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 biomarker discovery in NR2F1 and BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome) using plasma proteomics samples data. Bioinformatics analysis plays a crucial role in accelerating drug discovery by leveraging computational tools to analyze vast biological datasets.
Read our previous blog post here.
Biomarkers are measurable characteristics, such as proteins or genes, found in blood, urine, tissue, or other body fluids that reflect biological processes or disease states. Although not yet widely used for children care with neurodevelopmental disorders, blood-based biomarkers offer strong potential to improve diagnosis and treatment monitoring, as blood sampling is easy and minimally invasive.
Dr. Magdalena Laugsch and her team at the Institute of Human Genetics, Heidelberg University, Germany, have made an important step in biomarker discovery for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). Utilizing blood samples collected through the COMBINEDBrain consortium, they conducted a comprehensive analysis. In total, 13 promising candidate biomarkers were identified, many of which are associated with brain function. Although these findings require further validation, this research represents an important step toward developing reliable, minimally invasive tools to better understand, diagnose, and manage BBSOAS.
A big thanks to Dr Laugsch, Dr Michael Eibl and the whole 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.
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.
