STXBP1 Foundation 2019 Review
We want to share with you all we accomplished in 2019, as well as thank you for the role you played in helping make this a successful year for the STXBP1 community. This year, the Foundation’s second year as a non-profit, was our biggest and busiest year yet and we look forward to 2020 being even more so!
June: On June 21-22, the STXBP1 Foundation and the Center for Cellular and Molecular Therapeutics (CCMT) hosted their 1st STXBP1 Investigators and Family Meeting (SIFM) in Philadelphia. The conference theme was “Science + Love = Cure” because it is the foundation’s belief that the relationships formed between researchers and families will improve the quality of research and ultimately, lead to a cure. This weekend brought over 200 patients, family members, and researchers together in one place to discuss current research, encourage collaboration between STXBP1 researchers, and decide as a community where we wanted to invest research dollars.
September: This year, the community chose September as STXBP1 Awareness Month. This is also the month we hold our annual STXBP1 5K in Marietta, Ohio. The 5K turned virtual last year to include our STXBP1 families and supporters who couldn’t make it to the 5K in person. This year, we decided on the theme, “Move to Cure STXBP1”. Throughout the world, from Germany to Canada to all over the United States, people moved by walking, running, swimming, and biking toward a cure for STXBP1. The final amount raised was $18,469.
November: Foundation president, Charlene Son Rigby, spoke at Disorder: The Rare Disease Film Festival the second weekend of November. She shared her family’s personal story as well as the Foundation’s. On Thanksgiving Day, the Foundation announced awarding it’s first-ever research funding grant of $75,000 to the University of Pennsylvania, Perelman School of Medicine. Principal Investigator Ben Prosser, who is also a fellow STXBP1 parent, will continue progress on a promising genetic therapy approach that targets microRNAs, or miRNA, which are emerging as a new type of therapy that allows targeting of specific genes. His original research was focused on cardiac disease, but when his daughter was diagnosed, the passion and love that many of our parents share motivated him to switch some of his research focus to the brain. Prosser’s lab is pursuing a miRNA-based strategy to increase STXBP1 protein in neurons. STXBP1 is critical for neurotransmitter release, and patients with STXBP1 disorders do not produce enough.
December: December 3rd was Giving Tuesday and the community came together to raise funds through a number of Facebook campaigns, fundraising close to $20,000 for research. Two board members, as well as parent Jackie Steinberg, represented the Foundation at AES this year in Baltimore the weekend of December 6th-8th. While there, they met Ganna Balagura with the University of Genoa, who was awarded a blue ribbon for her research on SINEUPs, a novel therapeutic strategy for STXBP1 encephalopathy based on non-coding RNA. Ganna was also a speaker in the "Hot Topics from Young Investigators in the Epilepsy Community" session. This month, the Foundation’s president, Charlene Son Rigby, was also recognized as a Rare Leader by Global Genes for her work in building strong research relationships to accelerate therapies and a cure for STXBP1 and ultimately, her daughter.
To stay tuned to what the Foundation has planned for 2020, follow us on our Facebook group, STXBP1 Disorders, or visit our new, updated website at stxbp1disorders.org. We always welcome community involvement. If you would like to join the Foundation in leading the charge for a cure or have a skill you would like to share that would help us continue toward our goals, click on the volunteer link on our website. As a community, we ended 2019 full of hope, inspired to keep moving forward, and driven to find a cure. We are so thankful for each of you and the part you played in making our 2019 incredible!
