Awarded Grants
Awarded Grants
Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome
Amanda Ackermann
Children's Hospital of Philadelphia
$84,080
Awardee: Amanda Ackermann
Institution: Children's Hospital of Philadelphia
Award Amount: $84,080
Funding Period: February 1, 2019 - January 31, 2020
Airway Cell Therapy for Cystic Fibrosis Nonsense Mutations
Nigel Farrow
University of Adelaide, South Australia, Australia.
$53,668
Awardee: Nigel Farrow
Institution: University of Adelaide, South Australia, Australia.
Award Amount: $53,668
Funding Period: February 1, 2019 - January 31, 2020
Zebrafish as model to analyze CDKL5 function
M. Leonor Cancela
University of Algarve/DCBM and Centre of Marine Sciences
$51,382
Awardee: M.Leonor Cancela
Institution: University of Algarve/DCBM and Centre of Marine Sciences
Award Amount: $51,382
Funding Period: February 1, 2019 - January 31, 2020
Establishing a Standard of Care Guideline for Angelman Syndrome
Anne Anderson
Baylor College of Medicine
$44,030
Awardee: Anne Anderson
Institution: Baylor College of Medicine
Award Amount: $44,030
Funding Period: February 1, 2019 - January 31, 2020
Profiling macrophage transcription in FOP
David Mosser
University of Maryland
$37,633
Awardee: David Mosser
Institution: University of Maryland
Award Amount: $37,633
Funding Period: February 1, 2019 - January 31, 2020
Skeletal stem cells to treat the bone defects of patients with Snyder-Robinson Syndrome
Fernando Fierro
University of California Davis
$54,774
Awardee: Fernando Fierro
Institution: University of California Davis
Award Amount: $54,774
Funding Period: February 1, 2019 - January 31, 2020
Expanding the Breadth of Metabolite Analysis for Snyder Robinson Syndrome
Tim Wood
Greenwood Genetic Center
$54,774
Awardee: Tim Wood
Institution: Greenwood Genetic Center
Award Amount: $54,774
Funding Period: February 1, 2019 - January 31, 2020
Preclinical studies of FDA-approved small-molecules implementing lysosomal activity in a mouse model of MPSIIIA
Diego Luis Medina
Telethon Institute of Genetics and Medicine (TIGEM)
$55,992
Awardee: Diego Luis Medina
Institution: Telethon Institute of Genetics and Medicine (TIGEM)
Award Amount: $$55,992
Funding Period: February 1, 2019 - January 31, 2020
Generation of lysosomal enzyme variants with enhanced therapeutic potential for the treatment of MPS
Alessandra Fraldi
Telethon Institute of Genetics and Medicine (TIGEM)
$55,992
Awardee: Alessandro Fraldi
Institution: Telethon Institute of Genetics and Medicine (TIGEM)
Award Amount: $$55,992
Funding Period: February 1, 2019 - January 31, 2020
Lipidomics biomarkers study of Mucolipidosis IV
Yulia Grishchuk
Massachusetts General Hospital
$68,992
Awardee: Yulia Grishchuk
Institution: Massachusetts General Hospital
Award Amount: $68,992
Funding Period: February 1, 2019 - January 31, 2020
The Mitochondrial Unfolded Protein Response: Roles in the Pathogenesis and Therapy of LAM
Hilaire Lam
Brigham and Women's Hospital, Harvard Medical School
$50,242
Awardee: Hilaire Lam
Institution: Brigham and Women's Hospital, Harvard Medical School
Award Amount: $50,242
Funding Period: February 1, 2019 - January 31, 2020
Single cell transcriptome analysis of skeletal stem cells derived from FD/MAS patients
Fernando Fierro
University of California Davis
$68,185
Awardee: Fernando Fierro
Institution: University of California Davis
Award Amount: $68,185
Funding Period: February 1, 2019 - January 31, 2020
Identification and characterization of novel cell-permeable, small molecule adenylyl cyclase inhibitors for future development as drugs to treat FD/MAS
Charles Hoffman
Boston College
$68,185
Awardee: Charles Hoffman
Institution: Boston College
Award Amount: $68,185
Funding Period: February 1, 2019 - January 31, 2020
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