Gutmann Research Laboratory | Washington University School of Medicine in St. Louis

NF Center Investigators Awarded Center for Regenerative Medicine Grant

The Center for Regenerative Medicine, together with the Intellectual and Developmental Disability Research Center (IDDRC) at Washington University, awarded a pilot award to Kristin Kroll, PhD to study the impact of NF1 gene mutations on brain nerve cells (neurons). The focus of this study is to understand how NF1 mutations affect brain development relevant to learning disabilities, attention deficit, and autism, which are all common in children with NF1.

NF Center Researcher Receives Children’s Tumor Foundation Young Investigator Award

Michelle Wegscheid, an MD/PhD trainee in the laboratory of Dr. David H. Gutmann, was recently awarded a Children’s Tumor Foundation Young Investigator Award to continue her exciting work on how mutations in the NF1 gene affect human brain development. For her thesis project, she is working to define how different NF1 patient NF1 gene mutations contribute to the heterogeneity of neurodevelopmental abnormalities observed in people with NF1.

Genomic Roadmap for Sarcoma Established

Soft tissue cancers, including malignant peripheral nerve sheath tumors arising in people with Neurofibromatosis type 1 (NF1), have recently undergone comprehensive genetic and genomic analyses. Read further about this landmark study, involving Drs. Brian Van Tine (Medical Oncology) David H. Gutmann (Neurology) and Li Ding (Genetics) from Washington University, characterizing over 200 adult sarcomas representing six different types of these cancers.

NF Researchers Discover Role for NF1 in Circadian Rhythm Function

Investigators from the Perelman School of Medicine at the University of Pennsylvania, led by Dr. Amita Sehgal, have uncovered that the NF1 gene controls the brain’s perception of time of day signals. Read further about their new study, and exciting findings, suggesting that the Nf1 gene is a key regulator of daily rhythms in fly and mammalian cells relevant to the sleep disturbances common in children and adults with NF1.

To Help Kids Battling a Rare Disease, Scientists Forge a Genetic Link between People and Pigs

Mason is 7. He loves food (especially when he can share it with others) and anything military (both of his grandfathers served). He likes to fly kites and play with his 5-year-old sister, Alexandra. But Mason was born with a disease called neurofibromatosis type 1, or NF1, and each day can present new challenges for him and his family. Read further about how Mason's family turned to science and research for help in understanding NF1.

Washington University NF Center Hosts International Glia Expert

Investigators at the Washington University NF Center were delighted to have Professor Helmut Kettenmann visit from the Max Delbrück Center in Berlin. During his one-day stay, he spent time meeting and talking science with numerous members of the research staff and faculty to learn more about NF. This visit is part of an ongoing international collaboration between the laboratories of David H. Gutmann, MD, PhD and Professor Kettenmann.

The NF1 Mutation as a Risk Factor for Autism in Individuals with NF1

Although every person with NF1 is born with a mutation in one of their two NF1 genes, the problems arising in any one person can be quite different. In an attempt to better understand the relationship between specific NF1 gene mutation and autism, Dr. Stephanie Morris examined over 50 people with NF1. Read further about Dr. Morris’s findings that people with mutations within the first half of the NF1 gene were less likely to have severe autism symptoms.

Human and Mouse NF1 Gene Maps Updated

When the gene responsible for NF1 was first discovered over 25 years ago, the NF1 gene had not yet been fully identified. While scientific advances rendered a more complete map of the NF1 gene, its entire sequence was no longer accurate. This created considerable confusion in the clinical and scientific research communities when assigning a location to a specific NF1 gene mutation. Read further to see how a collaborative team of researchers are finding ways to address this problem by proposing a new numbering system to provide a unified nomenclature for both the mouse and human NF1 genes.

Gary Guo Joins the Gutmann Laboratory

Gary Guo, MD recently joined the research laboratory of NF Center director, David H. Gutmann, MD, PhD, as foreign graduate student. Dr. Guo received his medical training at Shandong University in Jinan China, and is currently a PhD candidate in the Department of Neurosurgery. Over the past several years, Dr. Guo has been studying malignant brain tumors. For his graduate studies, Gary will be using stem cells from low-grade brain tumors arising in Nf1 mutant mice with optic gliomas to find new treatments for children with NF1-associated brain tumors.

The Specific Genetic Mutation May Influence NF1 Brain Tumor Development

While every person with the Neurofibromatosis type 1 cancer predisposition syndrome is born with a single mutation in one copy of their two NF1 genes, it is not known whether the type of mutation predicts what medical problems might arise in any given individual. In this study, Corina Anastasaki, PhD, sought to determine whether children with brain tumors (optic gliomas) were more likely to have mutations in specific regions of the NF1 gene.

Dr. Jacobsen joins the Gutmann Laboratory

Kristen Jacobsen, PhD recently joined the research laboratory of NF Center director, David H. Gutmann, MD, PhD, as a postdoctoral research fellow. Dr. Jacobsen completed her graduate training with Douglas Graham, MD, PhD at the University of Colorado and Emory University, where she investigated the importance of the tumor microenvironment in breast cancer and leukemia development and growth.

Dr. Xiong joins the Gutmann Laboratory

Min Xiong, MD, PhD recently joined the research laboratory of NF Center director, David H. Gutmann, MD, PhD, as a research fellow. Dr. Xiong completed her medical and PhD training in China. As a graduate student, she focused on the genetics of liver cancer. For the past several years, Dr. Xiong has been an attending doctor in the Reproductive Medicine Center at Tongji Hospital in Wuhan, China.

Researchers Describe Early Autism-like Behaviors in Mice

Children with neurofibromatosis type 1 (NF1) are prone to the development of cognitive and behavioral problems. In addition, 15-30% of individuals with NF1 show signs of autism spectrum disorder (ASD). In order to better understand ASD in NF1, read further about how researchers at the Washington University Neurofibromatosis (NF) Center assessed early communicative behaviors in two different Nf1 mouse models.

Dr. Brossier joins the Gutmann Laboratory

Nicole M. Brossier, MD, PhD recently joined the research laboratory of NF Center director, David H. Gutmann, MD, PhD, as a postdoctoral research fellow. Dr. Brossier completed her MD and PhD training at the University of Alabama, Birmingham under the mentorship of Steven Carroll, MD, PhD, where she worked on malignant peripheral sheath tumors. She was then recruited to Washington University and St. Louis Children’s Hospital as a trainee in the Physician Scientist Training Program (PSTP).

Jason Papke joins the Gutmann Laboratory

Jason Papke, MS recently joined the research laboratory of NF Center director, David H. Gutmann, MD, PhD, as a staff scientist. Mr. Papke was previously a research assistant at St. Louis University (SLU) in the Department of Pharmacological and Physiological Science. Jason completed his undergraduate training in Biology at the University of Missouri-St. Louis, and his Masters of Science degree in Health Outcomes Research at SLU.

Using Mathematics to Treat Brain Tumors

Nearly one in every five children with NF1 will develop a brain tumor involving the nerve that carries vision from the eye to the brain (optic nerve). In an effort to identify more effective tumor therapies, advanced mathematic approaches were applied to whole tumor RNA sequencing data. Read further about Dr Yuan Pan’s recent study showing how these mathematics approaches can potentially be used to better predict tumor treatment response.

New Cell of Origin for Optic Gliomas Identified

Children with Neurofibromatosis type 1 (NF1) are prone to the development of low-grade brain tumors affecting the nerve carrying vision to the brain, called the optic nerve. Where these tumors come from has been a matter of scientific debate. Anne Solga, PhD, along with NF Center and the University of California-San Diego colleagues, now report that optic gliomas develop from both neural stem cells and progenitor cells. Read more about their recent publication in the journal Oncotarget.

Genetic Cause for Neurofibromas Discovered

While virtually all adults with NF1 develop benign tumors associated with nerves, called neurofibromas, these tumors can also arise in people without NF1. In individuals with NF1, neurofibromas are caused by mutations in the NF1 gene; however, the genetic cause for sporadic tumors was previously unknown. Read more about how Corina Anastasaki, PhD, recently found mutations in a gene that likely are responsible for the development of the neurofibromas in some individuals without NF1.

NF Center Faculty Awarded Prestigious Francis S. Collins Scholars Award

Angela C. Hirbe, MD, PhD, Assistant Professor in the Division of Medical Oncology at Washington University, was recently selected as a 2017 recipient of the Francis S. Collins Scholars Award in Neurofibromatosis Clinical and Translational Research. The award was established to build a community of exceptional clinician scientists who will lead neurofibromatosis type 1 (NF1) research and clinical care.

New Treatment for NF1 Malignant Cancer

Young adults with NF1 are at risk for developing a rare type of sarcoma called a malignant peripheral nerve sheath tumor (MPNST). In their recent report, Angela C. Hirbe, MD, PhD and her colleagues used a combination of several chemotherapy drugs prior to surgery for MPNST treatment, and demonstrated that 60% of patients treated before surgery exhibited a response to this combination. Read further on how these exciting data show that MPNSTs can shrink in response to chemotherapy.

Gutmann Awarded International Fellowships

David H. Gutmann, MD, PhD, has been awarded the Alexander von Humboldt Professorship, Germany’s highest academic award for researchers outside the country, and has been named an Einstein Visiting Fellow by the Berlin Institute of Health. Dr. Gutmann will be working with the Max Delbrück Center for Molecular Medicine, co-leading a team to investigate the relationship between a type of brain cell, known as microglia, and neurological diseases, including brain tumors and autism.

NF Center Trainee Publishes World’s Largest Study on Brainstem Tumors in Neurofibromatosis 1 (NF1)

Children with NF1 are at risk for developing brain tumors. While much is known about the more common optic pathway gliomas, comparatively less is known about NF1-associated brainstem gliomas. To learn more about these tumors, Dr. Jasia Mahdi and her colleagues worked with investigators at Lurie Children’s Hospital in Chicago, Children’s Hospital of Philadelphia, and Children’s National Medical Center in Washington DC.

Corina Anastasaki, PhD Promoted to Senior Research Scientist

Corina Anastasaki, PhD has recently been promoted to the role of Senior Research Scientist in the Gutmann laboratory. While she will remain active in fundamental laboratory research, she is also guiding the scientific direction of translational research in the Center, and has assumed public outreach responsibilities aiming to bring the NF Center to the public.

$3.5 Million Funds Study Aimed at Applying Precision Medicine to Rare Tumor Disorder

David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor and director of the Neurofibromatosis Center at Washington University School of Medicine in St. Louis, received a $3.5 million grant to study why people with the same genetic mutation develop markedly different signs and symptoms.

NF Center Researchers Identify a New Growth Regulatory Circuit Critical for Malignant Glioma Survival

Glioblastoma (GBM) are the most malignant brain tumor in adults, with over 13,000 people in the United States dying from these cancers each year. Read more about how Dr. Yuan Pan, and her colleagues at the Washington University NF Center, focused research on how tumor growth in this class of GBM is controlled.

Michelle Wegscheid, MD/PhD trainee, Joins the Gutmann Laboratory

The laboratory of Dr. David Gutmann at the Washington University Neurofibromatosis (NF) Center welcomes Michelle Wegscheid as an MD/PhD trainee in the Neurosciences Program at Washington University. With her experience and skill set, she hopes to advance our understanding of brain development in individuals with NF1.

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