Dr. Magdalena Laugsch, genetic researcher
Dr. Magdalena Laugsch, of the Heidelberg Institute for Human Genetics, is a researcher in the field of genetics. She obtained her Ph.D. degree at the Institute of Pharmacology and Toxicology (University of Magdeburg). In Prof. Schaaf’s lab (2019), she got the great opportunity to study neurodevelopmental disorders related to the neural crest (Institute of Human Genetics, Heidelberg). In 2020, Magdalena became a group leader. Since then, she is expanding her research in this area.
Dr. Magdalena Laugsch has been working on the NR2F1 gene and BBSOAS since 2019. She shares the following.
We humans have built pyramids, constructed high performance computers, landed on the moon, developed world-class technologies that continue to move us forward, but we still know little about the pathophysiology of many diseases. This also applies to the role of NR2F1 in neuronal development in health and BBSOAS.
Therefore, one of the goals of my research group and me (AG Laugsch, Institute of Human Genetics at the University of Heidelberg) is to deepen our knowledge of NR2F1 using human cell models (hiPSC) and gene scissors (CRISPR/Cas9). We also include hiPSC from individuals with BBSOAS, the generation of which was supported by the NR2F1 Foundation in 2019. We differentiate these hiPSC into neurons and other cell types to recapitulate early human development and elucidate the pathophysiology of BBSOAS by comparing cells with normal and aberrant NR2F1 function.
Utilizing state-of-the-art techniques from various disciplines (cell biology, epigenomics, advanced bioinformatics, network biology), we will provide a multifaceted picture of NR2F1 function in health and BBSOAS that may lead to improvements in the diagnosis and therapy of this condition, as well as other neurodevelopmental disorders. To fulfill our mission, we are currently working on three complementary NR2F1 projects:
(i) Exploring the regulatory elements on the DNA that influence NR2F1 expression. We explore whether mutations in these regulatory elements can alter the tissue-specific (in different cell types) presence of NR2F1, even if the NR2F1 gene is not mutated. Our current results suggest that this is the case, and our ongoing studies will show whether these elements should be included in the diagnosis of BBSOAS (PhD project, Ayat Ahmed).
(ii) Identifying genes controlled by NR2F1 (regulatory networks). Using advanced bioinformatic analyses, we are currently determining the regulatory network that is orchestrated by NR2F1. Based on these results, we will decipher the heterogeneous manifestations of BBSOAS resulting from different NR2F1 mutations or deletions. We will then investigate whether mutations in these regulatory networks may contribute to BBSOAS and other neurodevelopmental disorders (Master thesis, Michael Eibl).
(iii) Developing new cellular model systems. To date, we have successfully employed two-dimensional (2D) cell culture, a robust and commonly used research model. However, this planar cell culture system does not reflect the architecture of tissues and organs. Hence, to further empower our BBSOAS modeling strategies, we are developing novel and powerful cellular systems of 3D cell cultures (organoids) that more closely reflect the cell diversity and 3D tissue architecture of otherwise inaccessible human organs (Technician Susanne Theiß and Master student Maren Gehringer).
Overall, since 2020 more than a dozen students have worked in my research group on these NR2F1 and BBSOAS projects and have contributed significantly to their progress. Many more are sure to follow. However, to ensure optimal success, we rely on the exchange of information between scientists, doctors, and patients (or their families), as well as financial support from various institutions. We are therefore delighted to be in close contact with the NR2F1 Foundation.
NR2F1 Foundation awards a grant
The NR2F1 Foundation is proud to award a grant to Dr. Laugsch, to enable her to attend the European Human Genetics Conference in Berlin, Germany, in June 2024, to share and receive feedback on her team’s NR2F1 research and work.
A huge thanks from all the BBSOAS community to Dr. Magdalena and her team, from the NR2F1 Foundation and BBSOAS families.
Dr. Magdalena (front) and team
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.
