In the News
October 25th, 2022
SETBP1 SOCIETY JOINS RARE-X TO INCREASE VISIBILITY IN RESEARCH COMMUNITY
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.
March 1st, 2022
TWO NEW SETBP1 RESEARCH PROJECTS FUNDED RESEARCH PROJECTS THROUGH 2021 MILLION DOLLAR BIKE RIDE GRANTS
SETBP1 Society’s participation in the 2021 Million Dollar Bike Ride generates $91,466 in funding for SETBP1 research. With this recent grant, SETBP1 Society is able to realize their 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.
December 15th, 2021
CLARIFICATION OF SETBP1 HAPLOINSUFFICIENCY DISORDER (SETBP1-HD) GIVES RISE TO RESEARCH DEVELOPMENTS
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.
November 2nd, 2021
SETBP1 haploinsufficiency disorder considered a strong candidate as a speech and language disorder
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.”
September 22nd, 2021
Patient community led collaborative study with Tarleton State University initiated to identify needs and provide resources for the SETBP1 community
“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
May 28th, 2021
Episode 33 – SETBP1 Society-CoRDS Cast
On this episode of CoRDS Cast, Alyssa sits down with Haley Oyler and Lindsey Noonan to discuss the rare conditions their sons have, SETBP1.
Haley is the president and founder for the SETBP1 Society which brings awareness to this condition and unites families and researchers. While working with the SETBP1 Society, Haley also has a son with this condition and was diagnosed about 5 years ago with little information out there. Her hard work has paved the way for families to find a diagnosis at a young age.
Lindsay has a son with SETBP1 and was diagnosed at 7 months. Due to being diagnoses at such a young age, they were able to start early working on some of the issues that go along with this condition. Because of people like Haley, Lindsey’s son was one of the youngest children diagnosed with SETBP1.
This year on June 12th, 2021 the SETBP1 Society will participate in the Virtual Million Dollar Bike Ride. This annual festival brings together rare disease families, friends and supporters to raise funds for rare disease research and to spread awareness of rare disease. For more information please visit: https://www.setbp1.org/mdbr/
May 6th, 2021
Research Team Seeks to Understand if SETBP1 Gene Correction at Different Stages of Life can Positively Impact Those Living with SETBP1 Related Disorders
“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.
April 6th, 2021
COLEMAN SHY: SETBP1 WON’T SET ME APART!
His last name may be Shy, but there’s certainly nothing bashful about 6-year old Coleman Shy. In fact, his dad Matt says that Coleman smiles and laughs more than anyone he’s ever met, and it’s because of this 43-year-old single father of two, and his amazing support group, that Coleman is zipping down the hill on a bi-ski at the Keystone Adaptive Center (KAC), part of the Breckenridge Outdoor Education Center (BOEC) Adaptive Ski & Snowboard Program.
April 1st, 2021
Understanding the challenges in executive function for those with SETBP1 Disorder
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.
Read More View Dr Brumback’s presentation
February 26th, 2021
Giving Tuesday Donations to support SETBP1 Research at Baylor College of Medicine and Texas Children’s Hospital
On December 1, 2020, people from all over the world came together to virtually support and donate to beloved non-profit organizations. The SETBP1 Society received over 400 donations resulting in nearly $50,000 in funds raised, making this their largest Giving Tuesday fundraiser to date. These contributions have created an opportunity for SETBP1 Society to advance a preclinical research initiative with Dr. Rodney Samaco, assistant professor of molecular and human genetics, and team at the Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital.
December 16th, 2020
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
“Our findings contribute to further characterizing the associated phenotypes and suggest inclusion of SETBP1 in the list of prioritized genes for the genetic diagnosis of overlapping phenotypes ranging from non-specific neurodevelopmental disorders to “developmental and epileptic encephalopathy” (DEE).”
November 23rd, 2020
THE JACKSON LABORATORY CREATES TWO MODELS FOR SETBP1 RESEARCH
“Ultimately, I think the models that we’ve generated are going to be really useful in getting a good handle on what SETBP1 does. The conditional knockout model is going to be a great way to evaluate not only the importance of SETBP1 in the brain, but how it works in different parts of the brain,”
October 5th, 2020
Non-profit for SETBP1 Disorder Exceeds Fundraising Goal during COVID-19
“While the world continues to be hindered by the hurdle of #COVID-19, our dedication to our #SETBP1 Community and our fight to find treatment for this #raredisease has not slowed! In partnership with University of Pennsylvania Orphan Disease Center, the SETBP1 society was able to exceed our fundraising goal for the 2020 Million Dollar Bike Ride!”
August 8th, 2020
SETBP1 Society President Interview with COMBINEDBrain
“After the getting the diagnosis (in 2016), it was affirming because we knew something was up…but on the other hand, it was scary. There was no support group. I wasn’t finding anyone actively studying SETBP1. We weren’t getting anywhere. After all this time, I didn’t really know how to help…What can we do to help change this? So the next month, we looked into non-profits. With friends and family support, we formed SETBP1 Society (in 2017).”
Simons Searchlight Family Story – Mia’s Story
By: Miriam, Parent of Mia, a 7 year old with a SETBP1 genetic change
…“Take a deep breath, there are many different abilities in this group too, this is a stepping stone of understanding right now, a path to follow, a journey to embark on.”…
What motivates you to participate in research? I would like to make it easier for other families to not only have access to genetic testing but also to information and understanding of what these genetic changes mean to you and your family. That has been a difficulty challenge for us. Having answers but not having any idea what the answers mean really or even where to go from that point.
What have you learned about your child’s condition from other families? That there are gradients of non-verbal and that it is a work in progress….
Global Genes Rare Leader Series, March 9, 2019
Rare Leader: Haley Oyler, President, SETBP1 Society
…How did you become involved in rare disease: In early 2016, when my oldest son was diagnosed with SETBP1 disorder, the genetic condition did not have a name. No researchers were actively researching the condition and no organizations were dedicated to SETBP1. There were only a few documented cases of the condition. The catalyst for forming SETBP1 Society came from a conversation my husband and I had after we enrolled our son in the University of Washington TIGER study. After the study, we asked the residing clinical psychologist Jennifer Gerdts and genetic counselor to help us help our son. We asked them about the most effective way to bring change to the current state of awareness and understanding for my son’s condition. Their response was to form a non-profit foundation dedicated to the rare disease. They had seen this approach help several of the other rare monogenetic conditions studied by the Simons Foundation. A couple of weeks later, the decision was made to form SETBP1 Society…
What makes you hopeful: The landscape is changing for the rare disease community. There are treatments like gene therapy that are now approved for specific retinal eye diseases, as well as specific skin, blood, and prostate cancers. There are clinical trials for various forms of muscular dystrophy and clinical trials about to launch for neurodevelopmental disorders including Rhett Syndrome. There are many more pharmaceutical companies motivated to develop or repurpose drugs for the rare disease community and researchers are more open to collaboration than in the past. I think more and more researchers are seeing rare disease organizations as potential partners to help advance their research….
Austin Statesman Newspaper March 3, 2018 by Ken Herman
Ride Charlie’s Carousel, and take a spin for Cole
…DNA changes that lead to a decreased amount of SETPB1 protein are associated with SETBP1 disorder, a rare disorder, with only 40 cases known worldwide, that can cause a variety of symptoms, including developmental delays, autistic traits and seizures.
And Charlie Ford has a carousel at his Northwest Austin house.
Stay tuned for linkage of the above facts.
Austinite Cole Oyler turned 7 on Jan. 18, the day we posted my column about the fact that the now-closed Kiddie Acres carousel — which Ford purchased, dismantled, moved and remantled (I’m a professional. I get to make up words) — was up and running at Ford’s house.
Give me a minute and I’ll tie this all together in a way that should make you feel good about something nice Ford is doing Saturday with his carousel. It involves people with SETBP1 disorder, including young Cole (of whom there are photographs indicating he should be in the Head of Hair Hall of Fame)…
Unique Magazine Winter Newsletter 2017
Uncovering a New Genetic Disorder
Cracking that contagious grin and crinkling his bespectacled eyes, Cole dumps a bin of toy cars onto the floor.
…Cole has not developed at the same rate or with the same ease as other children. The clues emerged throughout infancy, toddlerhood, and early childhood, leaving a breadcrumb trail that led his parents, Haley and Eric Oyler, to several rounds of genetic testing and visits with various specialists. The long sought answer, however, led to more questions. Cole has a deletion in the SET binding protein 1 (SETBP1) gene, which impacts his neurological system.
…Unfortunately, beyond the scope of its impact and its location, we know little else about the function and purpose of the gene or the protein it produces. One barrier to progress in understanding this rare neurodevelopmental single gene disorder, is its scarcity; there are fewer than 40 known cases world wide.