Awarded Grants
Awarded Grants
A humanised Drosophila melanogaster model of MPSIIIb to rapidly study central nervous system efficacy of combined chaperone and substrate reduction therapy
Emyr Lloyd-Evans
Cardiff University
$59,449
Awardee: Emyr Lloyd-Evans
Institution: Cardiff University
Award Amount: $59,449
Funding Period: January 1, 2018 - December 31, 2018
Novel alpha-glucosaminidase for Sanfilippo C syndrome
Patricia Dickson
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
$59,449
Awardee: Patricia Dickson
Institution: Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
Award Amount: $59,449
Funding Period: January 1, 2018 - December 31, 2018
Correction of splice mutations in Ataxia-Telangiectasia through novel antisense oligonucleotides
Oded/Anikster Regev/Yair
New York University
$65,689
Awardee: Oded/Anikster Regev/Yair
Institution: New York University
Award Amount: $65,689
Funding Period: January 1, 2018 - December 31, 2018
Mechanisms of mitochondrial toxicity in Snyder-Robinson Syndrome
Grace Zhai
University of Miami Miller School of Medicine
$42,866
Awardee: Grace Zhai
Institution: University of Miami Miller School of Medicine
Award Amount: $42,866
Funding Period: January 1, 2018 - December 31, 2018
Brain MRI signatures in infants with infantile forms of GM-1 and GM-2
Igor Nestrasil
University of Minnesota
$42,419
Awardee: Igor Nestrasil
Institution: University of Minnesota
Award Amount: $42,419
Funding Period: January 1, 2018 - December 31, 2018
Pilot study to identify small molecule activators of TCF4 as a treatment for Pitt-Hopkins syndrome
Benjamin Philpot
University of North Carolina, Chapel Hill
$49,263
Awardee: Benjamin Philpot
Institution: University of North Carolina, Chapel Hill
Award Amount: $49,263
Funding Period: January 1, 2018 - December 31, 2018
The neuropathology of CDKL5 disorder
Delia Talos
University of Pennsylvania SOM
$51,160
Awardee: Delia Talos
Institution: University of Pennsylvania SOM
Award Amount: $51,160
Funding Period: January 1, 2018 - December 31, 2018
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