Carlie Monnier

There is power in numbers — every new diagnosis matters. For the first time since the Foundation launched (2018) we have a patient count! Over the past few months, we’ve...

This month we are profiling BBSOAStrong, 9-year-old Andrew, from Scotland, UK.  Mum, Karen, shares her story of living life with her incredible son. Can you start by introducing yourself and...

  We are delighted to announce the formation of a new Research Advisory Council.  The council will provide expert guidance and strategic insight to help steer the foundation’s research priorities...

Tri4Albert – UK 6th July 2025 “Supporting the NR2F1 foundation is so important because without it we would feel so alone in our fight for answers and treatments” - Sean,...

Have your child’s genetic sample used in research - 2025 dates and locations are now confirmed Over the past 2 years we have partnered with COMBINEDBrain to collect BBSOAS bio...

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...

BBSOAS and Bioinformatics Analysis Discovery Update In October 2024 the NR2F1 Foundation issued a grant to Dr Magdalena Laugsch at Heidelberg University to fund bioinformatics analysis and workflow establishment for...

Meet our student volunteer – Abigayle Nafus  Where are you currently at Graduate School and what are you studying?   Kean University's Genetic Counseling Graduate Program   What motivated you to volunteer...

Inspire Change: Host Your Own Fundraiser for the NR2F1 Foundation  Looking for a meaningful way to support the NR2F1 Foundation and make a difference in the lives of families affected...

A Sibling’s Perspective on Rare Disease  Brian Read joined the NR2F1 Foundation in early 2024, after applying to an advert on LinkedIn for a new Treasurer.  While Brian isn’t a...