Awarded Grants
Awarded Grants
Epigenetic Therapy to Treat Pitt-Hopkins Syndrome (PTHS)
Andrew Kennedy
Bates College
$49,263
Awardee: Andrew Kennedy
Institution: Bates College
Award Amount: $49,263
Funding Period: January 1, 2018 - December 31, 2018
AAVrh.10-mediated Npc2 Gene transfer for the treatment of Npc2 Deficient Niemann-Pick disease
Dolan Sondhi
Weill Cornell Medicine
$49,645
Awardee: Dolan Sondhi
Institution: Weill Cornell Medicine
Award Amount: $49,645
Funding Period: January 1, 2018 - December 31, 2018
Targeting molecular chaperone HSP90 to treat NPC1 disease
Nina Pipalia
Weill Cornell Medical College
$49,645
Awardee: Nina Pipalia
Institution: Weill Cornell Medical College
Award Amount: $49,645
Funding Period: January 1, 2018 - December 31, 2018
Exploring the therapeutic potential of RANKL inhibition in Fibrous Dysplasia of bone: studies on murine transgenic models of the disease.
Mara Riminucci
Sapienza University of Rome
$53,614
Awardee: Mara Riminucci
Institution: Sapienza University of Rome
Award Amount: $53,614
Funding Period: January 1, 2018 - December 31, 2018
Mechanistic study of WDR45 in the autophagy pathway and neurodegeneration
Hong Zhang
University of Massachusetts Medical School
$50,507
Awardee: Hong Zhang
Institution: University of Massachusetts Medical School
Award Amount: $50,507
Funding Period: January 1, 2018 - December 31, 2018
Health related quality of life for Egyptian children with Crigler-Najjar type1
Mortada Hassan Fakhri El-Shabrawi
Cairo University
$5,900.00
Awardee: Mortada Hassan Fakhri El-Shabrawi
Institution: Cairo University
Grant Amount: $5,900.00
Funding Period: September 01, 2017 - August 31, 2018
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