FOXG1 Research is a special team of the BLACKSWAN Foundation that supports research on FOXG1 syndrome. In collaboration with the BLACKSWAN Foundation, the FOXG1 Research team works to raise funds and establish a network of researchers who work synergistically to identify innovative therapeutic strategies for FOXG1 syndrome.
FOXG1 Syndrome is a neurological disorder caused by a mutation in the FOXG1 gene, similar to RETT Syndrome. Previously called Brain Factor 1, FOXG1 is one of the first and most essential genes formed during human development. FOXG1 builds the Cerebrum – which controls cognition. Affected patients in most cases, cannot sit, walk, talk and eat without a feeding tube. 87% are epileptic and pharma-resistant.
Research shows FOXG1 plays a role in Autism, Schizophrenia, Brain Cancer and Epilepsy. A cure for FOXG1 will not just help over 300 (known cases) but will help solve brain disorders that impact millions of people.
The FOXG1 research team under the BLACKSWAN Foundation’s mission is to:
1. Correcting FOXG1 loss-of-function in post-natal animals. Identification of the etiology of FOXG1 syndrome and the targets for drug discovery.
PI: Dr Soo-Kyung Lee – Oregon Health and Sciences University (Portland, USA).
Budget: USD 150’887
2. FOXG1 as target for Autism. Gene targets of FOXG1 in human brain progenitors.
PI: Dr Flora Vaccarino – Yale University (New Haven, USA)
Budget: USD 130,641
3. RNA Gene Therapies for FOXG1 missense mutations. Developing an integrated platform for scalable, etiopathogenic-clinical profiling of subtle FOXG1 mutations and experimental, RNA-drive rescue of their histopathogenic effects
PI: Dr Roberta Cilio – UCSF (USA) and Dr Antonello Mallamaci at SISSA (Trieste, Italy)
Budget: USD 125’000
4. RNA gene therapy to correct FOXG1 symptoms in iPS cells. Assessing the therapeutic potential of small activating RNAs in a patient-derived cellular model of FOXG1 syndrome
PI: Dr Angus Clarke – Cardiff University (Cardiff, UK)
Budget: USD 85,665
5. FOXG1 gene therapy using CRiSPR/Cas9 technology and AAV9 system in iPSCs-derived neurons
PI: Dr. Alessandra Renieri – University of Siena (Siena, Italy)
Budget: USD 185’000
6. Establishing and characterizing eight mouse model lines enabling researchers and biotechnology companies to trial therapies for FOXG1 Syndrome (FS)
PI: Dr. Jae Lee, Oregon Health And Sciences University (OHSU) (Portland, USA).
Budget: USD 175’000
More information about the project here.