framed as a single condition, when in reality it is an aggregation of a wide range of scientifically differentiated forms, or subtypes. This is an important insight, because the world has witnessed tremendous gains made in recent years using “precision oncology” to radically improve outcomes for patients with certain forms of cancer. Similarly, my research at MARAbio continues to focus on profiling autism on the molecular level and that work is paying off in a big way. Our science offers the first and only precision-medicine oriented approach for autism. We believe that by cracking the code on a specific subtype of autism, in this case MARA, we’re creating the roadmap for understanding forms of autism with the same precision that has propelled oncology into the targeted therapies that are now achieving radically improved patient outcomes.
Q3: Can you take us a little deeper into the science to give us a glimpse of unique discoveries from your research at MARAbio and earlier at the UC Davis MIND Institute related to the MARA subtype, what it is, and how it works?
A: My first scientific discoveries related to autism were made while working on a pilot grant at the UC Davis MIND Institute in 2000. We later published a major scientific paper demonstrating clear linkages between the presence of certain autoantibodies within mothers and the occurrence of a subtype of autism in their children. More specifically, our work went on to identify the presence of eight distinct autoantibodies that are known to cross the placenta, beginning near the 100th day of gestation, thereby leading to Maternal Autoantibody Related Autism, which is now broadly referred to as MARA. This was the first-ever discovery of a biological cause of autism.
The MARA subtype of autism represents as much as 20% of overall cases, or approximately 600,000 cases annually. When compared with autism overall, the MARA subtype tends to result in more severe characteristics, including an increased risk for an intellectual disability diagnosis. Individuals with MARA are therefore more likely to be non-verbal, and typically are unable to advocate for themselves.
Q4: In basic terms, what do these discoveries mean for stakeholders within the autism community? What new pathways and medical approaches are made possible through this science?
A: As you might expect with a condition as widespread as autism there are many sets of hopeful eyes following our work. We launched MARAbio to act on our breakthrough to 1) provide scientific answers and peace of mind for mothers, and 2) to give their children an opportunity for the best possible outcomes. I’m extremely gratified that our team has stepped up to this challenge in a big way.
We are now able to identify risk of autism through a first-of-its-kind actionable test that assesses risk of having an autistic child. By providing prospective mothers with a simple blood test prior to (not during) pregnancy, as well as early post-natal, our goal is to provide families with options to materially reduce the occurrence and severity of MARA. Through our test, families and their physicians can be equipped with medically actionable information to prevent and limit the severity of this type of autism, through pre-pregnancy and post-natal interventions.
Prospective mothers will soon be able to include a MARAbio test among the battery of carrier screening options that are widely used prior to pregnancy. Infants will be able to be accurately diagnosed (via a test of their mother) and begin specific life-changing behavioral treatments without losing valuable time waiting for a child’s symptoms to first appear and eventually be diagnosed (providing a meaningful head start over the currently available approaches).
Q5: Looking further into the future, how do you see MARAbio evolving, and what’s next on your agenda as you build upon and leverage your breakthrough science?
A: We’re excited about the road ahead because we view our discoveries as only the first of many critical steps along a breakthrough pathway. And importantly, as the first and only precision-medicine oriented approach to autism, MARAbio’s underlying science provides a pathway for treating autism with the kind of precise, targeted therapies that have significantly improved patient outcomes in oncology.
At this time, MARAbio will only offer testing prior to pregnancy or after a child is born. However, there are novel technologies in use within the broader medical science community for the removal of a range of other harmful antibodies such as the emerging blockbuster class of Fc receptor (FcRn) antagonists that have shown to be safe and effective in pregnant women for blocking harmful antibodies from crossing the placenta during pregnancy. Going forward, these are among the exciting developments we intend to pursue and adapt to create a therapeutic intervention for MARA. This is but one prospective scenario, pointing to the many ways our science could evolve to assist women during pregnancy at some point in the not too distant future.
It’s an exciting time and our team’s heart (and science) is in the right place. With the support of extensive research and experts in diagnostics, therapeutics, and autism, MARAbio’s goal is to reduce the occurrence and severity of Maternal Autoantibody Related Autism and ultimately change the future for those most severely impacted by autism. We’re on an important mission and we look forward to sharing more breakthroughs in coming months, so stay tuned. If you would like to learn more about our work, please visit us online at www.marabio.com or drop us a note at info@marabio.com.
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About the Author
Judy Van de Water, PhD is Founder & Chief Science Advisor, MARAbio. As an active, highly published researcher, and NIH-funded investigator, Dr. Van de Water is recognized as a world expert on the role of the immune system in autism and other developmental disorders. After joining the Department of Internal Medicine at the University of California, Davis in 1999, she then joined the faculty of the newly formed UC Davis M.I.N.D. Institute in 2000. There, she began her research on the immunobiology of autism. Dr. Van de Water’s laboratory focuses on autoimmune and clinical immune-based disorders and the biological aspects of autism. This includes understanding the role of the maternal immune system during pregnancy in healthy and altered neurodevelopment. Her immunopathology background has been instrumental in the dissection of the immune anomalies noted in some individuals with autism, and in the differentiation of various autism behavioral phenotypes at a biological level. Earlier, Dr. Van de Water was Director of the NIEHS funded Center for Children’s Environmental Health at UC Davis, investigating potential environmental risk factors contributing to the incidence and severity of childhood autism. In addition, she is associate director of biological sciences of the M.I.N.D. Institute, and director of the UC Davis M.I.N.D. Institute Intellectual and Developmental Disabilities Research Center. Dr. Van de Water holds both a BS in Biological Sciences, and a PhD in Immunology from the University of California, Davis.
Photo by: Alexandra Hootnick, alexandrahootnick@gmail.com
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