Biomarkers are the key to discovering effective and meaningful treatment
The NR2F1 Foundation issued a grant to Dr Magdalena Laugsch at Heidelberg University to fund bioinformatics analysis and workflow establishment for biomarker discovery in NR2F1 and BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome) using plasma proteomics samples data.
The NR2F1 Foundation has worked tirelessly over the course of the last 2 years to collect biorepository samples (blood and urine) from BBSOAS patients, and their families. Thanks to a partnership with COMBINEDBrain those samples have been turned into data and are now being analyzed to identify potential biomarkers.
A biomarker is a biological molecule or characteristic that indicates a normal or abnormal process, condition, or disease in the body. *Biological markers (biomarkers) are characteristics that can be objectively measured and used as an indicator of normal biological processes, disease processes, or pharmacologic responses to a therapy. Biomarkers are important for the development of drugs, biologics, and certain medical devices.
Over the course of 6 months Dr Laugsch and her team hope to learn more about BBSOAS and we look forward to sharing what we learn.
A big thanks to Dr Laugsch and her team at the Schaaf lab at Heidelberg University for their ongoing partnership and dedication to our mission to support families worldwide wide living with rare NR2F1 gene variants through education, advocacy and research.
*NIH.gov