OUR MISSION is to provide exceptional care to individuals with neurofibromatosis (NF) through groundbreaking research. We strive to change the standard of care for people with NF by seamlessly integrating research into our clinical practice.

We envision a future for people with NF that is less uncertain. Currently, when people visit us seeking a diagnosis, we cannot determine which aspects of NF they might develop throughout their lifetime. Through our research, we seek to identify risk factors in individuals with NF1 that predispose them to specific medical and behavioral concerns. We believe that our findings will one day enable us to give our patients a clear understanding of how their NF will develop.

Thirty Years of the NF Center

The Washington University NF Center was first established in 2004 by David H. Gutmann, MD, PhD, with the mission of fostering collaboration between clinicians and laboratory scientists aimed at accelerating scientific discovery and its application to the care of people with Neurofibromatosis and related conditions.

Milestones

2023

  • Dr. David Gutmann, MD-PhD was inducted into the National Academy of Medicine (NAM)
  • Introduced the first NF Family Day at the Missouri Botanical Garden
  • Introduced Camp NF, a therapy-directed summer camp for grade school-aged children with NF1
  • Dr. Angela Hirbe, MD-PhD was awarded the 2023 Make NF Visible Researcher Award from the Children’s Tumor Foundation
  • Developed the Adolescent and Young Adult (AYA) Transition Clinical Program
  • Demonstrated that MEK therapy synergizes with TYK2 inhibition for MPNST treatment
  • Showed that a common mutation in the CRLF3 gene impairs nerve cell function relevant to autism in children with NF1
  • Demonstrated that MEK inhibitors enhance seizure control in a child with NF1
  • Showed that male-specific defects in Nf1-mutant microglia function reflect interactions with other brain cell types
  • Dr. Corina Anastasaki, PhD was awarded the 2023 Women in Neuro-Oncology (WiN) Abstract Award in Basic/Translational Science Research
2021-2022
2022
  • Developed humanized mouse models for human low-grade gliomas
  • Discovered that nerve cells control neurofibroma growth
  • Showed that repurposing a commonly used anti-seizure medicine blocked the growth of optic gliomas and neurofibromas in mice
2021
  • Demonstrated that asthma reduces NF1 optic glioma progression in mice
  • Discovered that nerve activity drives NF1 optic glioma formation in mice
  • Developed the first mouse model of dermal neurofibromas
  • Identified a new gene involved in NF1 autism
2016-2020
2020
  • Demonstrated that T cells are required for NF1 optic glioma in mice
  • Identified sex differences in the brains of mice
  • Discovered different effects of NF1 mutation on human brain development
2019
  • Defined how immune system cells control optic glioma growth in mice
  • Developed a mouse model for sleep disturbances in NF1
  • Identified new genetic markers for brain immune system cells
  • Found that deficits in adaptive functioning are common in children with NF1
  • Completed a large multi-center study of NF2 in children younger than ten years of age
  • Nicole M. Brossier, MD, PhD, awarded research fellowship grants from Hyundai Hope on Wheels and Alex’s Lemonade Stand Foundation
  • David H. Gutmann, MD, PhD, FAAN was awarded a three-year Gilbert Family Foundation Vision Restoration Initiative grant, received a second Einstein Visiting Fellowship from the Berlin Institute of Health, and honored with the Society for Neuro-Oncology Abhijit Guha Award
2018
  • Characterized optic gliomas in a pig model of NF1
  • Identified a reason for short stature in children with NF1
  • Discovered that immune system cells (T lymphocytes) are important for mouse optic glioma formation
  • Reported that children with mutations in the first half of the NF1 gene are less likely to have severe autism features
  • Found a new biomarker for malignant peripheral nerve sheath tumor (MPNST) progression
  • Discovered that brain tumors occur more often than previously appreciated in children with NF1
  • Corina Anastasaki, PhD was awarded one of the first Research Specialist (R50) grants from the National Cancer Institute
2017
  • Reported that Nf1-mutant mice have abnormalities in social behaviors, similar to children with autism
  • Assembled the world’s largest study of brainstem gliomas in children with NF1
  • Angela C. Hirbe, MD, PhD was honored with the Francis S. Collins Scholar Award for Neurofibromatosis Clinical and Translational Research
  • Identified the reason why female, but not male, mice with Nf1 optic gliomas lose vision
  • David H. Gutmann, MD, PhD was awarded a Berlin Institute of Health Einstein Fellowship and an Alexander von Humboldt Award to establish an international research team at the Max Delbruck Center for Molecular Medicine
  • Identified mutations in a new gene responsible for the development of neurofibromas in people without NF1
2011-2015
2015
  • Discovered genomic predictor of NF1-brain tumor development
  • Launched a social skills program for teenagers with NF1 (Teen NF)
  • Identified a new growth factor made by non-cancerous cells that control mouse optic glioma growth
  • Discovered how RAS controls brain stem cell function
  • Described the frequency of autism in children with NF1
  • Identified another treatment for NF1 optic glioma, now in clinical trial for children with NF1 brain tumors
  • Used advanced sequencing methods to identify a new gene involved in NF1 malignant sarcoma (malignant peripheral nerve sheath tumors)
  • Reported the first use of NF1 patient-derived stem cells to generate brain nerve cells
  • Discovered why NF1 optic glioma stem cells are less sensitive to some brain tumor treatments
2014
  • Established that gender influences optic pathway glioma (OPG)-associated vision loss
  • Identified new mutation in malignant peripheral nerve sheath tumors (MPNSTs)
  • Identified a new therapeutic target for NF1-optic glioma
  • Determined how RAS protein controls cyclic AMP levels
2013
  • Performed the first whole genome sequencing of NF1-associated low-grade glioma
  • Demonstrated that non-cancerous cells in NF1-associated optic glioma are necessary for tumor formation
  • Showed that reduced dopamine levels are also partly responsible for learning problems in NF1 genetically-engineered mice
  • Characterized the spectrum of sleep problems in people affected with NF1
  • Collaborated with Jazz St. Louis to launch a music-motor therapy program for toddlers with NF1 (Beat NF)
2012
  • Demonstrated frequent development delays in children with NF1
  • Demonstrated that differences between stem cells in particular brain regions partly determine the pattern of brain tumor formation in children
  • Identified the cell of origin for NF1-associated optic glioma
  • Established the NF1 Brain Trust Project (NBTP) in which skin cells are converted to nerve cells for laboratory and translational research studies
2011
  • Defined the manner by which rapamycin inhibits NF1-associated glioma cell growth
  • Collaboratively identified the cell of origin for NF2-associated meningioma
  • Demonstrated that nerve cell death resulting from optic glioma can be reversed
  • Launched a play-based therapy program for children with NF1 (Club NF)
  • Established the first on-line patient registry, called the NF1 Patient Registry Initiative (NPRI), to facilitate NF1 epidemiologic studies
  • Created the NF1 Genome Project (NF1GP) to discover predictive genetic markers of brain tumor formation in children with NF1
2004-2010
2010
  • Demonstrated how stem cells in different regions of the brain control their growth following NF1 gene dysfunction
  • Developed the first small-animal model of NF1-associated attention deficit
  • Identified reduced dopamine levels as responsible for the attention deficits in NF1 genetically-engineered mice
  • Discovered new treatments for NF1-associated attention deficit
2009
  • Investigated the therapeutic potential of rapamycin for treating human NF1-associated malignant peripheral nerve sheath tumor
  • Determined the value of café-au-lait macules in children for establishing the diagnosis of NF1
  • Demonstrated that nerve cell death underlies the vision loss in mice with NF1-associated optic glioma
  • Identified new molecular targets for NF2-associated brain tumor treatment
2008
  • Demonstrated that the NF2 gene controls brain tumor growth
  • Showed that the NF1 gene controls pituitary gland function and body growth in mice
  • Identified how the NF1 gene controls non-cancerous cell function in mouse optic gliomas
2007
  • Applied advanced magnetic resonance imaging (MRI) to study mouse models of NF1-associated optic glioma
  • Organized the second NF1 Optic Glioma Task Force report on the management of these tumors in children with NF1
  • Demonstrated that non-cancerous cells make factors that control the growth of NF1-associated optic glioma
  • Showed that the NF1 gene controls brain cell development differently in glial (support) cells than in nerve cells
2006
  • Co-organized first Cold Spring Harbor Laboratories meeting focused on using mouse models to inform human clinical trials
  • Selected as a participating site for the Department of Defense NF Clinical Trials Consortium
2005
  • Defined the pattern of optic glioma growth in small-animal models
  • First identified rapamycin as a rational therapy for NF1-associated tumors
  • Showed how the NF1 gene controls brain stem cell function
  • Developed two additional small-animal models of NF1-associated optic glioma
2004
  • Developed the first small-animal model of NF1-associated optic glioma
  • Determined how NF2 protein function is controlled in tumor cells
  • Employed genomic methods to distinguish NF1-associated malignant peripheral nerve sheath tumors from those arising in people without NF1