NR2F1 Foundation Scientific Advisory Board

Christian Schaaf MD, PhD

Professor and Chair of Human Genetics at Heidelberg University, and Medical Director of Human Genetics at the University Hospital of Heidelberg | Visiting Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine

Christian is a physician scientist who wants to understand how genes influence human cognition and behavior. His laboratory at the University of Heidelberg is dedicated to investigating the genetic basis of neurodevelopmental and neuropsychiatric disorders. Christian’s focus is on translational research. All of his research projects relate to patients he has encountered in clinic. Christian is a solver of medical mysteries. By treating each patient with respect and curiosity, he has not only made a real difference in the affected individuals’ lives, but also made seminal discoveries in the field of neuropsychiatric disease research. He reported the first six individuals with NR2F1 mutations in 2013, and has since contributed to a deeper understanding of the genetics, the clinical features, and the molecular pathways that play a role in what is now known as “Bosch-Boonstra-Schaaf Optic Atrophy Syndrome”. Christian and his team take a multi-facetted approach, including basic biochemical and cell biological studies, animal models, and clinical trials for human patients.

Christian is also a writer and an educator. He has authored several textbooks, including “Human Genetics – From Molecules to Medicine”, prefaced by a foreword written by Nobel laureate James Watson. Most importantly, Christian is an advocate. An advocate of those affected with neurodevelopmental and neuropsychiatric disease. Whether he makes a difference for 10 individuals or 10 million – his work is aimed at understanding the causes of disease, to empower affected individuals, and to improve quality of life.

Michèle Studer, PhD

Inserm Research Director at Institute of Biology, Nice, France

Michèle is a researcher in the field of developmental biology, interested in the process of mammalian brain growth and differentiation. She has worked in the UK, US, Italy, and finally in Nice, France, where she has been running an Inserm team since 2009. While searching for genes involved in brain formation, she came across NR2F1 and never let it go. Its primordial role in the early stages of cerebral cortex development makes it both mysterious and essential, and it never ceases to surprise her with its thousand facets as it unfolds on a journey of discovery and rediscovery. Her scientific publications on the role of Nr2f1 in mice have contributed to a better understanding of human pathology. Today, her team is trying to decipher the contribution of mutations identified in patients to the pathophysiological mechanisms of this rare genetic disease. With the help of researchers, clinicians, geneticists, and above all patients and their families, the aim is to advance research into this disease and improve the care and well-being of our young patients.

Veeral Shah MD, Ph.D

Pediatric Neuro-Ophthalmology, Division of Pediatric Ophthalmology, Cincinnati Children’s Hospital Medical Center
Assistant Professor, UC Department of Ophthalmology

Dr. Shah earned his undergraduate degree at the University of Pittsburgh. He received his Medical degree and Ph.D. from the University Of Pittsburgh School Of Medicine. He completed his ophthalmology residency at the University of Pittsburgh Medical Center (UPMC) Eye and Ear Institute. He completed two ophthalmology fellowships in Neuro-Ophthalmology at University of Miami/Bascom-Palmer Eye Institute in Florida, and a Pediatric-Ophthalmology at The Children’s Hospital of Philadelphia in Pennsylvania. He has practiced 5 years at Texas Children’s Hospital, Baylor College of Medicine, and MD Anderson prior to joining Cincinnati Children’s Hospital/ University of Cincinnati in 2020.

Dr. Shah is a pediatric and adult neuro-ophthalmologist with clinical interests that include demyelinating diseases, nystagmus, eye movement abnormalities, cranial nerve palsies, optic nerve hypoplasia, craniofacial diseases, intracranial tumors, optic neuropathy, complex strabismus, and ocular genetics/electrophysiology.

His clinical and basic research interests include molecular genetics of optic nerve protection/development and neuro-oncology.

Henning Fröhlich, Dr. rer. nat.

Working group leader (mouse models for neurodevelopmental disorders), Human Genetics at Heidelberg University

Henning studied biology with a focus on zoology and physiology and completed his doctorate in January 2008 at the Max-Planck-Institute for Heart and Lung Research in Bad Nauheim on the physiological role of the ion transporters Slc5a8 and Slc4a11. He then worked as a postdoctoral researcher at the European Molecular Biology Laboratory (EMBL) in Heidelberg and at the Institute of Physiology in Tübingen. Since 2011, he has been employed as a scientist at the Institute of Human Genetics, where he leads a group investigating certain neurodevelopmental disorders (FOXP1 syndrome, Schaaf-Yang syndrome (SYS) and Bosch-Boonstra-Schaaf syndrome (BBSOAS)) using specific mouse models.

His research aims to better understand the effects of the underlying genetic defects on brain development and function at the molecular level and how these disorders ultimately affect cognition and behavior. Since 2019, he has been working with Prof. Schaaf on researching BBSOAS and supervising the work of doctoral students studying this disorder in mouse models.

Sarah Poliquin, Ph.D

NR2F1 Foundation Scientific Officer, Staff

Sarah is a postdoctoral fellow at COMBINEDBrain, a consortium of patient advocacy groups for rare, genetic neurodevelopmental disorders. Sarah received her PhD in neuroscience from Vanderbilt University. Working in the lab of Dr. Katty Kang, Sarah’s research focused on the cellular mechanisms of genetic childhood epilepsies, such as Dravet syndrome. She investigated how protein degradation pathways like autophagy and the ubiquitin-proteasome system are involved in genetic epilepsies, and how to leverage these pathways for novel therapeutic approaches. She has also worked extensively on projects involving SLC6A1-mediated neurodevelopmental disorders, including preclinical research on 4-phenylbutyrate (PBA). Prior to Vanderbilt, Sarah earned her bachelor’s degree in neuroscience and biochemistry from the University of Miami in 2015.

Jane Edmond MD - Consultant

Inaugural Chair and Professor, Department of Ophthalmology, Dell Medical School, Director, Mitchel and Shannon Wong Eye Institute

Jane Edmond, is one of just 25 pediatric neuro-ophthalmologists in the USA and is Director of the Mitchel & Shannon Wong Eye Institute and Professor and Inaugural Chair of the Department of Ophthalmology at Dell Medical School at the University of Texas at Austin. She is currently President of the American Association for Pediatric Ophthalmology and Strabismus.

Drs. Schaaf and Edmond have met with dozens of families affected by NR2F1 mutations. Internationally renowned in their respective disciplines of genetics and ophthalmology, they are uniquely able to integrate perspectives and attract resources from both fields. They value collaboration with other researchers, AND with patient families. They are committed to advancing research to improve patients’ lives.