The 10th Annual Million Dollar Bike Ride (MDBR) will take place in Philadelphia, Pennsylvania on Saturday, June 10, 2023. The NR2F1 Foundation will take part as an independent fundraising team in this fundraiser for rare disease research, which is being sponsored by the Penn Medicine Orphan Disease Center. This specifies that all funds received by the foundation, after paying a fee to participate, will be used at their discretion.
Million Dollar Bike Ride
Starting in the city, more than 750 cyclists and volunteers will take part in a 13, 34, or 72-mile ride in the Greater Philadelphia area. In the past nine years, more than 30 teams have raised well over $15 million to support funding for the diseases they represent in research. All donations made are guaranteed to go totally toward these pilot studies, with no overhead withheld by the Penn Medicine Orphan Disease Center (ODC), which was founded to support the creation of treatments across a wide spectrum of orphan diseases.
Highlights from the 2017 Million Dollar Bike Ride can be seen here.
Together with her husband Eric and other members of the NR2F1 Team, Jennifer Nicholl, one of the co-founders of the NR2F1 Foundation and the foundation secretary, will take part in the MDBR to generate funds for the nonprofit organization. Maggie, Jen, and Eric's 11-year-old daughter were diagnosed with BBSOAS (Bosch-Boonstra-Schaaf Optic Atrophy Syndrome) at the age of three.
After three years of missed developmental milestones, numerous doctor appointments and evaluations, and eventually a thorough genetic test that would give it a name, Maggie was diagnosed. Maggie's life is impacted by BBSOAS in a variety of ways. As parents and members of the NR2F1 Foundation, Jen and Eric Nicholl wish to change the fact that there are currently no cures or treatments available beyond therapy to manage symptoms.
NR2F1 Foundation
Nearly eight years ago, Jen met and started talking with four other mothers of children with BBSOAS, one of whom was Carlier Monnier, the current president of the foundation. There were no support groups or even a lot of resources for information about the disorder at the time. At a conference in 2018, several parents got together and decided to create the Foundation.
Developmental delay, intellectual disability, and visual impairment are the most frequent symptoms of BBSOAS, a neurodevelopmental disorder brought on by a mutation in the NR2F1 gene. Only a few hundred BBSOAS instances are currently known worldwide.
Rare diseases are limited in medical knowledge, expertise, and research. The NR2F1 Foundation (501c3 approved), a parent-patient-led nonprofit organization, is committed to empowering families and individuals with rare NR2F1 mutations through advocacy, education, and research. The NR2F1 Foundation collaborates with those who are researching this condition.
How can you help?
The NR2F1 Foundation requesting your assistance in these efforts. With your help, the NR2F1 Foundation will receive 100% of the funds raised. The strategies and roadmap that were developed during the strategic planning session in January 2023 can be seen on the website.
Remember that your employers might provide matching opportunities. You can get assistance with this via the donation tool.
On behalf of Maggie and all those living with BBSOAS, thank you in advance for your support.
