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.

Jane Edmond MD

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.

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.

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.