2/26/25, Kelsey Bennett

In October 2024, nearly 100 clinicians, researchers, families, and supporters gathered in Austin, TX, for the first-ever SETBP1-HD conference, organized by the SETBP1 Society. This groundbreaking event aimed to deepen understanding of SETBP1 haploinsufficiency disorder (SETBP1-HD), facilitate on-site research, and explore future possibilities for individuals affected by this rare disorder. Inspired by a 2022 Simons Searchlight conference that united four rare disease groups, SETBP1 Society’s President, Haley Oyler, recognized the value in bringing SETBP1 families together for a focused gathering.

“There is nothing like being in the same room with fellow parents who get you and understand your journey. The experience was even more powerful with the opportunity to share it with researchers to help them deepen their understanding of how SETBP1-HD and related disorders impact our children. With the guidance of Simons Searchlight, SETBP1 Society was confident and prepared to host our first-ever SETBP1 conference.” said Oyler.

The event, held at the Cambria Hotel Uptown in Austin, was made possible by generous sponsorships from the Simons Foundation, Floyd Family, Elleco Construction, UltraGenyx, and Imprint. It provided an emotional and educational experience, allowing families to connect with researchers and share insights about living with SETBP1-HD, while learning about the latest advancements in the field.

Understanding SETBP1-HD

SETBP1-HD is a rare genetic disorder caused by a loss-of-function mutation in the SETBP1 gene, which is essential for normal brain function. Those affected typically have speech delays, developmental and intellectual disabilities, motor delays, autism traits/autism, ADHD, and other challenges such as seizures, feeding issues, anxiety, and sleep disturbances. SETBP1-HD is often the result of spontaneous (de novo) mutations, meaning there is no family history of the disorder.

Collaboration Among Experts

The conference began with a research-focused day where global experts shared their findings on SETBP1 research, including cellular models, mouse and zebrafish models, and enzyme replacement therapy. Researchers from institutions such as Vita-Salute San Raffaele University, Radboud University, and University of Texas presented on topics ranging from SETBP1 protein modeling to EEG biomarker studies, creating collaborative opportunities for future research.

Linda Bossini, a researcher at Vita-Salute San Raffaele University, emphasized the value of understanding clinical perspectives: “Gaining insights into the clinical aspects was incredibly valuable, helping us align our research with the needs and challenges faced in clinical practice.”

A Day for Families

The second day of the conference focused on the families and their experiences. Presentations included updates from the Simons Searchlight SETBP1 registry, with Dr. Cora Taylor sharing key data, and insights from Dr. Bregje van Bon on the SETBP1 Clinic in the Netherlands. Researchers also presented their progress on behavior assessments, animal models, cognitive evaluations, and EEG studies, with 12 patients participating in EEG screenings by the B-RAD team and onsite blood draws by Searchlight. These presentations were framed by updates on the SETBP1 Society’s progress, highlighting achievements from the past year and milestones that have been achieved since its founding in 2017.

A major focus of the conference was promoting independence for individuals with SETBP1-HD. A panel discussion featured advocates and experts like Steve Friedman, a parent, advocate, and author, alongside his independent daughter, Gwendolyn Friedman, special needs finance expert Barbara Bush and Monica Gelinas, founder of CC4C. They offered families valuable resources for fostering independence and supporting their loved ones.

Emotional Connections and Support

The conference also provided dedicated spaces for parents and grandparents to share their experiences. These breakout sessions focused on the unique joys and challenges of raising children with SETBP1-HD, with many discussions centered on educational support and school settings.

The day ended on a high note with a dance party, where families, researchers, and children celebrated the success of the conference. “The dance was pure joy. Watching all of the children just having a blast brought joy to my heart,” said Sonya Dearman, a grandmother of a SETBP1 “bee.”

Rare Disease Day

As Rare Disease Day approaches on February 28, 2025, the conference serves as a reminder of the importance of community, collaboration, and research in advancing care for those affected by rare disorders like SETBP1-HD. The SETBP1 Society’s first conference exemplifies how shared experiences and collective efforts can create a brighter future for individuals living with rare diseases, empowering them to live more independent and fulfilling lives.

To support SETBP1 research and families, visit https://givebutter.com/DonateSETBP1 or learn more at https://www.setbp1.org/.

Read the press release online

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Austin, TX — October 25, 2022 – In partnership with RARE-X, SETBP1 Society is expanding its efforts in natural history studies to expedite research by creating a readily available pool of data on SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorder. Ownership of this natural history data and data access control is retained by the families of those diagnosed.

Historically, data collection had been done primarily in institutions like MIT and Harvard to be used exclusively for their own research. This created insurmountable barriers to access the data due to the institution regulations and, in some cases, their findings were not published. As a result of these limitations, the burden had then been placed on the families of those diagnosed to continually collect and provide data for potential studies themselves.

RARE-X is a non-profit organization that enables patient communities to collect their data globally and connects it to researchers, clinicians and drug developers via their open-access platform. Researchers worldwide can query the data not only by disease or genetics but also by symptom. By making this de-identified longitudinal data readily accessible to the research community, RARE-X is solving many of the early challenges of natural history studies. Additionally, RARE-X creates the opportunity for researchers and drug developers to uncover diseases they’ve never heard of which may qualify for their existing or upcoming studies. The goal of this partnership is to inform and enable research partners by providing structured data for future clinical trials, as well as, to reduce the time it takes to study potential treatments and make them available to our community.

“RARE-X is honored to support the SETBP1 community’s critical work. The RARE-X goal is to make it easier for the SETBP1 community to collect patient data and for researchers to find that data,” said RARE-X CEO Charlene Son Rigby. “Our approach supports what many stakeholders in rare disease research have requested – research-grade, research-ready, patient-reported, real-world evidence that is consented by patients to be shared.”

This partnership has fueled a feeling of hope and excitement with the SETBP1-HD community. Erin Otness had sought out answers for nearly a decade before her son, John, had been formally diagnosed with SETBP1-HD. “​​Data is power. For ultra-rare disorders such as SETBP1-HD, having a scaffold to collect information which will be available to researchers and scientists worldwide is exciting,” Erin said. “ If our participation in RARE-X attracts the interest of a scientist who eventually makes a therapeutic breakthrough, it will absolutely be worth it.”

For more information about the SETBP1 Society: https://www.setbp1.org

Learn more about our partnership with RARE-X: https://rare-x.org/

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org

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Austin, TX — April 24, 2022 In an effort to leverage resources and take advantage of synergies, the patient advocacy groups IDefine, Koolen-de Vries Syndrome Foundation, and SETBP1 Society are teaming up to offer a webinar series called It Takes a Village on the first Saturday of the month.

It Takes a Village will be a program full of useful, interesting, and fun events for families, caregivers and children diagnosed with the three rare genetic disorders. Program topics will be driven by what families want. Potential programs will likely include musical therapy, sensory processing, and individualized education programs (IEP).

“As a volunteer-based non-profit supporting an ultra-rare community, we find that our resources, understanding of the disorder, and funding remain limited,” said Haley Oyler, president of SETBP1 Society. “We direct a high percentage of our collected funds towards research to better understand the impact of SETBP1-HD, the impacted pathways, and to bring us closer to finding targeted treatments. This results in our organization functioning on a tight budget with a small team. By partnering with other rare disorder groups, we combine forces and expand the size of the team working on the shared projects.”

Although the programs are held live, the goal is to create a shared library of interactive educational content that each organization can offer on its website.

“The KdVS community is filled with an amazing open-network of families,” said Ashley Fortney Point, Koolen-de Vries Syndrome Foundation president. “We are just waiting for the team of researchers to find therapeutics to improve the lives of all individuals living with KdVS. Through this partnership, we can pull from each community’s knowledge-base to learn more and grow together. When one of us progresses, we all win!”

For more information about the SETBP1 Society: https://www.setbp1.org

Learn more about IDefine: https://www.idefine.org/

Learn more about Koolen-de Vries Syndrome Foundation: https://kdvsfoundation.org/

Check out Upcoming It Takes a Village webinars: https://setbp1.org/events/

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Austin, TX — April 19, 2022 – Creating animal models is a monumental milestone in any genetic research effort as it mimics a disease in a repeatable, observable manner. These models allow researchers to test, observe, modify and repeat trials on cells, tissues and organisms until a desired outcome is met. Ultimately, providing insights into potential therapeutic interventions in the future, as well as the benefits and concerns that may be presented as a result.

SETBP1 Society has partnered with The Rare Diseases: Models and Mechanisms Network (RDMM) to fund a 1 year, $25,000 grant to understand why decreased SETBP1 function leads to SETBP1 haploinsufficiency disorder (SETBP1-HD). The grant has since been awarded to Dr. Maria Aristizabal and her co-investigator, Dr. Alex Little, of Queen’s University in Kingston, located in Ontario, Canada. Using state-of-the-art genetic engineering methods, they will be creating a Danio rerio (zebrafish) model to introduce genetic mutations commonly observed in SETBP1-HD patients.

Due to their fast breeding and ability to produce large amounts of offspring, zebrafish are a great candidate for high-throughput gene-editing research. Favorably, they carry a gene that is similar to the human SETBP1 gene and remain transparent during embryogenesis and early development. This allows researchers visual access to the environment in which different tissues are developing.

In speaking with Dr. Aristizabal, she shared her passion for understanding how DNA is packaged as well as how gene expression is regulated. When asked why she was drawn to SETBP1-HD research she said, “We know that cells employ a variety of mechanisms to regulate these processes but how this is done remains unknown…this work has potential to identify biomarkers and therapeutic targets for SETBP1-HD”. Dr. Little, co-investigator on this project, shares a similar perspective, “Understanding how this pathway functions will provide insight into whether developmental phenotypes remain plastic enough to be reversed, potentially with therapeutics, later in life.” The zebrafish are expected to be available and initially characterized in Q1 of 2023.

For more information about the SETBP1 Society: https://www.setbp1.org

Learn more about Dr. Maria Aristizabal: https://biology.queensu.ca/people/department/professors/maria-aristizabal/

Learn more about Dr. Alex Little: https://biology.queensu.ca/people/department/professors/alexander-little/

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org

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Austin, TX — March 1, 2022 – In June of 2021, Team SETBP1Strong participated in the Million Dollar Bike Ride (MDBR) hosted by the Penn Medicine Orphan Disease Center (ODC). MDBR brings together over 750 cyclists and volunteers to ride virtually or physically on Penn’s campus to raise funds for rare disease research. Noting that 100% of the funds raised go toward the awarded pilot grants, with no overhead taken out. The ODC secures philanthropic donations that are used to match, dollar for dollar, the funds raised by the cyclist teams.

For the 3rd year in a row, SETBP1 Society’s application qualified for participation in the MDBR and received grant funding from the ODC for SETBP1-focused research. SETBP1 haploinsufficiency disorder or SETBP1-HD, is a very rare genetic neurodevelopmental disorder caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene. The one copy of the SETBP1 gene does not produce a sufficient amount of SETBP1 protein for the body to function normally. SETBP1-HD is characterized by moderate to severe speech impairment which can present as Childhood Apraxia of Speech (CAS), motor developmental delay, a wide range of intellectual functioning (from normal IQ to severe ID), hypotonia, and behavior challenges which can be due to attention issues and/or autistic traits/autism spectrum disorder (ASD) .

When SETBP1 Society was created, the mission was to create visibility into the ultra-rare world of SETBP1-HD for diagnosed families but also to promote global discussion and fund research. With this recent grant, SETBP1 Society is able to realize this mission by splitting the 2021 MDBR SETBP1 grant funds evenly among two worthy researchers, Dr. Vanessa Fear, a senior researcher at the Telethon Institute for Kids in Perth, Australia, and Dr. Jerome Baudry, a molecular biophysicist and professor at the University of Alabama, Huntsville. Both will be actively working to provide the tools necessary to uncover potential targets for therapeutics in the future.

Dr. Fear’s study will utilize CRISPR gene editing and neuronal disease modeling to identify SETBP1-HD disease-specific molecular pathways, facilitate understanding of disease mechanisms, and identify potential cellular targets for treatment. In addition, SETBP1 variants of uncertain significance (VUS) will be assessed as disease pathogenic or benign. With a growing number of individuals in the SETBP1-HD community with VUS, Dr. Fear’s work will look to identify if some of these VUS variants cause SETBP1-HD or another SETBP1-related disorder.

For the first time in the history of SETBP1 genetic research, Dr. Baudry and his doctoral student, Maher Mansur, have used supercomputers to create a 3D model of the gene structure. In his recent interview with the University of Alabama in Huntsville, Dr. Baudry shared the significance of this work, “It is very important because it is the starting point of virtually every modern drug discovery campaign.” Their work will allow software to analyze how different molecules would work as drugs to treat SETBP1-related diseases.

For more information about the SETBP1 Society: https://www.setbp1.org

Learn more about Dr. Vanessa Fear: https://www.telethonkids.org.au/contact-us/our-people/f/vanessa-fear/

Learn more about Dr. Jerome Baudry: https://www.uah.edu/science/departments/biology/people/faculty-staff/jerome-baudry

Read recent UAH Press Release announcing Dr. Baudry’s grant: https://www.uah.edu/news/items/grant-helps-baudry-lab-research-protein-s-interactions-in-so-called-orphan-diseases

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org

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Austin, TX — December 15, 2021 – Many SETBP1-HD families have waited years for a diagnosis and/or have been misdiagnosed due to the lack of awareness by clinicians around the disorder. Over the last 4 years, SETBP1 Society has directly funded research through various fundraising events such as the participation in the UPenn Million Dollar Bike Ride, GivingTuesday, and the Carousel of Possible Dreams. As a result of these fundraising efforts, SETBP1-HD has become more clearly defined leading to greater awareness of the research and making the information much more accessible to clinicians worldwide.

This progress did not happen overnight. In 2019, SETBP1 Society funded a $25,000 grant for one year to researchers Dr. Bregje van Bon and Professor Simon Fisher, with the intent to uncover molecular mechanisms and neuronal pathways involved in SETBP1 haploinsufficiency disorder using human cell-culture models. Dr. van Bon’s time spent meeting directly with SETBP1-HD families has allowed her to collect skin fibroblast samples from individuals with SETBP1-HD. These samples have continued to fuel the ability for Professor Fisher and his lab to examine human cell-culture models.

With this collaborative data, Dr. van Bon contributed significant insights to a joint research paper, Clinical delineation of SETBP1 haploinsufficiency disorder, that was published in 2021. SETBP1 Society was then able to develop a SETBP1-HD Resource Guide to make the data presented in this recent publication more accessible to SETBP1 families. The SETBP1-HD Resource Guide is available in English and French.

“It is great to see that several years later we have been able to really delineate this disorder. This publication makes it possible for any clinician to find clear information regarding this disorder. Up until this publication there was no overview about this disorder, which made it hard for non-genetically specialized clinicians to extract the useful information from existing medical literature.” said Dr. van Bon.

Most recently, the NIH Gene Review for SETBP1 haploinsufficiency disorder (SETBP1-HD) was just released earlier this month. This will serve as a guideline for medical professionals around the world to quickly research and understand SETBP1-HD allowing them to promptly guide recently diagnosed SETBP1-HD patients to meaningful care.

For more information about the SETBP1 Society: https://www.setbp1.org

View the full “Clinical delineation of SETBP1 haploinsufficiency disorder” publication here.

Learn more about Dr. van Bon: https://www.setbp1.org/videos/?loadVideo=vanBon

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org

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Austin, TX — November 2, 2021 – Childhood Apraxia of Speech (CAS) is a motor speech disorder that makes it difficult for children to speak and may occur as a result of a genetic change. In fact, 1 in 3 children have a genetic reason for their CAS. In January of 2020, Professor Angela Morgan and her team at the Murdoch Children’s Research Institute (MCRI) opened up a study to better understand CAS for those impacted by a SETBP1 variant and further explore the genetic link to CAS.

The goal of this study was to better understand the speech and language abilities of those impacted by a SETBP1 loss-of-function mutation, which causes SETBP1 haploinsuffficiency disorder (SETBP1-HD), and as a result, be able to improve prognosis, better identify those in need of speech therapy and be able to develop more targeted speech therapies for those impacted. The research consisted of families with children diagnosed with SETBP1-HD, who opted-in and completed a number of clinical surveys. Professor Morgan’s team then conducted a 1-hour video conference with the candidate and their caregivers, wherever possible, to both observe and gather additional context for that family’s experience. The team then analyzed and delivered their findings directly back to the family in an effort to improve that child’s communication hurdles.

This study has since been closed and resulted in the publication, Speech and language deficits are central to SETBP1 haploinsufficiency disorder. This paper directly recommends that SETBP1-HD be recognized as commonly causing a speech and language disorder and those diagnosed should be enrolled in speech therapy as early as their first year of life. Professor Morgan has just launched a new 3 year study to track the speech and language skills of individuals with SETBP1-HD. When asked how Professor Morgan sees her studies impacting the future of SETBP1 research she shared, “When new therapies, such as drugs, are developed, they are first tested in clinical trials. This study will develop speech outcome measures for use in clinical trials, to test how effective new therapies may be for improving speech. Meaning that when new therapies are developed, the SETBP1 community is prepared when it comes to testing their efficacy and moving the field forward.”

Haley Oyler, serving as President of SETBP1 Society but also a mother of a child living with SETBP1-HD, shared in her recent blog post, “Our hope is that publications like this one make it easier for our families to access the therapies they need including targeted speech and language therapy and for insurance to cover the therapy, which can be a challenge our families face.”

For more information about the SETBP1 Society: https://www.setbp1.org

View the full “Speech and language deficits are central to SETBP1 haploinsufficiency disorder” publication here.

Learn more about Professor Morgan: https://www.mcri.edu.au/users/prof-angela-morgan

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org

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Austin, TX — September 20, 2021 — The Department of Psychological Sciences at Tarleton State University (TSU) and the SETBP1 Society have launched a patient community collaboration study called the SETBP1 Community Research Study (SCoReS). This partnership was created to identify the needs of caregivers within the SETBP1 community and efficiently provide targeted resources to address them.

As a community-based participatory research (CBPR) study, SCoReS will gather input from families who have experienced the unique challenges of SETBP1 haploinsufficiency disorder and will then summarize findings to provide a starting point for isolating family needs as well as guiding the next phase of the study. The long-term goal of the study is to provide a library of accessible information to the caregivers but also to educators, medical professionals, and researchers, guiding their efforts to positively impact the future of care for those living with SETBP1 haploinsufficiency and related disorders.

Haley Oyler, president and founder of SETBP1 Society and Trina Geye, assistant professor at Tarleton State University and board member for SETBP1 Society are both actively involved in the SETBP1 community and are co-principal investigators for the study.

“The ability to clearly identify needs in the community will benefit them directly by providing resources but an indirect benefit will be giving the SETBP1 community a voice in the future direction of research”, said Trina Geye. The findings of the first phase of the SCoReS study are expected to be finalized by the end of 2021 with phase two beginning in 2022.

“This research project is uniquely positioned to directly help the community because their input and participation are driving the direction of the study with the intention of growing it for several years. As a parent of a child with a rare neurodevelopmental disorder, specifically SETBP1 haploinsufficiency disorder, I understand how difficult it is to know how to best help my child based on his unique challenges. The hope for this study is to provide families, like ours, meaningful guides and resources to better help caregivers provide for and guide our children with SETBP1 haploinsufficiency disorder and related-disorders.” said Haley Oyler.

About SETBP Society: SETBP1 Society is an internationally focused volunteer 501(c)(3) organization based in the US with a mission to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public.

For more information about the SETBP1 Society: https://www.setbp1.org

Additional information about the SETBP1 Community Research Study: https://www.setbp1.org/scores/

For more information, press only:

Kelsey Bennett
402-619-8695
info@setbp1.org

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The SETBP1 gene is active in many different tissues in the body presenting critical proof that the SETBP1 protein is highly integrated into human life and function.

Austin, TX — May 6, 2021 — SETBP1 disorder is the result of a variation or a microdeletion in chromosome 18, exclusively impacting one copy of the SETBP1 gene and resulting in the body producing too little SETBP1 protein to function normally. SETBP1 disorder is a neurodevelopmental disorder causing a range of symptoms including speech delay, autistic traits/autism, low IQ to severe intellectual disability, ADHD, developmental delay and seizures.

As recipients of the 2020 Million Dollar Bike Ride (MDBR) SETBP1 disorder grant, given by the University of Pennsylvania Orphan Disease Center (ODC), Rocco Piazza and Luca Mologni of the University of Milano-Bicocca and Alessandro Sessa of the San Raffaele Scientific Institute in Milan, Italy will work to better understand if SETBP1 loss-of-function mutations are detrimental during early brain development. Seeking to understand that if there is a correction in the SETBP1 levels, would the effort be sufficient enough to revert the symptoms associated with SETBP1 disorder? The SETBP1Strong MDBR team and SETBP1 Society are pleased to see their funds are supporting this ground-breaking research. “We could not be happier with supporting Dr. Piazza’s research team in the development of a SETBP1 reversible mouse model! We will not know whether targeting the SETBP1 gene directly will work as an effective treatment target for individuals with SETBP1 disorder until Dr. Piazza’s team addresses these questions.” shared Haley Oyler, President of SETBP1 Society.

Dr. Piazza and his team are familiar with the exploration of SETBP1 mutations as his studies stretch back to 2012. “We started our journey by studying the mechanisms responsible for the onset of myeloid leukemias but, as unpredictable as science often is, it brought us in the uncharted area of SETBP1 mediated disorders,” said Dr. Piazza. It was these early efforts and exposure to the gene that continues to fuel the team’s interest in learning more about SETBP1. They will use a reversible knockout mouse model to modulate the expression of SETBP1, paying close attention to the effectiveness of the restoration of SETBP1 levels at well-defined time-points. From conception to birth and throughout life, there is differentiation in SETBP1 expression levels in various body tissues, including the brain, in which the impact is not well-characterized or understood. “We’d like to understand if we were able to knockout the gene and then reactivate it, at a certain point in life, would we then decrease the severity of the symptoms that come with the disease,” stated Alessandro Sessa.

“Dr Piazza, Dr Sessa, and Dr Mologni’s research is cultivated with the patient in the forefront. Their aim is to understand if reversing SETBP1 mutations through gene editing will diminish or eliminate ID, ASD, or speech symptoms and is a crucial step on our united path to identify a treatment,” said Haley Oyler.

About SETBP Society: SETBP1 Society is an internationally focused volunteer 501(c)(3) organization based in the US with a mission to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public.

For more information, press only:

Kelsey Bennett
402-619-8695
info@setbp1.org

For more information about the SETBP1 Society: https://www.setbp1.org

For more information about Dr. Piazza:
http://www.dimet.org/team-view/rocco-giovanni-piazza/

For more information about Dr. Sessa:
https://research.hsr.it/en/divisions/neuroscience/stem-cells-and-neurogenesis/alessandro-sessa.html

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Dr. Audrey Brumback, a physician scientist at Dell Medical School at The University of Texas at Austin, sets out to better understand if prefrontal cortex neurons may be a target to help executive function challenges for those living with SETBP1 disorder.

Austin, TX — April 1, 2021 — In December of 2020, Dr. Audrey Brumback was awarded a grant as a result of SETBP1 Society’s participation in the annual Million Dollar Bike Ride, hosted by the University of Pennsylvania and Orphan Disease Center (ODC). As a result of this grant, Dr. Brumback will host SETBP1 mouse models in her lab to evaluate the neurons in the prefrontal cortex that transmit information from the cortex to the thalamus.

It is in these neurons that she has found the greatest impact to executive function for those with neurodevelopmental disorders. Executive functions are the cognitive skills required to achieve a goal such as focusing attention, filtering out distractions, controlling impulses, prioritizing tasks and to set and achieve the goal. “In my work with three different mouse models of autism, we found that these corticothalamic neurons needed for executive function and social cognition were not working properly. When we adjusted the activity, we saw that it increased the time mice spent engaged in social exploration.” said Dr. Brumback, member of the College of Natural Sciences and assistant professor in the Departments of Neurology and Pediatrics at Dell Medical School at The University of Texas Austin. “It is our goal to map out brain circuits to identify which symptoms of executive dysfunction tie to specific populations of neurons. From there, we seek to understand if we can generalize this to other disorders or if this is peculiar to just this one.”

It is uncommon for a therapeutic treatment to be developed for only one rare disease. Oftentimes, rare disease research requires the findings to address commonalities across several disorders for further development of a treatment. The SETBP1 community is hopeful that with Dr. Brumback’s knowledge and exposure to many neurodevelopmental disorders, that there may be an opportunity to find a therapy with beneficial effects across multiple diseases. “One of my biggest hopes is that we will find a pathway or target that impacts several disorders including SETBP1 disorder,” shared Haley Oyler, President of SETBP1 Society. “Dr. Brumback’s research is unique in that she is looking to see if changing brain circuitry can be a treatment for neurodevelopmental disorders in the future and I find that area of novel research fascinating. She is a pioneer in this area of research. Her research in mice has the possibility of one day leading to a treatment to help individuals with neurodevelopmental disorders.”

While her ultimate goal is to be able to guide the development of a therapy, via non-invasive neuromodulation, she knows her impact in neurodevelopmental disorders goes beyond the four walls of her lab. “More than anything, as a scientist, whether basic or clinical, we want to help people and make that personal connection. That’s what inspires us to ask more questions – the right questions – to work to address the real life issues that people are experiencing.”

About SETBP Society: SETBP1 Society is an internationally focused volunteer 501(c)(3) organization based in the US with a mission to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public.

For more information, press only:

Kelsey Bennett
402-619-8695
info@setbp1.org

For more information about the SETBP1 Society: https://www.setbp1.org

For more information about Dr Audrey Brumback:
http://sites.utexas.edu/brumback-lab/team/audrey-brumback/

Learn more about Dr Brumback’s lab:
https://www.brumbacklab.com/

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