NR2F1 Foundation and Scientific Advisory Board
The NR2F1 Foundation has grown since it began with 6 moms and a dad of children with BBSOAS, a mutation within the NR2F1 gene, and now has a Scientific Advisory Board that advises and works with the Board of Directors. It has long been the desire and goal of the board and its growing community to be able to raise the funding to support more research and therapies.
On October 7, 2023, the board members and scientific advisors met together for a day and developed a 3-year research roadmap, together with a list of desired initiatives. Research of this caliber is expensive but the foundation determined that funding such ambitious goals was necessary in order to advance the research that is needed.
Three Year Research Roadmap
Goals for the research roadmap:
- Sponsor 3 Postdoctoral researchers to collaborate and work alongside the lead scientists to exclusively research NR2F1 and BBSOAS for 3 years
- A NR2F1 “new investigator” grant to attract junior researchers to research the NR2F1 gene
- Develop a new BBSOAS mouse model
- Discovery of BBSOAS biomarkers
Fundraising for the last two years has been very successful. In 2022, over $130K was raised through the Marathon fundraiser, and fundraisers in 2023 included the Million Dollar bike Ride, a Giving Tuesday campaign, and other creative ways of raising money. Plans are underway for a series of fundraisers throughout 2024 to continue this momentum and focus on funding the research roadmap for the next two years.
Grant awarded to sponsor an Exclusive Postdoctoral Researcher
The board of directors of the NR2F1 Foundation are excited to announce that for the first time ever, they are sponsoring their very own postdoctoral researcher. They have committed to a 3-year sponsorship and awarded the funds to Dr. Schaaf, Professor and Chair of Human Genetics at Heidelberg University and Medical Director of Human Genetics at the University Hospital of Heidelberg, to hire Dr. Elsa Wassmer. Dr. Wassmer will focus exclusively on BBSOAS and the NR2F1 gene and it is the hope that this will be first of many grants the foundation will award to researchers.
Research Dedicated to BBSOAS and NR2F1 Gene
This is the first time a resource will be entirely dedicated to researching BBSOAS. Until now, researchers look at BBSOAS alongside other work, or with time between BBSOAS-related research, based on grant availability. A big thanks to Dr. Schaaf and his team for his ongoing commitment to finding answers and supporting the NR2F1 Foundation in its mission to empower families and individuals living with rare NR2F1 gene variants through education, advocacy, and research.
Dr. Elsa Wassmer
Dr. Wassmer will be collaborating among international labs involved in NR2F1 research – Dr. Studer’s lab at the Institute of Biology, Nice, France, and Dr. Shah’s lab at Cincinnati Children’s Hospital, where he has the BBSOAS Center of Excellence. Her biography includes:
- Completed Bachelors in biology at the Ecole Normale Superieure in Paris in 2015
- Finished her Masters in cancer biology in 2019 and moved to Heidelberg to work on her PhD project at the DKFZ
- Studied the RNA-dependency of the Aurora kinase A protein, and investigated the RNA-binding features of RNA-binding proteins
- Graduated in December 2023
Dr. Wassmer said she is looking forward to starting this new role as postdoctoral and starting to work on NR2F1.
