FY 2021
Research Grant Awards
Nicola Alesi, MD, PhD
Brigham and Women’s Hospital
Role of TFEB in the pathogenesis and therapy of TSC kidney manifestations
Gerta Hoxhaj, PhD
UT Southwestern
Defining the genetic factors that mediate purine signals to the TSC network
Philip Iffland, PhD
University of Maryland School of Medicine
Amino acid modulation as a therapeutic strategy for TSC-associated epilepsy
TSC-DSC Clinical Fellowship
Felix Chan, PhD
Brown University
Lysine metabolism in tuberous sclerosis complex
Innovation Workshop: Newborn Screening Assay Development Awards
Michael Gelb, PhD
University of Washington
Proteomic assay for newborn screening of tuberous sclerosis complex
Carmen Priolo, MD, PhD
Brigham and Women’s Hospital
Application of glycomics to identify early biomarkers of TSC
TSC Biosample Seed Grant Awards
Joseph Bateman, BSc, PhD
King’s College London
Identification of novel mTOR targets in the TSC brain
Mark Keezer, MDCM, PhD
Centre Hospitalier de l’Université de Montréal
Biomarkers for epilepsy and renal angiomyolipomas among people with TSC
Hywel Williams, BSc, PhD
Cardiff University
Using Spatial-Transcriptomics to define gene expression profile of SEGAs in tuberous sclerosis complex
FY 2020
Postdoctoral Fellowship Award
Bipan Deb, PhD
University of California, Berkeley
Investigating the origins of tubers using human cortical organoids
Katarzyna Klonowska, PhD
Brigham and Women’s Hospital
Polyclonal somatic mutations drive TSC tumorigenesis
Research Grant Award
Robert Carson, MD, PhD
Vanderbilt University
Therapeutic benefits of nonsense suppression in TSC
Keith Hall Memorial Research Grant Award
Oded Volovelsky, MD, PhD
Hadassah Medical Center, Israel
Targeting the Endocannabinoid System in TSC-induced kidney disease
TSC Biosample Repository Seed Grant
John J. Bissler, MD
University of Tennessee Health Sciences Center
Role of extracellular vesicles in TSC
Elaine Dunlop, BSc, PhD
Cardiff University
Investigating EV-associated RNA as a biomarker in tuberous sclerosis complex
Krinio Giannikou, PhD
Brigham and Women’s Hospital
A multi-omics platform to identify novel non-invasive diagnostic and prognostic biomarkers in TSC patients
FY 2019
Postdoctoral Fellowship Award
Ilaria Barone, PhD
Children’s Hospital, Boston
Harnessing the circadian clock to modulate TSC-related neuronal phenotypes
Elodie Villa, PhD
Northwestern University
Defining the molecular epigenetic signature downstream of mTORC1 signaling
Research Grant Award
Mustafa Sahin, MD, PhD
Children’s Hospital, Boston
Non-cell autonomous mechanisms of epilepsy in TSC2
Clinical Research Network Grant Award
Darcy A. Krueger, MD, PhD
Cincinnati Children’s Hospital Medical Center
Stopping TSC Onset and Progression 2 (STOP-2): Epilepsy prevention in TSC infants
Mustafa Sahin, MD, PhD
Children’s Hospital, Boston
Rare Diseases Clinical Research Consortium
TSC Biosample Repository Seed Grant
Carmen Priolo, MD, PhD
Brigham and Women’s Hospital, Inc.
Identification of immunogenic structures of the TSC glycome through glycan microarrays
Paul Dutchak, PhD
Université Laval
Novel approaches to treat TSC
FY 2018
Postdoctoral Fellowship Award
Christine Ochoa Escamilla, PhD
University of Texas Southwestern Medical Center
Neural Circuits Underlying Autism-Related Behaviors in Tuberous Sclerosis
Keith Hall Research Grant Award
Research Grant Award
Angélique Bordey, PhD
Yale University
Non-Cell Autonomous Effects in TSC Brain Malformations
Alan Dombkowski, PhD
Wayne State University
The Role of Exosomes in Epilepsy of TSC
TSC Biosample Repository Seed Grant
Laura S. Farach, MD
The University of Texas Health Science Center at Houston
Developing a Genetic Risk Prediction Model for Epilepsy in Patients with TSC
Hilaire C. Lam, PhD
Brigham and Women’s Hospital
Mitochondrial DNA Heteroplasmy in the Pathogenesis and Therapy of TSC
Joana Marques, PhD
University of Porto – Faculty of Medicine
Epigenetic and Transcriptional Analysis of TSC2 in Leukocyte DNA from Tuberous Sclerosis Patients
Jane J. Yu, PhD
University of Cincinnati
Quantification of Plasma Levels of Sphingolipids and Ceramides in Patients with TSC
FY 2017
Research Grant Award
Michael Evans, PhD
University of California, San Francisco
Developing New Ablative Therapies to Treat Tuberous Sclerosis Complex
Mark Thomas, PhD and Rosemary Ekong, PhD
University College London
The TSC1 and TSC2 Variation Database
Postdoctoral Fellowship Award
Peter Davis, MD
Children’s Hospital Boston
Brain Network Biomarkers of Epilepsy Development in TSC
You Feng, PhD
Brigham and Women’s Hospital
Dysregulated Phosphatidylcholine Metabolism in TSC and LAM Pathogenesis and Therapy
Keith Hall Research Grant Award
Co-funded with The LAM Foundation
FY 2016
Research Grant Award
Peter Davis, MD
Children’s Hospital Boston
Brain Network Biomarkers of Epilepsy Development in TSC
Jonathan Lipton, MD, PhD
Children’s Hospital Boston
The Circadian Clock as a Capacitor for TSC-related Phenotypes
Mark Nellist, PhD
Erasmus Universitair Medisch Centrum Rotterdam
Functional characterization of TSC1 and TSC2 variants associated with TSC
Sue Povey, MD, MA
University College London, London, UK
The TSC1 and TSC2 variation database
Co-funded with the Tuberous Sclerosis Association (UK)
Carmen Priolo, MD, PhD
Brigham and Women’s Hospital
Targeting the Lysophosphatidic Acid Pathway in Tuberous Sclerosis Complex
Postdoctoral Fellowship Award
Heng-Jia Liu, PhD
Brigham and Women’s Hospital
T-Cell Dysfunction in TSC: Mechanisms and Targeted Therapy
Peter Tsai, MD, PhD
UT Southwestern Medical Center
Impact of Cerebellar – Medial Prefrontal Cortical Circuits
FY 2015
Postdoctoral Fellowship Award
Polina Kosillo, DPhil
Sponsor: Helen Bateup, PhD
University of California, Berkeley
The impact of Tsc1 deletion on dopamine neurons
Research Grant Award
Mustafa Sahin, MD, PhD
Boston Children’s Hospital
Sonic hedgehog and ciliary signaling in TSC
Andrew Tee, PhD
Cardiff University
Analysis of novel therapies and survival mechanisms in TSC2 deficient cells
Rothberg Courage Award
Brendan Manning, PhD
Harvard University School of Public Health
Repurposing Approved Inhibitors of Purine Synthesis for TSC Treatment
FY 2014
Postdoctoral Fellowship Award
Gerta Hoxhaj, PhD
Sponsor: Brendan Manning, PhD
Harvard University School of Public Health, Boston, MA
Role of the TSC complex component TBC1D7 in cell migration and invasion
Gina Lee, PhD
Sponsor: John Blenis, PhD
Weill Cornell Medicine, New York, NY
mTORC1-mediated mRNA alternative splicing in tuberous sclerosis and LAM
Research Grant Award
Gabriella D’Arcangelo, PhD
Rutgers University, New Brunswick, NJ
Developing TSC patient-derived NPCs
Michael Higley, MD, PhD
Yale University, New Haven, CT
Analysis and treatment of altered cortical network dynamics in TSC
Sue Povey, MD, MA
University College London, London, UK
The TSC1 and TSC2 variation database
Co-funded with the Tuberous Sclerosis Association (UK)
Wei Shi, MD, PhD
Children’s Hospital, Los Angeles, CA
Lung mesenchymal TSC2 deletion in TSC lung disease
TSC Clinical Research Consortium
Mustafa Sahin, MD, PhD
Boston Children’s Hospital, Boston, MA
Administrative Core Support for Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations
Five initial consortium sites received seed funding from the TSC Alliance and two NIH grants for clinical studies to identify markers of risk for autism and infantile spasms in TSC. They are:
- Boston Children’s Hospital
- Cincinnati Children’s Hospital Medical Center
- University of Alabama, Birmingham
- University of California, Los Angeles
- University of Texas, Houston
FY 2013
Research Grant Award
Rebecca Ihrie, PhD
Vanderbilt University, Nashville, TN
Dissecting the effects of stem cell patterning on subependymal tumors
David Kwiatkowski, MD, PhD
Brigham and Women’s Hospital, Boston, MA
EPISTOP: clinical and molecular biomarkers of epilepsy in TSC
Co-funded with the European Commission
Carmen Priolo, MD, PhD
Brigham and Women’s Hospital, Boston, MA
Aberrant lipid metabolism in TSC diagnostics and therapeutics
FY 2012
Postdoctoral Fellowship Award
Jing Jeannie Li, PhD
Sponsor: John Blenis, PhD
Harvard Medical School, Boston, MA
Identification and development of metabolism inhibitors as a therapeutic strategy for tuberous sclerosis complex
Research Grant Award
Sue Povey, MD, MA
University College London, London, UK
The TSC1 and TSC2 variation database
TSC Alliance Rothberg Courage Award in Research
Mustafa Sahin, MD, PhD
Boston Children’s Hospital, Boston, MA
TSC Neurocognitive Clinical Trial Recruitment Acceleration Award
Darcy Krueger, MD, PhD
Cincinnati Children’s Hospital and Medical Center, Cincinnati, OH
TSC Neurocognitive Clinical Trial Recruitment Acceleration Award
TSC Clinical Research Consortium
Five initial consortium sites received seed funding from the TSC Alliance and two NIH grants for clinical studies to identify markers of risk for autism and infantile spasms in TSC
- Boston Children’s Hospital
- Cincinnati Children’s Hospital Medical Center
- University of Alabama, Birmingham
FY 2011
Postdoctoral Fellowship Award
Brian Siroky, PhD
Sponsor: John Bissler, MD
Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Endoplasmic Reticulum Stress in the Pathogenesis and Treatment of TSC Renal Cystic Disease
Magdalena Tyburczy, PhD
Sponsor: David Kwiatkowski, MD, PhD
Brigham and Women’s Hospital, Boston, MA
Determining the Molecular Pathogenesis of TSC in No Mutation Identified (NMI) Patients
TSC Drug Screening Program
Seok-Hyung Kim, PhD
Vanderbilt University Medical Center, Nashville, TN
High-throughput Chemical Screening for compounds reversing TSC phenotypes in vivo using tsc2 mutant zebrafish
Mustafa Sahin, MD, PhD
Children’s Hospital Boston, Boston, MA
High Throughput Screening of Chemical Libraries in Primary Neurons
TSC Alliance Rothberg Courage Award in Research
Elizabeth Henske, MD
Brigham and Women’s Hospital, Boston, MA
Targeting Autophagy and Cellular Metabolism for the Treatment of TSC
John Bissler, MD
Cincinnati Children’s Hospital and Medical Center, Cincinnati, OH
MRI-Guided High Intensity Focused Ultrasound for TSC-Associated Renal and Pulmonary Disease
Hope Northrup, MD
University of Texas Health Science Center at Houston, Houston, TX
Identifying Additional Gene(s) That Cause Tuberous Sclerosis Complex by Whole Genome Sequencing
FY 2010
Postdoctoral Fellowship Award
Samira Bahl, PhD
Sponsor: Vijaya Ramesh, PhD
Massachusetts General Hospital, Boston, MA
Elucidating the Role of Structural Variations in Autism Associated with Tuberous Sclerosis Complex
Alessia Di Nardo, PhD
Sponsor: Mustafa Sahin, MD, PhD
Children’s Hospital, Harvard Medical School, Boston, MA
Regulation of Autophagy in Tuberous Sclerosis Complex
Cary Fu, MD
Sponsor: Kevin Ess, MD, PhD
Vanderbilt University, Nashville, TN
The Role of the Tsc1 Gene in Interneuron Differentiation and Migration
TSC Drug Screening Program
Aristotelis Astrinidis, PhD
Drexel University College of Medicine, Philadelphia, PA
Screen of FDA-Approved Drugs as a Therapeutic Approach for Tuberous Sclerosis Complex
John Frangioni, MD, PhD
Beth Israel Deaconess Medical Center, Boston, MA
Quantitation of In Vivo Response in TSC Tumors: A National Resource of the TSC Alliance
TSC Alliance Rothberg Courage Award in Research
Mustafa Sahin, MD, PhD
Children’s Hospital, Harvard Medical School, Boston, MA
TSC Neurocognitive Clinical Trial
Robert and Lisa Moss
Seizure Tracker, LLC, Alexandria, VA
Development and Implementation of an Epilepsy Clinical Trial Tool
FY 2009
Postdoctoral Fellowship Award
June Goto, PhD
Sponsor: David Kwiatkowski, MD, PhD
Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
Generation and Characterization of Genetic Models for Cortical Tubers
Johnathan Lipton, MD, PhD
Sponsor: Mustafa Sahin, MD, PhD
Children’s Hospital, Boston, and Harvard Medical School, Boston, MA
Toward the Molecular Basis for Sleep Disorders in Tuberous Sclerosis Complex: The Circadian Link
Jean-Claude Platel, PhD
Sponsor: Angelique Bordey, PhD
Yale University School of Medicine, New Haven, CT
Contributions of Neonatal Neural Progenitors to TSC Lesions
Wei Qin, PhD
Sponsor: David Kwiatkowski, MD, PhD
Brigham and Women’s Hospital, Harvard School of Medicine, Boston, MA
High Throughput Sequencing for Mutation Identification in TSC Genes
Yonghao Yu, PhD
Sponsor: John Blenis, PhD
Harvard Medical School, Boston, MA
Characterization of the mTOR Signaling Pathways Using Quantitative Mass Spectrometry
TSC Innovator Award
Guy McKhann, II, MD
Columbia University Medical Center, New York City, NY
Aberrant Astrocytic Control of Neuronal Excitability in Tuberous Sclerosis: A Potential Therapeutic Target in TSC Epileptic Syndrome
Howard Weiner, MD
New York University Medical Center, New York, NY
Defining the Epileptogenic Zone in Tuberous Sclerosis Complex: Microelectrode Recordings in Children with Intractable Epilepsy and TSC
Raymond Yeung, MD
University of Washington, Seattle, WA
Glucose Restriction in TSC
TSC Alliance Rothberg Courage Award in Research
Frank McCormack, MD & Bruce Trapnell, MD
University of Cincinnati, Cincinnati, OH
MILES Trial
TSC Alliance Conference Grant
Petrus de Vries, MBChB, MRCPsych, PhD
Cambridge University & Society for the Study of Behavioural Phenotypes (SSBP), Cambridge, UK
Listening to Genetic Disorders: The Etiology and Treatment of Neurodevelopmental Disorders
TSC Alliance Supplemental Funding Award
Sandra Dabora, MD, PhD
Brigham & Women’s Hospital, Boston, MA
Supplement for TSC Preclinical Studies and Clinical Trials
FY 2008
Postdoctoral Fellowship Award
Linda DiBella, PhD
Sponsor: Zhaoxia Sun, PhD
Yale University, New Haven, CT
Investigating a Link Between the Cilium and the TSC/mTOR Pathway
Cheryl Doughty, PhD
Sponsor: David Kwiatkowski, MD, PhD
Brigham & Women’s Hospital, Boston, MA
Investigation of TSC2 Missense Mutations
Junior Investigator Award
Kevin Ess, MD, PhD
Vanderbilt University, Nashville, TN
Role of the Tuberin GAP Domain in Neural Progenitor Cells
Shao-Jun Tang, PhD
University of California, Irvine, CA
Roles of TSC2 in Regulation of Dendritic Protein Synthesis and Synaptic Plasticity
Senior Investigator Award
Michael Wong, MD, PhD
Washington University, St. Louis, MO
Rational Therapy for Neurological Manifestations in a Mouse Model of TSC
TSC Alliance Rothberg Courage Award in Research
Frank McCormack, MD & Bruce Trapnell, MD
University of Cincinnati, Cincinnati, OH
MILES Trial
Other Funding
NIH Grant Award, Co-Funded by the National Cancer Institute, National Institutes of Health and the TSC Alliance
Arnold Kristof, MDCM
McGill University, Montreal, Quebec, Canada
mTOR-containing Protein Complexes in the Pathogenesis of Tuberous Sclerosis
PKD/TSC Research Award co-funded by the TSC Alliance and the PKD Foundation
Elizabeth Petri Henske, MD
Fox Chase Cancer Center, Philadelphia, PA
Roles of Tuberin (TSC2) and Rheb in Cystic Kidney Disease
Cheryl Walker, PhD
M.D. Anderson Cancer Center, University of Texas, Smithville, TX
C-SRC Regulation of the Functional PKD-1 TSC2 Interaction
FY 2007
TSC Alliance Rothberg Courage Award in Research
Frank McCormack, MD & Bruce Trapnell, MD
University of Cincinnati, Cincinnati, OH
MILES Trial
FY 2002 – 2005
TSC Alliance Rothberg Courage Award in Research
John Blenis, PhD
Lewis Cantley, PhD
Iswar Hariharan, MBBS, PhD
David Kwiatkowski, MD, PhD
Timothy Mitchison, PhD
Harvard Medical School and Brigham & Women’s Hospital, Boston, MA
Role of the TSC1/2 Complex in Regulation of the mTOR Pathway
David Austin, PhD
Yale University, New Haven, CT
Screening of Potential Therapeutics for TSC
Tian Xu, PhD
Yale University, New Haven, CT
Role of the TSC/Insulin Signaling Pathway in the Pathogenesis of TSC
Elizabeth Petri Henske, MD
Fox Chase Cancer Center, Philadelphia, PA
Effects of Estrogen and Progesterone on Angiomyolipoma Growth and Migration