Dear BBSOAS Families,
I wanted to share the latest developments of our work with you. In the last months, we have been busy in the Schaaf lab to establish at a cell level, the culture of neurons from our BBSOAS mouse models. This is a significant achievement because it allows us to study the differences between normal and mutant neurons in a controlled laboratory setting. The neurons are now growing beautifully! We use them to study the differences between normal and mutant neurons to better understand what the impact of the mutations are, as well as to test the anti-sense oligonucleotides (ASOs) on them.
Neurons are in red, the green are the astrocytes and blur the nucleus of the cells
ASOs are designed to target specific RNA molecules within cells and can potentially modify gene expression. In this context, we are testing to see if they can correct or alleviate the effects of the BBSOAS-related mutations in the neurons.
We will need to run more experiments, but the first results are very promising.
In parallel, the approval to evaluate the ASOs in live mice is on its way and our technician Susanne has been working on the technique to inject them. Our partners at IONIS shared results confirming the ASOs are not toxic and can be used safely in the animals. An important milestone in our research.
We are continuing our work and efforts to bring the ASOs to the clinic as a potential treatment option, and will keep you updated with our next results.
I also had the pleasure this month of attending the GfH (Deutsche Gesellschaft für Humangenetik – the German association for human genetics) conference at Innsbruck, presenting a BBSOAS poster.
Best,
Dr. Elsa Wassmer
Dr Wassmer at GfH conference, presenting a BBSOAS poster (April 2025)
Carlie is the Vice President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.
