FRAXA’s primary mission is to speed up progress towards effective treatments and ultimately a cure for Fragile X syndrome. As “bottlenecks” are identified we will try to facilitate solutions and add resources for university and pharma researchers worldwide, so please contact us for additional scientific resource requests.
Contact Michael Tranfaglia with any questions, comments or concerns via email at firstname.lastname@example.org or call (978) 462-1866.
The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective testing of potential new Fragile X treatments.
Pharmaceutical companies developing medicines for brain disorders like Alzheimers, epilepsy, or depression sometimes find evidence suggesting that their compounds could treat Fragile X. We can arrange to send promising compounds to FRAXA-DVI for further study. This resource is also a next step for testing new leads from university-based research projects.
Since 2011, Patricia Cogram, PhD, and Dr. Robert M. J. Deacon, PhD, of the University of Oxford, have worked at the University of Chile to validate new pharmaceutical leads for the treatment of Fragile X. Dr. Cogram maintains colonies of Fragile X mice and fruit flies, conducts standardized tests on lead therapeutic compounds, and compares their effects in the animals to previously tested drugs.
FRAXA-DVI offers a rapid and cost-effective alternative to in-house studies. FRAXA-DVI’s cutting-edge technology with high-content screening and multiplexed animal models are oriented to fast screening of compounds with high reproducibility for de-risking and accelerating drug development in Fragile X syndrome. FRAXA-DVI works in collaboration with Sarah Lippe, Montreal, Canada (EEG); Peter Vanderklish, Scripps Institute, USA (OMICs); and Julie Lauterborn, UCI, USA (electrophysiology). FRAXA-DVI works with Dr. Paulina Carulo from the FLENI Institute, Argentina, in the search for clinical biomarkers and candidate compounds in pilot clinical trials in Fragile X.
FRAXA-DVI allows us to partner with pharmaceutical companies to test their compounds in Fragile X. It has generated new leads and has led to clinical trials in Fragile X. For more information please contact Michael Tranfaglia, MD at FRAXA.
FMR1 Knockout Rats
This model contains a deletion of the Fragile X mental retardation 1 gene (fmr1). Mutations in fmr1 result in Fragile X syndrome, the leading monogenic cause of autism, making this rat useful for the study of both Fragile X syndrome and autism.
Human Stem Cells
The National Human Neural Stem Cell Resource (SCR) provides to the research community neural stem cells harvested from the post-natal, post-mortem, human brain. Dr. Philip Schwartz directs this resource at the Children’s Hospital of Orange County (CHOC) Research Institute.
Human cortical neural stem cells that carry the Fragile X mutation are available for distribution to interested researchers. These cells are grown as neurospheres and are mainly neural progenitor cells. They can be differentiated into neurons and astrocytes that lack FMRP with long-term culturing. For more information about these cells please refer to Svendsen et al., J Neuroscience Methods 85:141-163 (1998), and contact Dr. Anita Bhattacharyya at the University of Wisconsin-Madison Waisman Center.