Scientific Advisory Board
Guided by a diverse group of basic and translational scientists, our Scientific Advisory Board steers our research from fundamental discovery to transformative application. Their collective expertise - spanning molecular mechanisms, preclinical models, and real-world translation - accelerates the path from idea to impact. With rigorous oversight and bold scientific vision, the Board helps us translate promise into measurable benefit for patients.
Our SAB Members
Dr. Nico Wahl
Institute for Neuroscience, Georg Dechant lab, Medical University of Innsbruck, Austria
My background is in molecular biology with a focus on next generation sequencing approaches. We study the underlying mechanisms of neuropsychiatric disorders by investigating how genes are regulated in the cortex. The aim of our research is to understand the pathways involved in consolidating cognitive functions. We have recently shown that SATB2 organizes the genome in the brain specifically at genic regions important for cognition.
Dr. Galina Apostolova
Institute for Neuroscience, Medical University of Innsbruck, Austria
My background is in molecular neuroscience. My research contributes to expanding and improving our understanding of the pathogenesis of neuropsychiatric and neurodevelopmental disorders. My research objective is to enable the interpretation of the neurobiological impact of genetic risk loci by making use of functional genomic approaches and experimental validation in relevant in vivo or in vitro model systems.
My current research work is focused on elucidating the molecular functions of SATB2 in the brain.
Dr. Roman Jerala
Head of the Department of Synthetic Biology and Immunology at the National Institute of Chemistry in Ljubljana, Slovenia
The Center for the Technologies of Gene and Cell Therapies, Slovenia
The focus of my current research is on the development of new biomedical technologies and the translation of biomedical discoveries for advanced therapies.
Dr. Andrew G. Newman
Institute of Cell Biology and Neurobiology, Charité – Universitätsmedizin Berlin, Germany
Our lab focuses on studying the genetic basis of cerebral cortex development.
We are interested in identifying genes whose disruption causes brain malformation and investigating molecular functions of proteins encoded by such genes.
Tyler Mark Pierson, MD-PhD
Pediatric Neurogenetics, Cedars-Sinai, USA
I am a physician-scientist with more than 20 years of clinical and basic science research experience focusing on rare neurogenetic disorders. My goals are to help families with these disorders in the clinic as well as studying the disorders in my laboratory.
My interest in SATB2-associated syndrome is a result of my work with NuRDopathies and their relationship to SATB2 function and expression. We study these disorders with patient-derived IPSCs and Forebrain Cerebral Organoids. In parallel to this work, we also study mouse models of these disorders. Our hope is to find overlapping molecular, cellular, and gene expression patterns in these very similar and related disorders.
D.V.M, Dr. Shinya Yamamoto
Department of Molecular and Human Genetics, Baylor College of Medicine, USA
Our lab studies many rare and undiagnosed diseases using the fruit fly (Drosophila melanogaster) in collaboration with clinicians around the world. We function as part of the Model Organisms Screening Center of the Undiagnosed Diseases Network, an NIH-funded large clinical consortium. We also serve as the Drosophila Core of the Center for Precision Medicine Modeling at Baylor College of Medicine, an initiative to support clinical research using the power of genetic model organisms.
We started to work on SATB2 because we were highly inspired by parents of a SAS patient who carried a novel variant in this gene. We recently established an in vivo assay in flies to classify SAS variants into different functional classes, which we believe will have a broad clinical and translational impact.
Dr. Joery den Hoed
Amsterdam, the Netherlands
I am a molecular biologist and during the time I was involved in academic research, I investigated rare genetic variants in the SATB1 and SATB2 genes using high-throughput human cell-based assays to assess their pathogenicity and functional impact. This work sparked my interest in the genetic disorders associated with these genes. My broader scientific interest lies in understanding how specific genetic variants can disrupt biological processes differently and how such insights can contribute to establishing genotype–phenotype correlations. I am currently working in research and development in a biomedical company in the Netherlands, where I focus on developing technologies for the detection of genetic variants in the context of newborn screening.
Dr. Claudia Fuchs
Drug Repurposing Projects Senior Manager Academy of Sciences, Italy
I am responsible for the support of EURORDIS’ involvement in projects comprising activities related to medicines research and development, access to therapies, and patient engagement in the medicine life cycle.
In particular, I coordinate EURORDIS’ contribution to the Horizon Europe-funded project REMEDi4ALL, which aims at building a sustainable drug repurposing platform in Europe with an approach of co-creation amongst researchers, clinicians and patients.
Prior to joining EURORDIS, I worked for more than 10 years as a Biomedical Researcher in the rare disease field. I hold an MSc in Human Physiology and Genetics and a PhD in Neuroscience. My research was mainly focused on rare neurodevelopmental disorders.
Dr. Dunja Urbančič
University of Ljubljana, Faculty of Pharmacy; EATRIS Slovenia
I am a pharmacist with a background in molecular and cell biology. My work focuses on pharmacogenomics, advanced imaging techniques, and drug screening and I study the effects of compounds on neurodevelopmental disorders. I also lead educational activities in the areas of cell and gene therapy development and personalized medicine. Currently, I am working on establishing in vitro models for drug repurposing in SATB2-associated syndrome.