We welcome new investigators! If you’re interested in researching BBSOAS and the NR2F1 gene, reach out to Jennifer.Coughlin@nr2f1.org (NR2F1 Foundation President) or Sarah@combinedbrain.org (Scientific Officer).
Biorepository samples
We have a significant biorepository of patient samples linked to phenotypic data available in our Patient Registry.
To request samples, contact COMBINEDBrain.
Grants
The NR2F1 Foundation provides grants to institutions and researchers. If you would like to discuss a grant project related to BBSOAS syndrome and the NR2F1 gene, please contact: Jennifer.Coughlin@nr2f1.org and Melissa.Thelen@nr2f1.org.
The NR2F1 Foundation applies a facilities and administration rate of 14% for eligible grants.
Patient Registry records
We have a robust Natural History Study with caregiver standardized surveys and electronic health records. EEGs will also be available soon.
To discuss Patient Registry, reach out to Jennifer.Coughlin@nr2f1.org or Sarah@combinedbrain.org.
Mice models
We have a number of NR2F1 mice models
If you’re interested in NR2F1 mice or cell models, contact Sarah Poliquin at COMBINEDBrain sarah@combinedbrain.org.
In vivo models
Model | Where | Type | Genetics |
|---|---|---|---|
Mouse | Michele Studer, France Christian Schaaf, Germany | NR2F1-/- NR2F1+/- NR2F1+/- NR2F1+/- NR2F1+/- | Hom deletion Het deletion R142L - DBD E400X - LBD Q241X - LBD (pending) |
Mouse | Ke Tang, Guangzhou | NR2F1+/- | R112K - DBD |
Mouse | Michele Studer, France | NR2F1 Emx1-Cre NR2F1 Glast-Cre | Cortex and hippocampus-specific cKO Adult NSC/progenitor-specific cKO |
Mouse | Ming-Jer Tsai, Baylor | NR2F1 Rx-Cre NR2F1 Nr2f2 Rx-Cre | Eye-specific cKO Eye-specific cKO |
In vitro models
Model | Where | Type | Genetics |
|---|---|---|---|
iPSCs | Michele Studer, France | NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 -/- | p.His97Tyr - DBD p.Arg123Leu - DBD p.Gln244X - LBD p.Lys323Serfs*73 - LBD p.Gly395Ala - LBD p.Glu400X - LBD Heterozygous KO Homozygous KO |
hESCs | Ke Tang, Guangzhou | NR2F1 +/- | R112K - DBD |
ARPE-19 cells | Ming-Jer Tsai, Baylor | NR2F1 +/+ | Transient siRNA KD |
T-HEp3 and D-HEp3 cells | Julio Aguirre-Ghiso, Albert Einstein Med Center | NR2F1 -/- | CRISPR KO |
Fibroblasts | Christian Schaaf, Germany | NR2F1 +/- | c.2T>C; p.? Truncation at initiation site |
iPSCs | Christian Schaaf, Germany | NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 +/- NR2F1 +/- | p.His97Pro - DBD p.Cys86Arg - DBD p.Ile130Ser - DBD Gene deletion Gene deletion Gene deletion |
In vitro cell models
Model | Where | Type | Genetics |
|---|---|---|---|
Organoid | Michele Studer, France | NR2F1 +/- | c.2T>C; p.? Truncation at initiation site p.Glu39X p.Tyr98His - DBD p.Arg142His - DBD p.Gln244X - LBD p.Lys323Serfs*73 - LBD |