Francis S. Collins Scholars Program

Dr. Harish Vasudevan attended the California Institute of Technology for his undergraduate education before completing his MD/PhD training at the Icahn School of Medicine at Mount Sinai, where his thesis work focused on understanding receptor tyrosine kinase signaling during development. He is now a Holman Pathway Research Fellow in the Department of Radiation Oncology at the University of California San Francisco (UCSF) where his postdoctoral work has elucidated genomic mechanisms underlying tumor heterogeneity and oncogenic signaling in neurofibromatosis type I (NF1). As a Francis Collins Scholar, Dr. Vasudevan will focus on understanding the transformation of neurofibroma to malignant peripheral nerve sheath tumor (MPNST) with an emphasis on identifying and testing novel treatments for patients with NF1. In addition, through his clinical practice as a radiation oncologist, Dr. Vasudevan will play an active role in the multidisciplinary care of tumors arising in patients with NF1 and translate discoveries made at the laboratory to the clinic.

Suganth Suppiah, MD, University of Toronto, 2021

Dr. Suganth Suppiah completed his medical training at Western University and is currently completing his neurosurgical residency and Ph.D. at the University of Toronto. In 2022, he will be a fellow in peripheral nerve surgery at the University of Calgary. During his graduate training, he has characterized the molecular landscape of peripheral nerve sheath tumors associated with NF1, including neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs) using state-of-the-art technologies. Integrating these valuable datasets, Dr. Suppiah is working to identify the molecular pathways that drive malignant transformation in the context of NF1 and identify therapeutics to treat these tumors. Through his research and his clinical exposure to the Elisabeth Raab Neurofibromatosis Clinic in Toronto, he developed a commitment to NF1. As a peripheral nerve surgeon, he plans to specialize in surgical management of these tumors and improve the quality-of-life of NF1 patients.

Dr. Nicole Brossier obtained her MD and PhD from the University of Alabama School of Medicine, then completed her Pediatric residency and Pediatric Hematology/Oncology fellowship at Washington University in St. Louis (WUSL) as part of the Pediatric Physician Scientist Training Program. She is a pediatric neuro-oncologist who specializes in the care of children with NF1-related brain tumors. During her postdoctoral work in the lab of Dr. David Gutmann, she built a platform to assess how different factors impact brain tumor penetrance in children with NF1. Her laboratory now focuses on how different factors (including environmental, developmental and genetic) impact neural stem cells to modulate pediatric brain tumor development. As an FCS scholar, Dr. Brossier will study whether germline NF1 gene variants and maternal diet are risk factors for NF1-glioma formation.

Dr. Green is a physician-scientist and a child psychiatrist. She gained her training as a child psychiatrist at Tel Aviv University in Israel. She has completed a postdoctoral research fellow in neuroscience at the Center for Interdisciplinary Brain Sciences Research at Stanford University. Currently, she is an Assistant Professor at the Department of Psychiatry and Behavioral Sciences at Stanford. Her lab takes a “genetic first” approach, which is the study of children with known genetic conditions who present with attention deficits, hyperactivity, and deficits in social cognition. Her lab’s focus is on the Rasopathies, a collection of syndromes associated with genetic mutations affecting the Ras/MAPK pathway. Dr. Green holds a career developmental award from NICHD studying Ras/MAPK mutations’ effects on the developing brain. These studies are directed at uncovering neural correlates associated with deficits in attention, memory, and social skills in Noonan syndrome. As an FCS scholar, Dr. Green will expand her focus to study brain development and organization in children with NF1. The ultimate goal to understand how brain imaging in NF1 can serve as sensitive indicators of a treatment’s effects on cognitive and behavioral functions related to ADHD, autism spectrum disorders, and learning disabilities in NF1.

Dr. Steven Rhodes completed his M.D., Ph.D. and pediatric residency training at the Indiana University School of Medicine/Riley Hospital for Children. He is currently completing his fellowship training in Hematology-Oncology as part of the Pediatric Scientist Development Program (PSDP) supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the American Society of Pediatric Department Chairs (AMSPDC).   He is performing his post-doctoral research in the laboratory of Dr. Wade Clapp. During his training, he has developed new mouse models that accurately mimic the progression of cutaneous and atypical neurofibroma precursor tumors to a deadly sarcoma called malignant peripheral nerve sheath tumor (MPNST); the leading cause of death in people with NF1.  Using these models and other state-of-the art technologies, Dr. Rhodes is working to identify potential new therapies that can not only treat MPNST, but ultimately prevent the development of these devastating tumors in individuals who are at risk. As a pediatric oncologist, he plans to devote his clinical practice to caring for children with NF1-associated neurofibromas, MPNST, and other related tumors.

Ina Ly, M.D., grew up in Cologne, Germany, and attended King’s College London for medical school before coming to the U.S. for a postdoctoral research fellowship in neuro-oncology at Massachusetts General Hospital (MGH), Boston, in 2010. After completing her residency in neurology at the University of Washington, Seattle, she returned to MGH and the Dana Farber Cancer Institute in 2015 for her clinical fellowship. Her current research involves the use of advanced magnetic resonance imaging techniques, such as diffusion, perfusion and spectroscopy imaging, to study the biology of nervous system tumors. Through her clinical exposure to NF1 patients, she developed a strong interest in peripheral nerve sheath tumors (PNST), which can become malignant and contribute to significant patient morbidity and mortality. Her goal is to apply her knowledge of advanced MRI to identify imaging features that predict tumor growth and malignant transformation in PNSTs. She is grateful to NTAP and the NF1 community for supporting her research in order to advance our understanding of NF1 and have a positive impact for patients.

Shruti Garg, M.B.B.S., Ph.D., is a child and adolescent psychiatrist from Mumbai, India. After finishing medical school there, she moved to the U.K. to complete her training at Oxford University and the University of Manchester. She now splits her time researching and seeing patients at the Royal Manchester Children’s Hospital. After learning about NF1 during her residency in 2008, she noticed a lack of understanding about its deep psychological, social and cognitive effects. “Much of the real-life impact of NF1 on children and families comes from learning and behavioral difficulties that aren’t well studied,” she says. “For example, many kids with NF have autism, too.” With this award, Garg plans on studying working memory in children with NF1. (Working memory helps us pay attention, follow instructions, reason through things and make decisions.) She will use imaging to monitor levels of the brain chemical GABA, which is related to working memory. She already has preliminary data suggesting that GABA levels improve with transcranial direct stimulation to the frontal area of the brain. She is honored to be the first non-U.S. resident and the first cognitive researcher to be inducted as a FCS.

Narrative: Read about the project’s background, goals, specific aims, methods, preliminary results, and impact (auspices of Dr. Angela Hirbe, hirbea@wustl.edu)

Dr Angela Hirbe is a graduate of the Washington University M.D. Ph.D. program and completed her residency in Internal Medicine and fellowship in Oncology as part of the Physician Scientist Training Program.   Dr. Hirbe has had a longstanding interest in Neurofibromatosis research and her post-doctoral work was performed in the laboratory of Dr. David Gutmann where she used next-generation sequencing technologies to identify b-III spectrin as a protein involved in malignant peripheral nerve sheath tumor (MPNST) pathogenesis and developed a mouse model for this deadly type of sarcoma.  This work has transitioned into her own lab when she joined the faculty at Washington University.  Dr. Hirbe is currently an Assistant Professor in the Division of Medical Oncology in the Department of Medicine at Washington University in St. Louis.  Clinically, Dr Hirbe treats patients with sarcoma and has a strong clinical interest is in the care of patients with NF1-MPNST.  Her laboratory continues to use genomics to identify drivers in MPNST pathogenesis and further develop mouse models for preclinical studies and therapeutic drug testing.

Narrative: Read about the project’s background, goals, specific aims, methods, preliminary results, and impact (auspices of Dr. Ping Chi, chip@mskcc.org)

Dr. Ping Chi is an Assistant Member in the Human Oncology and Pathogenesis Program (HOPP), and an Assistant Attending Physician in the Department of Medicine at Memorial Sloan Kettering Cancer Center in New York City. Dr. Chi completed clinical training in internal medicine at the Brigham and Woman’s Hospital and Medical Oncology at Memorial Sloan-Kettering Cancer Center, and a concurrent postdoctoral training in epigenetics and chromatin biology in the C. David Allis’ lab at the Rockefeller University. Dr. Chi’s current laboratory research focuses on understanding the genetic and epigenetic mechanisms of transcriptional activation of novel oncogenic transcripts and oncogenic transcription factors in solid tumor malignancies. Through mechanistic studies, she aims to identify novel therapeutic strategies to target oncogenic transcription factors and aberrant transcriptional activation of oncogenes. Dr. Chi also maintains an active academic clinical practice, leads early phase clinical trials, and works with a multidisciplinary team to care for patients with sarcomas, with the goal to expedite clinical translation of laboratory research.

Narrative: Read about the project’s background, goals, specific aims, methods, preliminary results, and impact (auspices of Dr. Ashley Cannon, ashleycannon@uabmc.edu)

Ashley Cannon, PhD, MS, CGC is an Assistant Professor at the University of Alabama at Birmingham in the Department of Genetics. Dr. Cannon was named to the Francis S. Collins Scholars Program in 2016. She is a neuroscientist and certified genetic counselor. Her previous research experience at Mayo Clinic Florida encompassed molecular genetics, neuropathology, and mouse modeling of neurodegenerative diseases. This research exposed her to the significance of genetic counseling for individuals and families affected by genetic conditions and motivated her to become trained as a genetic counselor. She received an MS in Genetic Counseling at UAB in 2015. She currently provides genetic counseling for the Neurofibromatosis Clinic and Undiagnosed Diseases Program. Her current research comprises the longitudinal quantification, treatment, and psychosocial impact of cutaneous neurofibromas in individuals with NF1. She is a native of Jacksonville, Florida and loves science fiction novels and movies.

Narrative: Read about the project’s background, goals, specific aims, preliminary results, and impact (auspices of Dr. Verena Staedtke, vstaedt1@jhmi.edu)

Publication 1: Roberts NJ, Zhang L, Janku F, Collins A, Bai RY, Staedtke V, et al. Intratumoral injection of Clostridium novyi-NT spores induces antitumor responses. Sci Transl Med 6 (249), 249ra111 (2014)

Publication 2: Staedtke V, Bai RY, Laterra JJ. Investigational new drugs for brain cancer. Expert Opin Investig Drugs. 2016 Aug;25(8):937-56. doi: 10.1080/13543784.2016.1182497. (Review)

Publication 3: Staedtke V, Robert NJ, Bai RY, Zhou S. Clostridium novyi-NT in cancer therapy. Journal for Genes and Disease: Volume 3, Issue 2, June 2016, Pages 144–152 (Review)

Publication 4: Bai RY, Staedtke V, Xuwei X, Riggins GJ. Prevention of tumor seeding during needle biopsy by chemotherapeutic-releasing gelatin sticks. Oncotarget. 2017 Feb; 8(16): 25955-25962.

Publication 5:  Staedtke V, Bai RY, Blakeley JO. Cancer of the peripheral nerve in neurofibromatosis Type 1. (Review). Neurotherapeutics. 2017, 14: 298-306.

Dr.  Verena Staedtke received her MD/PhD from the Charite, Medical School of the Humboldt and Free University in Berlin (Germany).  Currently an Assistant Professor and Director of pediatric Neurofibromatosis at Johns Hopkins, she completed her pediatric neurology residency and UCNS neuro-oncology fellowship at Johns Hopkins. Dr. Staedtke’s spearheaded the use of the therapeutic “anti-cancer” agent Clostridium novyi-NT (C. novyi-NT), a genetically modified anaerobic bacterium, for the use in nervous system cancers, particularly glioblastomas and malignant peripheral​ nerve sheath tumors, the most common malignancy in NF1 patients. In addition, she is interested in immunotherapies and chemoprevention in NF1. In her free-time, Dr. Staedtke is an avid swimmer, painter and plays the piano, flute and ping-pong.

Narrative: Read about the project’s background, goals, specific aims, highlights, and preliminary results (auspices of Dr. Miriam Bornhorst, mbornhorst@childrensnational.org

Publication 1: Bornhorst M, Hwang EI. Experimental Therapeutic Trial Design for Pediatric Brain Tumors. J Child Neurol. 2016 Oct;31(12):1421-32.

Publication 2: Packer RJ, Pfister S, Bouffet E, Avery R, Bandopadhayay P, Bornhorst M, Bowers DC, Ellison D, Fangusaro J, Foreman N, Fouladi M, Gajjar A, Haas-Kogan D, Hawkins C, Ho CY, Hwang E, Jabado N, Kilburn LB, Lassaletta A, Ligon KL, Massimino M, Meeteren SV, Mueller S, Nicolaides T, Perilongo G, Tabori U, Vezina G, Warren K, Witt O, Zhu Y, Jones DT, Kieran M. Pediatric low-grade gliomas: implications of the biologic era. Neuro Oncol. 2016 Sep 28

Miriam Bornhorst, M.D., received training in Pediatrics and Hematology/Oncology through the University of Michigan followed by a Neurooncology fellowship at Children’s National Health System. She currently works as an assistant professor in Oncology and Cancer Genetics at Children’s National Health System in Washington, DC. Under the mentorship of Dr. Yuan Zhu, her primary research focus is the use of preventative therapy for optic pathway gliomas. She was awarded the Neurofibromatosis Therapeutic Acceleration Program’s Francis S. Collin’s Scholarship in 2016 and plans to use this opportunity to enhance her clinical and research knowledge in NF1. Through her work, her overall goal is early detection and management of tumors in patients with cancer predisposition syndromes. Outside of work, she spends most of her time with family, particularly enjoying outdoor activities (hiking, camping, fishing, canoeing)

Narrative: Read about the project’s background, goals, specific aims, and preliminary results (auspices of Dr. Peter de Blank, Peter.deBlank@UHhospitals.org)

Publication 1: de Blank PM, Fisher MJ, Lu L, Leisenring WM, Ness KK, Sklar CA, Stovall M, Vukadinovich C, Robison LL, Armstrong GT, Krull KR. (2016). Impact of Vision Loss Among Survivors of Childhood Central Nervous System Astroglial Tumors. Cancer 2016 Mar 1;122(5):730-9.

Publication 2: de Blank P, Berman JI, Fisher MJ. (2016). Systemic Chemotherapy and White Matter Integrity in Tracts Associated with Cognition Among Children with Neurofibromatosis Type 1. Pediatric Blood & Cancer 2016 May; 63(5):818-24

Publication 3: de Blank P, Ellika S, Kader M, Fisher MJ. Advanced Imaging in Optic Pathway Gliomas. In press (Journal of Pediatric Neuroradiology)

Peter de Blank, MD, MA, MSCE was a Francis S. Collins Scholar in NF Clinical and Translational Research from 2014-2016 and continues to receive funding for ongoing projects from NTAP.  He is also a current St. Baldrick’s Scholar.  He graduated from the University of California, San Francisco School of Medicine in 2005, and completed a Masters of Arts in English and American Literature at Stanford University, and a Master’s of Science in Clinical Epidemiology and Biostatistics at the University of Pennsylvania.  He completed residency in Pediatrics, and fellowships in Pediatric Hematology & Oncology and Pediatric Neuro-Oncology at the Children’s Hospital of Philadelphia. Dr. de Blank was a member of the faculty at Rainbow Babies & Children’s Hospital from 2012-2016 where he served as Scientific Director of the NF Clinic from 2014-2016. He joined the faculty at Cincinnati Children’s Hospital Medical Center in 2017 where is an Associate Professor in the division of Neuro-Oncology and leads efforts on cancer imaging in the Cancer & Blood Diseases Institute. His research focuses on the application of advanced MR techniques in children with NF1 and brain tumors.  He is interested in the characterization of novel MR sequences to investigate brain tumors, and the development of early radiographic biomarkers of functional complications of brain tumors and brain tumor therapy.  Dr. de Blank has two wonderful girls (Casey 8 years and Reed 6 years) and a wife he doesn’t deserve (Robin).  When he has free time, he remembers that he liked to play Ultimate Frisbee.

Narrative: Read about the project’s background, goals, aims, methods, and impact (auspices of Dr. Matthew Steenma’s, steensma@spectrumhealth.org)

Dr. Matthew Steensma received his B.A. from Hope College in Holland, Mich., and his M.D. from Wayne State University School of Medicine in Detroit, Mich. He subsequently completed internship and residency training in the Grand Rapids Orthopaedic Surgery Residency Program. After completing residency, he trained in the laboratories of Drs. George Vande Woude and Rick Hay at VARI under an Orthopaedic Research and Education Foundation training award. Subsequently, Dr. Steensma was admitted into the prestigious fellowship program in Musculoskeletal Surgical Oncology in the Department of Surgery at Memorial Sloan Kettering Cancer Center in New York where he obtained sub-specialty training in the surgical management of musculoskeletal tumors. His fellowship in New York also provided Dr. Steensma with the opportunity to work in the laboratory of Dr. Steve Goldring, Chief Scientific Officer of the Hospital for Special Surgery (HSS) in New York. Dr. Goldring is one of the world’s leading orthopaedic researchers and has a particularly strong reputation for training leading clinician-scientists. During his training with Dr. Goldring, Dr. Steensma further developed his interests in understanding the molecular and cellular mechanisms underlying the development of bone and soft-tissue sarcomas. Dr. Steensma joined Van Andel Research Institute in 2010 as an Associate Scientific Investigator in the Center for Skeletal Disease Research.