Awarded Grants
Awarded Grants
CNS Protection from Hyperammonemia
Ljubica Caldovic
Children's National Health System
$43,000
Awardee: Ljubica Caldovic
Institution: Children's National Health System
Award Amount: $43,000
Funding Period: January 1, 2016 - December 31, 2016
Evaluating “exon‐skipping” as a strategy to repair the CFTR nonsense mutation
Christine Bear
SickKids Hospital-Toronto
$51,500
Awardee: Christine Bear
Institution: SickKids Hospital-Toronto
Award Amount: $51,500
Funding Period: January 1, 2016 - December 31, 2016
Systematic Evaluation of a Cluster of Nonsense Mutations in Exon 22 of CFTR to Inform Treatment (Copy)
Joseph Rutkowski
UT Southwestern Medical Center
51,500
Awardee: Garry Cutting
Institution: Johns Hopkins University School of Medicine
Award Amount: $69,000
Funding Period: January 1, 2016 - December 31, 2016
An open label N of 1 study to evaluate the safety and efficacy of long-term treatment with Ivacaftor in combination with ATALUREN (PTC124) in Subjects with Nonsense Mutation Cystic Fibrosis
Stephen Rowe
University of Alabama at Birmingham
51,500
Awardee: Stephen Rowe
Institution: University of Alabama at Birmingham
Award Amount: $51,500
Funding Period: January 1, 2016 - December 31, 2016
Role of microRNAs in the pathophysiology of bronchiolitis obliterans
Martin Rosewich
Goethe-University - Children's Hospital
50,500
Awardee: Martin Rosewich
Institution: Goethe-University - Children's Hospital
Award Amount: $50,500
Funding Period: January 1, 2016 - December 31, 2016
Mouse models of Fibrous Dysplasia (FD) as a tool for developing rational and effective therapies
Mara Riminucci
Sapienza University of Rome
58,500
Awardee: Mara Riminucci
Institution: Sapienza University of Rome
Award Amount: $58,500
Funding Period: January 1, 2016 - December 31, 2016
An shRNA based screening method for TSC synthetic lethal screens
Norbert Perrimon
Harvard Medical School
50,500
Awardee: Norbert Perrimon
Institution: Harvard Medical School
Award Amount: $50,500
Funding Period: January 1, 2016 - December 31, 2016
Nano-magnetic oils for the study of intestinal lymphatics in lymphangiomatosis
David Cormode
University of Pennsylvania
51,000
Awardee: David Cormode
Institution: University of Pennsylvania
Award Amount: $51,000
Funding Period: January 1, 2016 - December 31, 2016
Microstructural and functional MRI signatures in patients with MPS I
Igor Nestrasil
University of Minnesota
50,500
Awardee: Igor Nestrasil
Institution: University of Minnesota
Award Amount: $50,500
Funding Period: January 1, 2016 - December 31, 2016
A zebrafish platform for DMD drug-combination testing
Lisa Maves
Seattle Children's Research Institute
49,000
Awardee: Lisa Maves
Institution: Seattle Children's Research Institute
Award Amount: $49,000
Funding Period: January 1, 2016 - December 31, 2016
Exploring the impact of a TCF4 mutation on the physiology of inhibitory neurons of the prefrontal cortex.
Brady Maher
Lieber Insitute for Brain Development, Johns Hopkins School of Medicine
50,000
Awardee: Brady Maher
Institution: Lieber Insitute for Brain Development, Johns Hopkins School of Medicine
Award Amount: $50,000
Funding Period: January 1, 2016 - December 31, 2016
Characterization of NPC1-I1061T proteostasis machinery for development of NPC therapeutics
Andrew Lieberman
University of Michigan
53,500
Awardee: Andrew Lieberman
Institution: University of Michigan
Award Amount: $53,000
Funding Period: January 1, 2016 - December 31, 2016
TSC2 mutation analysis as a biomarker for lymphangioleiomyomatosis (LAM)
David Kwiatkowski
Brigham and Women's Hospital
50,500
Awardee: David Kwiatkowski
Institution: Brigham and Women's Hospital
Award Amount: $50,500
Funding Period: January 1, 2016 - December 31, 2016
Patient-Derived Phenotypic Assay to Discover Treatments for Tay-Sachs Disease
Marlene Jacobson
Temple University School of Pharmacy
43,000
Awardee: Marlene Jacobson
Institution: Temple University School of Pharmacy
Award Amount: $43,000
Funding Period: January 1, 2016 - December 31, 2016
Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA)
Maxim Itkin
University of Pennsylvania
101,000
Awardee: Maxim Itkin
Institution: University of Pennsylvania
Award Amount: $101,000
Funding Period: January 1, 2016 - December 31, 2016
Development of next-gen animal models for fibrous dysplasia (FD)/McCune-Albright syndrome (MAS)
J. Silvio Gutkind
University California San Diego, Moores Cancer Center
58,500
Awardee: J. Silvio Gutkind
Institution: University California San Diego, Moores Cancer Center
Award Amount: $58,500
Funding Period: January 1, 2016 - December 31, 2016
Optimizing Delivery and Endpoints of an AAV9-mediated Gene Therapy Trial in AMN
Florian Eichler
Massachusetts General Hospital, Harvard Medical School
50,000
Awardee: Florian Eichler
Institution: Massachusetts General Hospital, Harvard Medical School
Award Amount: $50,000
Funding Period: January 1, 2016 - December 31, 2016
Towards Precision Medicine in the Treatment of Congenital Hyperinsulinism in Infancy
Mark Dunne
University of Manchester
71,000
Awardee: Mark Dunne
Institution: University of Manchester
Award Amount: $71,000
Funding Period: January 1, 2016 - December 31, 2016
Systematic Evaluation of a Cluster of Nonsense Mutations in Exon 22 of CFTR to Inform Treatment
Garry Cutting
Johns Hopkins University School of Medicine
69,000
Awardee: Garry Cutting
Institution: Johns Hopkins University School of Medicine
Award Amount: $69,000
Funding Period: January 1, 2016 - December 31, 2016
Pain in RASopathies: new investigative techniques and treatments
Giuseppe Zampino
Università Cattolica Sacro Cuore
53,000
Awardee: Giuseppe Zampino
Institution: Università Cattolica Sacro Cuore
Award Amount: $53,000
Funding Period: January 1, 2016 - December 31, 2016