Awarded Grants
Awarded Grants
Urokinase as a potential biomarker and target in LAM
Victoria Stepanova
University of Pennsylvania
$50,000
Awardee: Victoria Stepanova
Institution: University of Pennsylvania
Award Amount: $50,000
Funding Period: January 1, 2017 - December 31, 2017
Carboxyl lysosphingomyelin as a Biomarker for Diagnosis and Assessment of Treatment of NPC Disease
Xuntian Jiang
Washington University School of Medicine
$51,000
Awardee: Xuntian Jiang
Institution: Washington University School of Medicine
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017
The Role of Regulatory T cells in the Pathogenesis and Therapy of LAM
Elizabeth Henske
Brigham and Women's Hospital
$50,000
Awardee: Elizabeth Henske
Institution: Brigham and Women's Hospital
Award Amount: $50,000
Funding Period: January 1, 2017 - December 31, 2017
Known and novel members of the endolysosomal transportome/channelome as candidates to rescue loss of TRPML1 function in MLIV patients
Christian Michael Grimm
University of Munich, LMU
$40,000
Awardee: Christian Michael Grimm
Institution: University of Munich, LMU
Award Amount: $40,000
Funding Period: January 1, 2017 - December 31, 2017
Gene-edited stem cells for modeling rare mutations in cystic fibrosis (CF)
Amy Firth
University of Southern California
$63,000
Awardee: Amy Firth
Institution: University of Southern California
Award Amount: $63,000
Funding Period: January 1, 2017 - December 31, 2017
Modelling osteogenesis of Snyder-Robinson patients by targeting Spermine Synthase using CRISPR/Cas9 in human bone marrow derived mesenchymal stem cells
Fernando Fierro
University of California, Davis
$53,000
Awardee: Fernando Fierro
Institution: University of California, Davis
Award Amount: $53,000
Funding Period: January 1, 2017 - December 31, 2017
Genomic analysis of idiopathic multicentric Castleman disease
Kojo Elenitoba-Johnson
University of Pennsylvania
$43,000
Awardee: Kojo Elenitoba-Johnson
Institution: University of Pennsylvania
Award Amount: $43,000
Funding Period: January 1, 2017 - December 31, 2017
Biodistribution of Intrathecal AAV9-mediated Gene Therapy in AMN
Florian Eichler
Massachusetts General Hospital
$100,000
Awardee: Florian Eichler
Institution: Massachusetts General Hospital
Award Amount: $100,000
Funding Period: January 1, 2017 - December 31, 2017
Understanding neurogenesis in MPS IIIA disease
Ainslie Derrick-Roberts
SA Pathology
$52,000
Awardee: Ainslie Derrick-Roberts
Institution: SA Pathology
Award Amount: $52,000
Funding Period: January 1, 2017 - December 31, 2017
Understanding the molecular and cellular defects of bone remodelling in patients affected by Gorham-Stout disease (GSD)
Andrea Del Fattore
Bambino Gesù Children’s Hospital, IRCCS
$59,000
Awardee: Andrea Del Fattore
Institution: Bambino Gesù Children’s Hospital, IRCCS
Award Amount: $59,000
Funding Period: January 1, 2017 - December 31, 2017
Rescue of cardiac nicotinamide adenine dinucleotide (NAD+) content improves cardiac function in dilated cardiomyopathy in CMD caused by lamin A/C gene
Antoine Muchir
Center of Research in Myology UPMC
$47,000
Awardee: Antoine Muchir
Institution: Center of Research in Myology UPMC
Award Amount: $47,000
Funding Period: January 1, 2017 - December 31, 2017
Exploring the postnatal requirement of the brain for the Glut1 protein
Umrao Monani
Columbia University
$40,000
Awardee: Umrao Monani
Institution: Columbia University
Award Amount: $40,000
Funding Period: January 1, 2017 - December 31, 2017
Gene-edited stem cells for modeling rare mutations in cystic fibrosis (CF)
Amy Firth
University of Southern California
$63,000
Awardee: Amy Firth
Institution: University of Southern California
Award Amount: $53,000
Funding Period: January 1, 2017 - December 31, 2017
Rational Design of Effective Therapeutics for Treatment of the 1282X CFTR Disorder
Cooperman
University of Pennsylvania
$53,000
Awardee: Cooperman
Institution: University of Pennsylvania
Award Amount: $53,000
Funding Period: January 1, 2017 - December 31, 2017
The efficacy of guaifenesin in the treatment of adult polyglucosan body disease
Akman Hasan
Columbia University Medical Center
$50,500
Awardee: Akman Hasan
Institution: Columbia University Medical Center
Award Amount: $50,500
Funding Period: January 1, 2017 - December 31, 2017
Treatment of adult polyglucosan body disease caused by an intronic mutation in glycogen branching enzyme gene.
Akman Hasan
Columbia University Medical Center
$50,500
Awardee: Akman Hasan
Institution: Columbia University Medical Center
Award Amount: $50,500
Funding Period: January 1, 2017 - December 31, 2017
A multi-center, prospective, minimal intensity BMT trial for dyskeratosis congenita
Agarwal Suneet
Boston Children's Hospital
$51,000
Awardee: Agarwal Suneet
Institution: Boston Children's Hospital
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017
Impact on Niemann-Pick C disease of the cross-talk between the c-Abl and the TFEB signaling pathways
Silvana Zanlugo
Pontificia Universidad Católica de Chile
$51,000
Awardee: Silvana Zanlugo
Institution: Pontificia Universidad Católica de Chile
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017
Establishing 3-Dimensional (3D) Retinal Optic Cups using patient-specific CRB1 Induced Pluripotent Stem Cells.
Jason Mills
University of Pennsylvania
50,500
Awardee: Jason Mills
Institution: University of Pennsylvania
Award Amount: $50,500
Funding Period: January 1, 2017 - December 31, 2017
Identification of direct target genes of TCF4 in neurons
Tonis Timmusk
Tallinn University of Technology
$51,000
Awardee: Tonis Timmusk
Institution: Tallinn University of Technology
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017