COMPLETED STUDIES
1. “Characterization of the GABRB2-Associated Neurodevelopmental Disorders” https://pubmed.ncbi.nlm.nih.gov/33325057/
2. “Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy” https://pubmed.ncbi.nlm.nih.gov/32686847/
3. “GABAA Receptor Variants in Epilepsy” https://exonpublications.com/index.php/exon/article/view/epilepsy-gaba-receptor/913
USE OF FUNDS
1. Developed two sets of iPSCs (induced pluripotent stem cells), which are complete and are being used for current research projects, and available for other future projects. These cells can be reprogrammed into neurons from individual patients for testing and research. Please contact us for more information if you are a researcher. Currently, we coordinating a third set of iPSCs to be developed, as well as biobanking to store and distribute the samples. Estimated project cost, $20,000.
2. Paid (undisclosed) for participation in Rarebase “Function” platform project, phase one.
ADDITIONAL FUNDING NEEDS
1. $10,000 per patient to expand our biobank of stem cell lines.
2. Rarebase Function platform, phase two.
CURRENT PROJECTS INVOLVING GABRB2
1. Proteostasis maintenance of GABAA receptors (Dr. Tingwei Mu, Case Western Reserve University https://sites.google.com/view/mu-lab/home)
2. Genotype-phenotype characterization of GABAAR-related epilepsies: translating genetic diagnostics into personalized treatment (Alessandra Rossi, MD, and Rikke Steensbjerre Møller, Professor, PhD, Department of Epilepsy Genetics and Personalized Medicine. Danish Epilepsy Centre Filadelfia, Dianalund, Denmark. https://epi-care.eu/collaborative-genetic-research/)
3. Function platform (Rarebase)
4. iPSC generation and storage of various GABRB2 genetic variants (CURE GABRB2)