Dr. Juncal Fernandez-Orth

Dr. Juncal Fernandez-Orth is a molecular biologist in the Department of Paediatrics and Adolescent Medicine at the University of Ulm. She studied Biology and completed a Master’s in Molecular Biology and Biomedicine at the University of the Basque Country in Spain. Her PhD, conducted under Dr. Álvaro Villarroel at the Biophysics Unit (University of the Basque Country and Spanish Research Council), focused on the regulation of ion channels at the plasma membrane and their connection to neurological disease.

Following her PhD, she joined the University Clinic of Münster as a postdoctoral researcher with Prof. Sven Meuth, studying neurodegenerative and autoimmune diseases such as multiple sclerosis. In 2020, she moved to the University Clinic of Freiburg to work with Prof. Miriam Erlacher, an expert in cell death regulation in haematopoiesis and haematological disorders. During this time, Juncal was awarded the DFG research grant (own position) and the Medical Scientist Grant from the University Clinic of Freiburg in 2023 to investigate Gata2 haploinsufficiency, a condition associated with immunodeficiency and a high risk of childhood myeloid neoplasms. Her recent publication (Fernandez-Orth et al., 2025, Blood Advances) provides novel insights into this complex condition.

Her current research focuses on how additional somatic mutations in other genes may influence disease expression in Gata2 haploinsufficiency. While some somatic events may cooperate with Gata2 haploinsufficiency to promote malignant transformation, others might act protectively—potentially explaining why some individuals remain asymptomatic. The goal of her project is to identify both disease-promoting and disease-protective somatic alterations, which could serve as prognostic markers or even therapeutic targets to prevent leukemia development.

Since September 2024, she has continued this work at the University of Ulm, again in collaboration with Prof. Erlacher, and is supported by the Medical Scientific Programme Grant from the University of Ulm, awarded in 2025. Her research contributes to a broader translational effort focused on genetic predispositions to haematological malignancies and rare paediatric blood disorders.