Dear BBSOAS Families
I have now been working for a year and a half in Prof. Schaaf’s group on Nr2f1 and BBSOAS, and I am happy to report to you the progress we made during this time. Thanks to our two medical students, Johann Maaß and Dominik Kamionek, we now know more precisely what phenotype our three BBSOAS mouse models harbour, and the data has been published (https://doi.org/10.1242/dmm.052426). Dominik is currently finishing his work on the visual deficiencies of the mice, and found some results correlating with what can be observed in patients ERGs. From now on, these phenotypes can be used as outcome measures to test potential therapies. We are also in the process of sharing the mouse lines through the EMMA (European Mouse Mutant Archive), where they will be accessible for other research groups.
Regarding therapy testing, we have gotten approval to test oligonucleotides in our DBD-mutant model. Our technician, Susanne, has already performed several injections into mouse embryos, and the complete experiment is likely to be achieved this year, with the help of Johann.
The work also continues in the lab to better understand the effect of the different Nr2f1 mutations. Giovanni Merolla, our PhD student, will perform some RNA-sequencing experiments in the next weeks in the hope to better grasp the molecular mechanisms underlying BBSOAS. On my side, I am still working on establishing in vitro models to test potential therapies, and testing ASOs on neurons from our mutant mice. I am also now starting a new project aiming at identifying proteins bound by Nr2f1 normal and mutant proteins. This will hopefully also give us more insight on how Nr2f1 works and what impact the different mutations have in the context of BBSAOS. I will also have the privilege to present our newest results to you during the conference held in Orlando in April. I am looking forward to it.
Best regards,
Dr. Elsa Wassmer Nr2f1 foundation post-doc