Awarded Grants
Awarded Grants
Neuronal determinants of CDKL5 deficiency disorder: neuropathological, genetic and molecular analysis of postmortem brains
Maurizio Giustetto
University of Torino
$51,160
Awardee: Maurizio Giustetto
Institution: University of Torino
Award Amount: $51,160
Funding Period: January 1, 2018 - December 31, 2018
Quantitative assessment of visual engagement in mucolipidosis type IV
Albert Misko
Massachusetts General Hosptial
$71,939
Awardee: Albert Misko
Institution: Massachusetts General Hosptial
Award Amount: $71,939
Funding Period: January 1, 2018 - December 31, 2018
Targeting transcription in LAM
David Kwiatkowski
Brigham and Women's Hospital/Harvard
$50,060
Awardee: David Kwiatkowski
Institution: Brigham and Women's Hospital/Harvard
Award Amount: $50,060
Funding Period: January 1, 2018 - December 31, 2018
A longitudinal single cell genomic analysis of HHV8-negative multicentric Castleman Disease
Robert Ohgami
Stanford University
$42,508
Awardee: Robert Ohgami
Institution: Stanford University
Award Amount: $42,508
Funding Period: January 1, 2018 - December 31, 2018
A natural history study of beta-propeller protein-associated neurodegeneration (BPAN)
Hong Zhang
University of Massachusetts Medical School
$50,507
Awardee: Penelope Hogarth
Institution: Oregon Health & Science University
Award Amount: $50,507
Funding Period: January 1, 2018 - December 31, 2018
The impact of estrogen-promoted extracellular matrix-degrading programs on LAM progression
Jane Yu
University of Cincinnati College of Medicine
$50,060
Awardee: Jane Yu
Institution: University of Cincinnati College of Medicine
Award Amount: $50,060
Funding Period: January 1, 2018 - December 31, 2018
Testing APBD drug candidates for restoration of multiple cell features and geneexpression profile
Or Kakhlon
Hadassah Medical Organization
$52,978
Awardee: Or Kakhlon
Institution: Hadassah Medical Organization
Award Amount: $52,978
Funding Period: January 1, 2018 - December 31, 2018
Could restoring GBE in affected tissues be a treatment for APBD?
Hasan Orhan Akman
Columbia University Medical Center
$52,978
Awardee: Hasan Orhan AKMAN
Institution: Columbia University Medical Center
Award Amount: $52,978
Funding Period: January 1, 2018 - December 31, 2018
Exploring a novel means of regulating Glut1 expression, and its therapeutic implications.
Umrao Monani
Columbia University
$48,918
Awardee: Umrao Monani
Institution: Columbia University
Award Amount: $48,918
Funding Period: January 1, 2018 - December 31, 2018
Multicenter Cross Standardization of Magnetic Resonance Imaging Methods for Adrenoleukodystrophy/Adrenomyeloneuropathy
S. Ali Fatemi
Kennedy Krieger, Johns Hopkins University
$101,164
Awardee: S. Ali Fatemi
Institution: Kennedy Krieger, Johns Hopkins University
Award Amount: $101,164
Funding Period: January 1, 2018 - December 31, 2018
Retrospective analysis of the safety and efficacy of lymphatic anomalies of the bone(Generalized Lymphatic anomaly GLA, Gorham Stout Disease GSD, CTLM)treated with mTOR inhibition and bisphosphonates.
Denise Adams
Boston Children's Hospital
$52,109
Awardee: Denise Adams
Institution: Boston Children's Hospital
Award Amount: $52,109
Funding Period: January 1, 2018 - December 31, 2018
Mechanistic and Therapeutic Studies of Fibrous Dysplasia in a New Mouse Model
Mara Riminucci
Sapienza University of Rome
$53,614
Awardee: Yingzi Yang
Institution: Harvard School of Dental Medicine
Award Amount: $53,614
Funding Period: January 1, 2018 - December 31, 2018
Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Individuals with Congenital Hyperinsulinism – A Pilot Study
Diva De Leon-Crutchlow
University of Pennsylvania/Children's Hospital of Philadelphia
$87,109
Awardee: Diva De Leon-Crutchlow
Institution: University of Pennsylvania/Children's Hospital of Philadelphia
Award Amount: $87,109
Funding Period: January 1, 2018 - December 31, 2018
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