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Neurofibromatosis Overview
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Johns Hopkins Outpatient Center
Dr. Jaishri Blakeley is the Marjorie Bloomberg Tiven Professor of Neurofibromatosis in Neurology, Oncology, and Neurosurgery at Johns Hopkins School of Medicine, director of the Johns Hopkins Comprehensive Neurofibromatosis Center and director of the Neurofibromatosis Therapeutic Acceleration Program (NTAP). She is an active clinician-scientist specializing in the care of people with NF1, NF2, LZTR1, SMARC1 schwannomatoses, and primary brain tumors. Her research expertise in the development of clinical trials for nervous system tumors and specifically, early clinical-translational studies including tumor pharmacokinetic and pharmacodynamic investigations, imaging biomarkers for rare nervous system tumors, and incorporation of patient-focused, functional endpoints into efficacy studies. She has been the national or international leader of 7 clinical trials focused on therapies for glioblastoma, NF1 and NF2. In 2012 she cofounded the NTAP to dramatically shift the landscape of NF1 via necessary, efficient, and expert discovery, translational and clinical research. NTAP focuses on therapeutics, fosters collaboration, facilitates open and timely sharing of results, and streamlines the research process to accelerate therapies for plexiform and cutaneous neurofibromas. Through NTAP, Dr. Blakeley has supported and collaborated with more than 80 laboratories and research teams across the globe enabling meaningful therapeutic development for NF1-associated neoplasms and supporting the development of an exceptional community of clinician scientists focused on NF1 via the Francis S. Collins Scholars Program in Neurofibromatosis Clinical and Translational Research. Her research and programmatic efforts are all in the service of improving outcomes for the patients with NF1, NF2, schwannomatosis, and primary brain cancer for whom she is honored to provide care. Dr. Blakeley is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis. Her top areas of expertise are Neurofibromatosis, Schwannomatosis, Neurofibromatosis Type 2 (NF2), Neurofibromatosis Type 1 (NF1), and Laminectomy.
Johns Hopkins Health Care & Surgery Center - Green Spring Station, Lutherville
Carlos Romo, M.D., is a neuro-oncologist in Baltimore, Maryland. Dr. Romo specializes in the diagnosis and treatment of brain tumors, including glioblastoma, astrocytomas, oligodendrogliomas, neurofibromas, and schwannomas among others. Dr. Romo earned his medical degree from the School of Medicine and Health Sciences at Tecnológico de Monterrey in Mexico and completed his Neurology residency at the University of Arkansas for Medical Sciences, where he served as chief resident. He then completed a Neuro-oncology clinical and research fellowship in a joint program between The Johns Hopkins University and the National Institutes of Health. Dr. Romo additionally trained as a clinical pharmacology fellow at The Johns Hopkins University and completed training on clinical cancer research at the University of Texas MD Anderson Cancer Center. In his research, Dr. Romo studies drug pharmacokinetics and the blood-brain barrier, and investigates better ways to reach tumors in the central nervous system. Dr. Romo also studies treatments for patient with neurofibromatosis. In addition to patient care and research, Dr. Romo teaches and mentors medical and undergraduate students to help develop a future generation of neurologists. Dr. Romo is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis. His top areas of expertise are Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Schwannomatosis, and Astrocytoma.
Johns Hopkins Children's Center
Dr. Christine Pratilas is a pediatric medical oncologist at the Sidney Kimmel Comprehensive Cancer Center and Associate Professor of Oncology, Pediatrics & Cellular and Molecular Medicine at the Johns Hopkins University School of Medicine. She joined the Hopkins pediatric sarcoma team in 2014. Dr. Pratilas received her undergraduate degree in Biology from Drew University in New Jersey and her medical degree from UMDNJ - Robert Wood Johnson Medical School (now Rutgers University), where she also completed her internship and residency from 1999 to 2002. From 2002 to 2005 she was a fellow in hematology and oncology in the Memorial Sloan Kettering Cancer Center (MSKCC) Department of Pediatrics, and in the Department of Pediatric Hematology and Oncology at New York Weill Cornell Medical Center. She was a postdoctoral research fellow in Dr. Neal Rosen’s Molecular Oncogenesis Laboratory at MSKCC. From 2006 to 2014 she was attending in Pediatric Oncology at MSKCC, specializing in developmental therapeutics & sarcoma. She has been the director of the pediatric sarcoma program at Hopkins since 2018. Dr. Pratilas focuses her research on cancer-associated pathways and signal transduction, which involves figuring out how a cell’s internal molecular pathways work, and how those pathways can be molecularly controlled. This knowledge is the basis for developing promising new molecularly targeted cancer therapies, which is the focus of Dr. Pratilas’s research. Among her important scientific contributions is advancing our understanding of how certain proteins that can be mutated in cancer, known as RAF kinases (specifically BRAF), affect a cancer cell’s behavior. The research in Dr. Pratilas' laboratory is focused on RAS signal transduction pathways, concentrating on pediatric sarcomas such as rhabdomyosarcoma and malignant peripheral nerve sheath tumors, in order to develop novel therapeutics for children with these tumors. Dr. Pratilas is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis. Her top areas of expertise are Malignant Peripheral Nerve Sheath Tumor, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Adult Soft Tissue Sarcoma, and Osteotomy.
Summary: The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families. Two types of indicators will be used to reach this objective : 1. an individual burden score calculated based on a burden questionnaire created...
Summary: This phase III trial compares the effect of selumetinib versus the standard of care treatment with carboplatin and vincristine (CV) in treating patients with newly diagnosed or previously untreated low-grade glioma (LGG) that does not have a genetic abnormality called BRAFV600E mutation and is not associated with systemic neurofibromatosis type 1. Selumetinib works by blocking some of the enzymes ...


