Mrs. Schnuck and her family have been strong supporters of numerous programs and activities at St. Louis Children’s Hospital as well as the Children’s Tumor Foundation. In addition, the family created the Donaldo O. Schnuck Family Professor in the Department of Neurology in 2002. which is held by Washington University NF Center Director, David H. Gutmann, MD, PhD.

“Mrs. Schnuck was a gracious and graceful woman who contributed immensely to culture and children’s health causes in the St. Louis area,” says Gutmann.

Mrs. Schnuck is survived by her 6 children, 20 grandchildren, and 12 great-grandchildren.

While people with NF2 are prone to developing brain and nerve tumors, many individuals also experience significant nerve dysfunction, weakness, loss of sensation and pain all of which can be unrelated to tumors. This type of nerve problem, called peripheral neuropathy, has received less attention, and the reason underlying its development is largely unknown.

In collaboration with lead scientist, Dr. Helen Morrison, Cynthia Garcia, a graduate student in the laboratory of David H. Gutmann, MD PhD, used Nf2 genetically-engineered mouse strains. In this study, they found that the Nf2 protein, merlin, is critical for maintaining normal peripheral nerve cell shape and function. Moreover, these studies have revealed the mechanism by which merlin controls healthy nerve cell function.

These exciting findings have important implications for the development of future therapies aimed at improving nerve function in individuals with NF2.

This report appears in the journal Nature Neuroscience.

Although the NF1GP has reached a significant point in its history, it is still vitally important for those with NF1 to continue to provide additionally DNA samples to this project. We have set a goal of 1,000 specimens over the next several years.

With exciting advances in the field of genome science, now is the time to work together, researchers, clinicians and families alike, to find the best possible treatments for people with NF1.

To learn more about the NF1GP, please see our CLINICAL STUDIES or email Alicia Vallorani at NFClinicalStudies@neuro.wustl.edu.

To determine whether microglia are important for NF1-associated brain tumor formation, Winnie Pong, PhD, a postdoctoral researcher in the laboratory of David H. Gutmann, MD PhD, used Nf1 genetically engineered mouse strains. She found that the microglia in these tumors express a particular protein (CX3CR1) important for their movement and migration. She then partly disabled the CX3CR1 gene in Nf1 optic glioma mice, and found that impairing microglia function delayed brain tumor development.

These exciting results establish a critical role for these stromal cells in the formation of optic nerve gliomas. This report was recently published in the journal Annals of Neurology.

One of the major challenges to clinical research focused on people affected with NF1 is the inability to assemble large numbers of individuals for study. To overcome this barrier, Dr. Johnson developed an online patient registry, which was officially launched in May 2011. This one-of-a-kind registry allows anyone with NF1 from across the world with internet access to enroll in the registry and participate in research. The goal of the NPRI is to help physicians and researchers conduct clinical research studies aimed at defining the risks for cancer and other health outcomes in children and adults with NF1. Researchers hope that the information gained from these studies may one day help clinicians to develop personalized treatment strategies that improve the quality of life for individuals living with NF1.

During the inaugural year of the NPRI, a total of 308 individuals from 44 U.S. states, the District of Columbia, and 19 countries on six continents participated in the registry. The registry includes participation of individuals from all races and the vast majority of participants agreed to future contact about research opportunities. The results from the registry’s first year strongly indicate that the internet is providing an unprecedented opportunity to rapidly connect individuals with rare diseases from across the world to researchers for studies that will ultimately improve the health of people living with these conditions.

Gutmann, also a professor of neurosurgery, pediatrics and genetics, is a world leader in neurofibromatosis research and clinical care. A set of complex genetic disorders, neurofibromatosis can affect almost every organ system, causing a predisposition for tumors to grow on nerves in the brain and throughout the body.

Considered the ultimate physician-scientist, Gutmann’s generosity as a collaborator and mentor and his talent for multidisciplinary investigation epitomize the power of transitional research. He has made many seminal contributions to the understanding of NF, including developing critical mouse tumor models, identifying several theraputic drug targets, and establishing the molecular bases for several clinical problems affecting patients with NF1 and NF2. He has published more than 300 peer-reviewed papers.

Gutmann has played a critical role in advancing the care of patients with NF. He is the founder and director of the Washington University and St. Louis Children’s Hospital Neurofibromatosis Clinical Program, and he established the Washington University Neurofibromatosis Center in 2004, now one of the world’s largest NF research centers. He is an international thought leader in NF clinical practice and research, and has received many honors for his contributions, including the National Neurofibromatosis Foundation Crystal and Center of Excellence Awards, the Walker Lecture in Neurofibromatosis, the Takao Hoshino Lectureship, and the Frederick von Recklinghausen Award.

He earned his doctoral degree in 1984 and his medical degree in 1986, both from the University of Michigan. He completed his residency at the University of Pennsylvania and a fellowship at the Howard Hughes Medical Institute, working with Francis Collins, MD, PhD. He joined that Washington University faculty in October 1993.

David H. Gutmann, MD, PhD, has been recognized in the St. Louis Post-Dispatch for receiving the McDonnell Foundation Grant for this very exciting project.

Dr. Van Tine obtained his MD and PhD degrees from the University of Alabama, Birmingham prior to completing residency and oncology fellowship training at Barnes-Jewish Hospital and Washington University. In 2011, Brian joined the faculty in Medical Oncology where he now heads the Sarcoma Program. In this capacity, Dr. Van Tine cares for patients with NF1 and malingnant peripheral nerve sheath tumors (MPNSTs).

Dr. Van Tine joins Allison King, MD and David H. Gutmann, MD, PhD as Washington University NF Center Siteman Cancer Center Rock Docs. More information can be found on the Alvin J. Siteman Cancer Center Website and in the January 2013 issue of St. Louis Magazine.

Dr. Van Tine (far right) celebrates the night with
Dr. Gutmann and his wife Robin