Cure GABA A Variants

CURE GABA-A | Conference We look forward to seeing everyone at our 2024 CURE GABA-A Conference in LA this year. In collaboration with Slc6a1 Connect Syngap Research Fund - SRF COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental Citizen Health we will host a Rare Research Reception after Day 1 of the conference. 🎵 We are honored to announce a very special addition to the Rare Research Reception! 🎵 The incredibly talented Emma Zander has graciously offered her time and talent to perform at this meaningful event on December 5th, 2024. Emma, known for her ethereal pop sound and soulful storytelling, has captivated audiences worldwide with her music, featured on Netflix and Tiesto’s EDC Vegas set. Now, she’s sharing her artistry to support CURE GABA-A and our mission to fund life-changing research for rare genetic disorders. We are deeply grateful for Emma’s generosity and dedication to making a difference. Her performance promises to be a highlight of the evening, and we can’t wait to share this magical moment with all of you. #CUREGABAA #slc6a1 #syngapresearchfund #RareResearchReception #EmmaZander #MusicForACause #HopeThroughResearch #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP

📣 Exciting News from CURE GABA-A! 📣 We’re thrilled to announce the production of a Micro Documentary Series dedicated to raising awareness and amplifying the stories of our community. 🎬✨ All attendees of the 2024 CURE GABA-A Conference in Los Angeles, California, will have the unique opportunity to be interviewed and share their insights and experiences. This impactful project is being brought to life with the expertise of Renee Kushnir, former producer for CBS, NBC, and E! Entertainment Television, and Albert Buegoff, former director at Warner Bros. 🎥 To register for the conference please click on the link below. Registration will be closed after this weekend! https://lnkd.in/gnZ_2Usu #CUREGABAA #MicroDocumentarySeries #GABAAAwareness #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP

CURE GABA-A | Breakthroughs in Epilepsy Treatment: New Hope for GABAAR Mutations! https://lnkd.in/gWhKjUmk As always, we love to share updates from researchers globally working on GABAARs. A recent review article spotlighting innovative antiseizure medications (ASMs) could change the future of epilepsy treatment. These emerging therapies target GABA-A receptor (GABAAR) mutations, which impact brain inhibitory function and are often linked to drug-resistant epilepsy. Some of the promising medications highlighted include: Darigabat and Alogabat: These selective GABAAR positive allosteric modulators (PAMs), also known as “GABAkines,” are being developed to reduce dependence and tolerance issues seen in traditional treatments. Ganaxolone: A neurosteroid that targets synaptic and extrasynaptic GABAARs, FDA-approved for specific seizure types and offering new hope for treatment-resistant cases. Gaboxadol: An orthosteric agonist that activates GABAARs, showing promise in disorders like Angelman syndrome, which affects GABAergic signaling. These precision-targeted treatments represent a new era of ASMs, moving beyond symptom management to address underlying genetic causes. At CURE GABA-A, we’re dedicated to supporting and accelerating these research efforts, bringing us closer to transformative treatments for our community. Join us in supporting this incredible progress—together, we can make a difference! 💙✨ Join us at our in person conference on December 5-6th in beautiful Los Angeles, California as we discuss the pathway to a cure. https://lnkd.in/gnZ_2Usu #CUREGABAA #EpilepsyResearch #GABAAR #AntiseizureMedications #GeneTherapy #Darigabat #Alogabat #Ganaxolone #Gaboxadol #EpilepsyAwareness #HopeForACure #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP #GABAA #GABAAR

CURE GABA-A | Apparel At CURE GABA-A, we’re on a mission to fund groundbreaking research and advance gene therapy for GABA-A receptor variants (GABAAR). To bring hope and change to families impacted by GABAAR-related disorders, we’re excited to launch our exclusive line of CURE GABA-A apparel! Why Buy CURE GABA-A Apparel? A portion of the proceeds supports critical research funding, helping us bring innovative therapies from the lab to real-life treatments for children and families in need. Funds raised from this apparel go directly into research grants and outreach initiatives, accelerating the journey to a cure. Wear Your Heart on Your Sleeve Our apparel isn’t just a fashion statement; it’s a way to unite the community, spread awareness, and show that you’re part of a powerful movement for change. Wearing your CURE GABA-A apparel proudly shows your commitment to this cause, helping to inspire conversations and bring in new supporters. Help Us Reach Our Goal! We aim to raise $100,000 through this campaign, funding essential studies that could change lives. Every item sold brings us closer to groundbreaking treatments and a brighter future for those living with GABAAR-related disorders. “We work everyday to CURE GABA-A” https://lnkd.in/gf3HuD_4

CURE GABA-A | Bio Collection Opportunity Only two opportunities left to donate blood and bio samples at the remaining roadshows. COMBINEDBrain is hosting a Biorepository Collection on Monday, November 11th at the Kramer Davis Health Center in Nashville, TN from 9am-4pm! If you or someone you know can attend, please let us know so that we can complete the Redcap survey beforehand to consent you in advance. COMBINEDBrain is also starting nasal swab collections for a cross-disorder Unraveled Biosciences project, with no additional cost. Plus, Dr. Willsey’s lab will join us to conduct nitric oxide testing (a non-invasive nasal test) alongside the CB team. Please remember, we need unaffected samples for many of these studies as well. 📅 Date: November 11th 🕘 Time: 9am-4pm 📍 Location: Kramer Davis Health Center - Nashville, 3901 Central Pike, Suite 500, Hermitage, TN 37076 Help us to grow the bio bank and expand GABAAR research! These samples are shared with researchers who create therapeutics for our children. #COMBINEDBrain #Biorepository #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP

CURE GABA-A | Ambassador News One of our Spain Ambassadors, Roberto Gonzalez, a dedicated parent and team member of CURE GABA-A, traveled to attend the first day of the World Orphan Drug Congress in Barcelona. He's actively networking in Europe and seeking opportunities for CURE GABA-A. One key issue experts raised during the conferences was the excessive regulation in Europe, making it difficult to establish uniform protocols across all 27 EU countries. He also wanted to share an exciting update! Next week, we'll begin collecting biosamples from three children through our recommended physician in Santander. He plans to freeze the samples and grow fibroblasts for two weeks before sending them to the COMBINEDBrain Biorepository under CURE GABA-A. This is an amazizing step towards growing our bio bank. #CUREGABAA #WorldOrphanDrugCongress #OrphanDrug #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP COMBINEDBrain

CURE GABA-A | Scientific Community Virtual Monthly Lab Meeting We are so excited to have wrapped up our final Scientific Virtual Monthly Lab Meeting of 2024, which brought together researchers, clinicians, and scientists specializing in GABAAR from around the globe!! The next time we’ll all see one another will be in person at the 2024 Second Annual CURE GABA-A Scientific and Family Conference in Los Angeles, California. This event presents an incredible opportunity to meet the researchers in person, as they will be traveling from Denmark, Australia, Spain, and across the United States to gather for this special occasion. If you haven’t secured your tickets or hotel accommodations yet, you can register here until November 12, 2024. https://lnkd.in/gnZ_2Usu #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP

CURE GABA-A | Medication Survey https://lnkd.in/gVCN7aJG As we approach the 2024 CURE GABA-A Conference, we are excited to announce that Dr. Ortiz’s survey results, conducted by the Denmark team, will be presented by Dr. Rikke Møller. Please click the link or scan the QR code to participate—it’s crucial that we share our medication data to advance toward more effective treatments. This survey will contribute to a publication that will help ensure we receive the medications we need, prescribed by our physicians. “We are working hard on the treatment survey - we will stop the inclusion of patients on the 24th of Oct, and then we need to perform the final data analysis. In summary, we will have a lot to present at the end of this year :o)” - Dr. Rikke Møller #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP

CURE GABA-A | 🚨 Limited Rooms Available for the CURE GABA-A Conference at the OMNI Hotel! 🚨 We’ve secured discounted rooms at $185/night, and with the event being held alongside SLC6A1 and SRF, space is limited! We’re expecting 400 attendees, so don’t wait—rooms are going fast! Booking Deadline: 11/12/2024 (1-night deposit required) Cancel 72hrs+ before arrival to avoid a penalty Perks: Free Wi-Fi, waived Destination Fee, discounted valet parking, and complimentary fitness center/pool access. Book now before it’s too late! 🏨 https://lnkd.in/gnZ_2Usu Slc6a1 Connect Syngap Research Fund - SRF

CURE GABA-A | Gene therapy proposal!! We have some incredible news to share! Since our inception in 2023, CURE GABA-A has been dedicated to developing gene therapies for GABA-A receptor variants (GABAAR). We’ve curated an impressive database of researchers who share our vision: bringing therapeutics from bench to bedside (from the lab to our kids). We’re thrilled to announce that Dr. Henry Lee, MPhil, PhD, Preclinical Scientific Program Manager Research Associate in Neurology at Harvard Medical School, has submitted a proposal through CURE GABA-A to explore gene replacement therapy (GRT) as a groundbreaking treatment for GABAAR-related disorders. If awarded by Uplifting Athletes, this grant will be matched by CURE GABA-A, marking the fourth grant we’ve provided to researchers in the GABAAR space within just one year. We are advancing research by funding it! The study aims to develop and test a novel AAV vector to deliver a functioning copy of the GABRA1 gene in mice. Positive outcomes could lead to new treatment approaches for other GABAAR variants, offering hope like never before. Join us for an in-person conference in Los Angeles, California, at the OMNI hotel on December 5th & 6th, 2024. Registration is now open, and space is limited! Thank you for your continued support! Together, we can make a difference! 💖 CURE GABA-A website https://www.CureGABAa.org Conference Information https://lnkd.in/ghN_Yvvz Fundraising https://lnkd.in/gyn3NaMT YouTube https://lnkd.in/g6629WnX #CUREGABAA #GeneTherapy #PatientAdvocacy #Fundraising #CommunitySupport #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3 #GABRR1 #GABRR2 #GABRR3 #GABRE #GABRD #GABRQ #GABRP