Awarded Grants
Awarded Grants
Pharmacologic rescue of telomere defects in dyskeratosis congenita
F. Brad Johnson
University of Pennsylvania
$48,191
Awardee: F. Brad Johnson
Institution: University of Pennsylvania
Award Amount: $48,191
Funding Period: January 1, 2018 - December 31, 2018
Targeting Endolysosomal Proteins to Treat RASopathies
Kartik Venkatachalam
McGovern Medical School, University of Texas Health Science Center at Houston
$47,189
Awardee: Kartik Venkatachalam
Institution: McGovern Medical School, University of Texas Health Science Center at Houston
Award Amount: $47,189
Funding Period: January 1, 2018 - December 31, 2018
A New Concept for Gene Delivery and Therapy in Cystic Fib
Robert Waymouth
Stanford University
$52,985
Awardee: Robert Waymouth
Institution: Stanford University
Award Amount: $52,985
Funding Period: January 1, 2018 - December 31, 2018
Functional dissection of CRB1 homophilic interactions in Retinitis pigmentosa
Toby Hurd
University of Edinburgh
$50,497
Awardee: Toby Hurd
Institution: University of Edinburgh
Award Amount: $50,497
Funding Period: January 1, 2018 - December 31, 2018
CRISPR/Cas9 nuclease design to target allele-specific Collagen VI mutations in patients' fibroblasts
Alessandra Recchia
University of Modena and Reggio Emilia
$41,831
Awardee: Alessandra Recchia
Institution: University of Modena and Reggio Emilia
Award Amount: $41,831
Funding Period: January 1, 2018 - December 31, 2018
Self-immolating NanoSpermine (nSpm) as a novel treatment approach to restore normal spermine/spermidine ratios in Snyder-Robinson Syndrome (SRS) models.
Robert Casero
John Hopkins University School of Medicine
$42,866
Awardee: Robert Casero
Institution: John Hopkins University School of Medicine
Award Amount: $42,866
Funding Period: January 1, 2018 - December 31, 2018
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