The NFRP Presents the Fiscal Year 2018 New Investigator Award Recipients

Posted October 15, 2019

Kristen Mills, Ph.D., Rensselaer Polytechnic Institute
Natalie Pride, Ph.D., Sydney Children's Hospitals Network
Carolina Barnett-Tapia, M.D., Ph.D., University Health Network
Matthew Steensma, M.D., Van Andel Research Institute
Frank Buono, Ph.D., Yale University

With the New Investigator Award (NIA), the Neurofibromatosis Research Program (NFRP) encourages the next generation of investigators, and their participation with the NF research community.  The NFRP NIA began in 1999 and since then 326 NIA applicants have submitted proposals 73 of which have been recommended for funding.  The NIA is designed to support the development of promising new independent investigators or established investigators transitioning from other career fields bringing new techniques and expertise to the NF field.  In fiscal year 2018, five NIAs were awarded.  The efforts of these five researchers are varied, spanning from in vitro models and omics experiments for studying NF1 tumors to studies aimed at enhancing quality of life for NF patients.  The NFRP is enthusiastic about supporting these investigators in performing their work and is looking forward to seeing their accomplishments for the NF community.

Kristen Mills, Ph.D., Rensselaer Polytechnic Institute
Dr. Kristen Mills,
Rensselaer Polytechnic Institute

Dr. Kristen Mills of Rensselaer Polytechnic Institute is using her background as a mechanical engineer to investigate the altered mechanosensing and force-generating capability of NF1- and NF2-haploinsufficient fibroblast cells.  Her work for the past few years has been focused on identifying the molecular pathways responsible for altered biomechanics associated with tumor development in NF1 and NF2.  With this NIA, her lab will quantify the mechanical properties of neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs) and use 3D in vitro models to investigate the mechanobiology of NF1 cells and tumor growth.  Her results may lead to the identification of new targets for NF1 treatment.

Natalie Pride, Ph.D., Sydney Children's Hospitals Network
Dr. Natalie Pride,
Sydney Children's Hospitals Network

Dr. Natalie Pride is a clinician-researcher at The Sydney Children’s Hospitals Network.  Dr. Pride has led investigations characterizing the social phenotype of NF1 and headed a pilot study that found that sleep disturbances in children with NF1 are linked to poorer academic achievement and reduced cognitive and adaptive functioning.  Dr. Pride’s newly funded NIA will focus on characterizing the sleep profile of children with NF1 utilizing a comprehensive medical and sleep history assessment.  This work will provide novel insight into the frequency of sleep disturbances and sleep disorders and identity the biopsychosocial and contextual factors contributing to poor sleep in NF1.  Her ultimate goal is to enhance quality of life for people with NF1.

Carolina Barnett-Tapia, M.D., Ph.D., University Health Network
Dr. Carolina Barnett-Tapia,
University Health Network

Dr. Carolina Barnett-Tapia of the University Health Network is using her background in clinical epidemiology to focus on patient-centered outcomes research for NF.  In a pilot study conducted by Dr. Barnett-Tapia, her team found lower scores on several measures of quality of life among patients with neurofibromatosis type 1 (NF1) compared with Canadian norms.  With this NIA, she will develop an algorithm to identify NF1 cases in Ontario using electronic medical records and then use this information to better understand the outcomes and health care needs of people with NF1.  This work will help to plan health care access and delivery for NF1 patients.

Matthew Steensma, M.D., Van Andel Research Institute
Dr. Matthew Steensma,
Van Andel Research Institute

Dr. Matthew Steensma of the Van Andel Research Institute is focused on identifying the mechanisms of drug resistance in MPNSTs and identifying and testing novel drug combinations that efficiently overcome resistance.  Dr. Steensma’s newly funded NIA will combine complementary analyses, including a novel targeted NF1 sequencing methodology, to understand the signaling architecture of MPNSTs and identify critical signaling that drive MPNST progression and therapeutic resistance.  These studies will aim to identify a novel combination therapy for MPNSTs and lay the groundwork for future studies on gene alterations and potential genetic biomarkers for MPNSTs.

Frank Buono, Ph.D., Yale University
Dr. Frank Buono,
Yale University

Dr. Frank Buono at Yale School of Medicine with his newly funded NIA will seek to understand the pain symptoms and experience of individuals with NF1 and adapt an existing mobile application (iCanCope) for NF patients.  The resulting mobile application (iCanCope-NF) will then be tested for feasibility and usability.  This application will attempt to facilitate new skills for people with NF1 and support them in their pain management.  Additionally, Dr. Buono is currently designing a multidisciplinary clinic for individuals with NF in collaboration with the Departments of Pediatrics and Internal Medicine within the Yale School of Medicine, along with local and regional NF advocacy organizations (NF Northeast and NF Network).  He is attempting to provide a comprehensive and patient-centered approach for helping individuals with NF. 


Links to Public and Technical Abstracts:

Characterization of the Biomechanical Heterogeneity of Neurofibromas and Malignant Peripheral Nerve Sheath Tumors
(Dr. Mills)

Prevalence, Nature, and Biopsychosocial Correlates of Sleep Disorders Among Children with Neurofibromatosis Type 1
(Dr. Pride)

Using Administrative Health Data to Identify Patients with NF1 in Ontario, Canada, and to Assess Prevalence, Mortality, and Health Care Utilization Patterns
(Dr. Barnett-Tapia)

Targeting P53-Associated Therapy Resistance in NF1-Related MPNSTs
(Dr. Steensma)

Innovation in the Treatment of Persistent Pain in Adults with NF1: Implementation of the iCanCope Mobile Application
(Dr. Buono)

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