Research
Our research focus
We support high-impact research aimed at identifying and aggressively pursuing molecular, RNA, and genetic-based strategies for treating and curing GRIN2B Disorder.
Research
We support high-impact research aimed at identifying and aggressively pursuing molecular, RNA, and genetic-based strategies for treating and curing GRIN2B Disorder.
Exploring potential new uses for approved drugs, providing the quickest possible transition from bench to bedside
Developing novel therapeutic interventions by influencing and regulating biological pathways
Targeting the genetic root cause of GRIN2B Disorder, aiming to restore proper function through RNA-based therapeutics and/or gene editing
We have adopted a comprehensive research strategy focused on exploring multiple avenues.
The research we fund includes:
Advanced 2D and 3D brain organoid models that allow for the precise testing of drug and gene therapies
Gene-editing using CRISPR technology
Use of advanced techniques such as electrophysiology, 2-photon and digital holography imaging, and high-throughput screening methods to study the physiology and pathophysiology of NMDARs (N-methyl-D-aspartate receptors) and investigate synaptic plasticity
Cutting-edge gene therapy systems using lipid nanoparticles, the same technology used for the Moderna and Pfizer COVID vaccines, to deliver the GRIN2B gene and/or RNA directly to affected neurons
Identification of two extraordinary GRIN2B mutations, leading to an unprecedented reduction in glutamate affinity of the receptors
RNA sequence analysis to identify the individual proteins and molecular pathways affected by GRIN2B pathogenic variants
Exploration of curative strategies including NMDA functionality, protein enhancement, RNA-based therapeutics, and gene replacement
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy
View the publication
Two extreme Loss-of-Function GRIN2B-mutations are detrimental to tri-heteromeric NMDAR-function, but rescued by pregnanolone-sulfate
View the publication
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations
View the publication
The pioneering work done by our network of these dedicated researchers offers new insights and potential avenues for personalized therapies for individuals affected by GRIN2B disorder.
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Shani Stern Laboratory at University of Haifa
Dr. Shani Stern, head of the Precision Disease Modeling Laboratory at the Neurobiology Department of The University of Haifa, is a renowned expert in creating disease models. Her laboratory is a world leader in developing 2D and 3D brain organoid models, enabling testing of drug and gene therapies tailored to each patient's specific condition.In the context of GRIN2B Disorder, Dr. Stern's research focuses on using RNA sequence analysis to identify the individual proteins and molecular pathways affected by GRIN2B pathogenic variants.
One of Dr. Stern's notable contributions is the development of an AI algorithm capable of extracting biomarkers from patients' blood samples. This breakthrough technology enables the identification of optimal drug treatments paving the way for personalized therapies that target different GRIN2B variants.
Dr. Stern and her team are driving advancements in precision medicine and offering new hope for the children affected by GRIN2B Disorder.
Visit the Shani Stern Laboratory at the University of Haifa website
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The Schroeder Laboratory at the Technion —
Israel Institute of Technology
Dr. Avi Schroeder, a tenured Associate Professor of Chemical Engineering at the Technion — Israel Institute of Technology, is at the forefront of research through his leadership of the Laboratory for Targeted Drug Delivery and Personalized Medicine Technologies. With his extensive experience, including postdoctoral studies at the Massachusetts Institute of Technology and a joint PhD from the Hebrew and Ben Gurion Universities, Dr. Schroeder brings a wealth of expertise to his work.
Under Dr. Schroeder's guidance, the research team will employ cutting-edge gene therapy systems using lipid nanoparticles to deliver the GRIN2B gene and/or RNA directly to affected neurons. This innovative approach focuses on correcting the root cause of the disease, offering patients the potential for long-term improvements and an enhanced quality of life.
Dr. Schroeder's groundbreaking research is pushing the boundaries of medical science and paving the way for transformative treatments in the field.
Visit the Schroeder Laboratory at the Technion website
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The Emek Medical Center – Center for Rare Diseases
The Emek Medical Center – Center for Rare Diseases
The Emek Medical Center (EMC) is a renowned institution at the forefront of rare disease research, driving progress through clinical trials for drug treatments and gene therapy. Dr. Ronen Spiegel, an esteemed pediatrician and geneticist, leads the clinical aspects of the research as the head of the EMC Center for Rare Diseases.
Under Dr. Spiegel's guidance, the center conducts clinical studies on both novel and approved drugs and researches , while also exploring the underlying molecular and biological mechanisms of these conditions. His dedication to the field has earned Dr. Spiegel honorary awards for his exceptional commitment to children with rare genetic diseases, including GRIN2B Disorder.
Dr. Tali Garin-Shkolnik, a physician and researcher at the EMC Center for Rare Diseases, fosters collaborations and advances translational research in dermatology and rare diseases. She connects with families, researchers, and physicians in GRIN2B research around the world. Dr. Shkolnik's expertise includes medical innovation, advanced research methods, and genetic therapies, seeking effective treatments and cures.
The dedication and collaborative efforts of Dr. Spiegel and Dr. Shkolnik serve as a beacon of hope for patients and families affected by this condition.
Visit the Emek Medical Center website
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The Berlin Laboratory at the Technion — Israel Institute of Technology
Dr. Shai Berlin leads the Berlin Lab at the Technion — Israel Institute of Technology and specializes in the physiology and pathophysiology of NMDARs (N-methyl-D-aspartate receptors). With a Ph.D. in physiology and pharmacology from Tel Aviv University's Faculty of Medicine and a postdoctoral fellowship at the University of California at Berkeley in Neurosciences, Dr. Berlin has extensive expertise studying NMDARs and developing innovative tools for investigating synaptic plasticity.
Since joining the Technion's Neuroscience Department in 2016, Dr. Berlin has focused on understanding the implications of NMDARs in various diseases. His lab’s research involves advanced techniques such as electrophysiology, 2-photon and digital holography imaging, and high-throughput screening methods.
Dr. Berlin and his team investigate genetic mutations in NMDARs using diverse models, including Xenopus oocytes, cultured neurons, brain slices, and animal models.
Notably, Dr. Berlin's group has made groundbreaking progress in identifying two exceptional GRIN2B mutations that result in an exceptional 1000-2000-fold reduction in glutamate affinity of the receptors. This discovery represents the most severe reduction in affinity ever reported for GRIN2B variants.Dr. Berlin's cutting-edge research techniques and expertise contribute to our expanding understanding of NMDARs and their role in disease, laying the groundwork for potential therapeutic interventions.
Visit the Berlin Laboratory at the Technion website
Simon's Searchlight's mission is to shed light on rare genetic neurodevelopmental disorders by collecting high-quality, standardized natural history data and building strong partnerships between researchers, industry and families. Families like yours are the key to making meaningful progress.
Dr. Gad Vatine of Department of Physiology and Cell Biology is collaborating with 2BCured on IPSC, brain organoids and study the role of the blood-brain-barrier (BBB) in rare diseases.
Sheba Tel HaShomer is the head of the Pediatric Neurology Department at the Sheba Medical Center currently treats GRIN patients and is available to support 2BCured in clinical trials for GRIN2B treatments.
