SYNGAP1 is a major gene who’s clinical relevance can be as prevalent as the most common single gene mutations like Fragile X, Angelman, Rett and Phlean-McDermid Syndromes.
“Early prevalence data indicate that these mutations (de novo mutations that disrupt SYNGAP1) are unexpectedly common (predicted to be >1 million afflicted individuals world-wide and more prevalent than fragile X syndrome), underscoring the impact that SYNGAP1 has on cognitive development.” (Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses http://www.cell.com/cell/fulltext/S0092-8674(12)01240-8
To serve, educate and fund research for families coping with the effects of SYNGAP mutations.
WHO WE ARE
Bridge the Gap – Syngap ERF began in September of 2014. A group of parents of children living with SYNGAP1 mutations came together to begin a new journey. The common bond is one driven by a desire to raise awareness and search out treatments to improve quality of life for these inspiring individuals.
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IN THE NEWS
SYNGAP1 Family Meet Ups – Our goal is to bring families impacted by SYNGAP1 mutations together. These meetings provide opportunities for new and familiar faces to come together to share experiences, learn from each other and experts in the disease, and offer one another support and hope. Our aim is to empower the patient families with a strong and knowledgeable community of SYNGAP1 advocates. Clinicians and Scientists will be presenting information on current research and be available to answer questions in an open forum.
JUPITER, Fla. – April 29, 2019 – A new study challenges the presumption that people born with developmental brain disorders such as severe autism will benefit from medical interventions only if treated during a narrow window in infancy or early childhood.
Writing in the journal eLife, an open-access scientific journal, the Rumbaugh lab at Scripps Research in Florida reports improvement in measures of seizure and memory in adult mouse models of a genetic cause of autism, called SYNGAP1 disorder.
Children born with only one working copy of the SYNGAP1 gene don’t make enough of the critical SynGAP protein. Two broken copies is lethal. Depending on the extent of their deficit, these children can develop a range of developmental challenges as they mature. This may include intellectual disability, autism-like behaviors, disordered sensory processing, and epileptic seizures that don’t respond to medication. The disorder likely affects one to four individuals per 10,000, similar to the frequency of Fragile X syndrome, says Gavin Rumbaugh, PhD, an associate professor in the Department of Neuroscience at Scripps Research in Florida. However, patients can only be discovered through genetic tests. As a result, only a small fraction of patients with this disorder have been discovered.
To study whether treatment of SYNGAP1 disorder in adulthood could be beneficial, Rumbaugh’s team genetically restored levels of the mice’s SynGAP protein to normal. The treated adult mice showed multiple improvements. It suggests that having one broken copy of the gene not only harms the brain as it develops, but it also has effects in the adult brain, Rumbaugh says. There may be reason to treat at any stage of life once options become available, Rumbaugh adds.
“Our findings in mice suggest that neurodevelopmental disorders’ disease course can be altered in adult patients,” Rumbaugh says. “We can correct brain dysfunction related to seizure as well as memory impairments after restoring SynGAP protein levels in the adult animals.”
Significantly, the paper offers a path to measure the effectiveness of potential medications or other therapies for neurodevelopmental disorders going forward. Electrographic spikes between seizures is an indicator of epilepsy. In their paper, the scientists looked at human EEG data collected from a SYNGAP1 disorder patient registry and found that the appearance of these spikes were much more likely to occur during sleep. Similar findings were observed from mouse models of SYNGAP1 disorder, offering a useful endpoint. Establishment of biomarkers that predict generalized improvements in brain function will be a critical step in advancing treatments for people with severe neurodevelopmental disorders, Rumbaugh says.
The need for a treatment option is clear, Rumbaugh says. Seizures typically become more frequent as children with SYNGAP1 disorders mature, and for many patients, those seizures do not respond to anti-epilepsy drugs.
“Getting to know families affected by this severe disorder has been invaluable, and drives us to develop treatments that will improve the lives of both children and adults,” Rumbaugh says. “It is encouraging that gene therapy techniques that increase pathologically low protein levels for other types of brain disorders are showing promise in the clinic now.”
Additional authors of the study, “Re-expression of SynGAP Protein in Adulthood Improves Translatable Measures of Brain Function and Behavior,” include first author Thomas K. Creson, Camilo Rojas, Thomas Vaissiere, Muratb Kilinc, and Courtney Miller of Scripps Research, Ernie Hwaun and Laura Lee Colgin of the Institute for Neuroscience at the University of Texas at Austin, and J. Lloyd Holder, Jr. and Jianrong Tang of the Baylor College of Medicine.
JUPITER, Fla. (CBS12) — A revolutionary discovery that could help children on the autism spectrum.
Local scientists at Scripps Research in Jupiter found a genetic explanation as to why some children suffer from sensory processing issues.
CBS12 News found out how researchers got to this point.
It all started with a Texas mother who was looking for answers. She started a Facebook group that caught the attention of scientists here at Scripps Research.
“He was my motivation to find help for him because there was nothing out there for him,” Monica Weldon said.
Weldon’s 10-year-old son, Beckett, has a rare mutation in the SYNGAP1 gene, which hinders healthy brain development.
She said one of the most concerning symptoms is his incredibly high pain tolerance.
Weldon showed CBS12 News a video of Beckett letting his puppy bite on his hand until he bled.
“I ended up sending the video to Dr. Gavin Rumbaugh and said tell me what’s going on in his brain if you can of why these kids are not responding to pain,” Weldon said.
Dr. Rumbaugh with Scripps Research in Jupiter figured out what was behind Beckett’s unusual sensory processing issues.
Rumbaugh and his team conducted tests with mice to see how the gene directly affects sensory processing. He said what the discovery could change lives.
“Because we know the way the brain function is disrupted, now we can think about creating drugs that could fix the way that part of the brain functions. And now that we have this, we can go test it in other types of autism to see if this a common mechanism that might be able to help other people,” he said.
Something Weldon keeps hoping for.
“I do believe we are going to find something and this is a mom gut but I know we are going to find something and it’s not just going to help us it’s going to help others,” she said.
Rumbaugh said they are currently developing molecule screening and hope to start screening individuals sometime next year.
Scripps Research Institute researches genetic link for some children’s autism symptoms
JUPITER, Fla. – Groundbreaking research out of the Scripps Research Institute in Jupiter found a genetic explanation for the pain processing and sensory issues some children living with autism face.
“To see the biology in the lab turn out that has parallels to what’s going on in these children takes it so far beyond just an academic endeavor,” said Dr. Gavin Rumbaugh, a neuroscientist at Scripps. “You go home every day thinking, unbelievably, I may actually be making a difference in someone’s life.”
One of those children who Rumbaugh hopes to help with his research is 10-year-old Beckett, who lives in Texas.
“We wanted to understand generally in the lab how genes like SYNGAP1 affect the way the brain functions and we thought what better way was then to look and see how this gene may directly affect sensory processing and then further on ask the question does the change in sensory processing actually lead directly to learning, memory and behavioral impairment,” he said.
Beckett has a genetic mutation of SYNGAP1, which researchers have now found causes certain issues he faces, particularly, having an extremely high pain threshold, while also experiencing heightened sensitivity to another kind of stimuli. Beckett and other children living with this genetic mutation also often have epilepsy.
“It’s all about quality of life. Everybody deserves to live their best life and that’s my mission,” said Monica Weldon, Beckett’s mom.
Weldon said the research being done in Jupiter could change her son’s life and the lives of hundreds of other children around the world whose families she’s connected with online with the same genetic abnormality and symptoms.
“That is the power I believe of a patient group that is motivated to find treatments for their loved ones,” Weldon said. “Also, you’ve got scientists who are listening. They’re willing to listen and they’re willing to learn.”
The next step in Rumbaugh’s research is to look at treating the symptoms from the genetic mutation.
The Golf Club at Cinco Ranch
April 2, 2020
*Registration 10:30 am
*Putting Contest 11:00 am
*Shotgun Start 1:00 pm
*Lunch 12:00 pm
*Dinner 5:00 pm
*Silent Auction 4:30-6:00 pm
*Team (4) $650
*Team (4) w/Hole $775
Entry Fee Includes:
Driving Range, Carts & Green Fees,
Breakfast, Lunch, Door Prizes,
Award Ceremony, Gift Bags, Beer,
Soda, and Water on Course
We are hosting our Fourth Annual SYNGAP1 Golf Classic and Silent Auction to be held on Thursday, April 2, 2020, at The Golf Club at Cinco Ranch, 23030 Cinco Ranch Blvd. Katy, TX 77450 at 1:00 pm Shotgun Start. In previous years we have had a great turn out and successful event. We hope that you can help this year’s events also be a huge success.
Your generous contribution will be used for life-changing programs that will benefit children with rare diseases. Our international outreach for SYNGAP1 children gathers critical information, which is needed to drive research towards more immediate therapeutic solutions.
We invite You to join us as a sponsor for this event by choosing from one of our “Sponsorship Opportunity Levels” ($200- $7,500) and/or supporting us through donations of various prizes and silent auction items.
By being a sponsor you will be promoting your company to a group of people who are very loyal to its sponsors, as well as to the many professionals who will be participating at the golf tournament itself. Companies like yours make available the resources that enrich our education and research programs and we are forever grateful.
We are anticipating a highly successful and well-attended Golf Classic Tournament. Show Bridge the Gap – SYNGAP Education and Research Foundation’s friends, neighbors, and colleagues your company’s commitment to finding better treatments and therapies for our children suffering from the debilitating effects of SYNGAP1 mutations.
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