Posted September 17, 2021

Dr. Yang Hou, University of Kentucky
Dr. Steve Angus, Indiana University
Dr. Daniel Vogt, Michigan State University
Dr. Ina Ly, Massachusetts General Hospital
Dr. Miriam Bornhorst, Children’s Research Institute at Children’s National Medical Center

Each year the Neurofibromatosis Research Program (NFRP) aims to bring the next generation of investigators and their ideas to the Neurofibromatosis (NF) research community through the New Investigator Award (NIA). This award mechanism supports the development of promising new independent investigators or established investigators transitioning into the NF research community from other career fields. The NIA aims to bring investigators who can bring new techniques or expertise into the field of NF research. Since 1999, when the first NFRP NIA was awarded, 374 NIA applications have been received, of which 85 were recommended for funding. In fiscal year 2020, five NIAs were awarded. The research planned by these investigators addresses different NF research topic areas of interest, and all NIA researchers are bringing novel concepts to the NF research community.

Dr. Yang Hou of the University of Kentucky is studying the neurobehavioral phenotype of NF type 1 (NF1) using a large combined dataset and advanced data modeling. Specifically, Dr. Hou will analyze how neurobehavioral functioning develops across ages (i.e., neurobehavioral trajectories) and identify subpopulations of NF1 children with different profiles of various neurobehavioral problems (i.e., neurobehavioral profiles). She will also study biological/demographic predictors of neurobehavioral trajectories and neurobehavioral profiles in children with NF1. Additionally, she will examine how cognitive function relates to academic, behavioral, and socioemotional functioning in children with NF1.

Dr. Steve Angus of Indiana University is studying the modulation of a protein complex function (PRC2) and its relationship to NF1-related malignant peripheral nerve sheath tumor (MPNST) growth. He will elucidate protein kinome signatures in NF1 MPNSTs using a mouse model and observe how MPNST tumor growth responds to mitogen-activated protein kinase (MEK) inhibition. Dr. Angus will further identify genetic signatures using a knockout screening process within the context of MEK inhibition.

Dr. Daniel Vogt of Michigan State University proposes to study how sleep disruptions are elevated in NF1 patients and how the transcription factor, Lhx6, is related to cognitive manifestations. Specifically, his team will define the relationships between MEK, Lhx6, and underlying social and memory behaviors. They will also use a knockout mouse model to study how different brain regions contribute to sleep issues related to the RAS molecular pathway.

Dr. Ina Ly of Massachusetts General Hospital will develop clinically deployable models for predicting neurofibroma growth based on MRI features using deep learning. These models will be developed using a shared data repository from multiple centers and will be tested and compared in an independent patient cohort to determine how best to predict tumor growth in NF patients.

Dr. Miriam Bornhorst of Children’s Research Institute at Children’s National Medical Center will determine how NF1 affects lipid oxidation and how MEK inhibitor treatment influences metabolism and weight gain in the NF1 patient. Her team will begin by studying how MEK inhibitor treatment alters clinical metabolic factors using a mouse model and then further study these changes in an NF1 patient population by studying human blood and microbiome profiles.

Links:

Abstract for Dr. Hou

Public and Technical Abstracts: Using Big Data to Comprehensively Delineate the Neurobehavioral Phenotype of Children with Neurofibromatosis Type 1

Abstract for Dr. Angus

Public and Technical Abstracts: PRC2 Impact on the Functional Kinome in NF1-Related MPNST

Abstract for Dr. Vogt

Public and Technical Abstracts: Uncovering Mechanisms Underlying Cognitive Changes and Sleep in NF1

Abstract for Dr. Ly

Public and Technical Abstracts: Clinical and MRI Predictors of Internal Neurofibroma Growth in Neurofibromatosis Type 1

Abstract for Dr. Bornhorst

Public and Technical Abstracts: The Effect of MEK Inhibitor Treatment on Metabolism in Neurofibromatosis Type 1

Head Shot Credits:

Vogt: Harley J. Seeley Photography for Michigan State University

Angus: IUSM Visual Media

Yang: Vivian Abagiu

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