Awarded Grants
Awarded Grants
The use of a patient-centric neuronal cell model of Beta-Propeller Protein-Associated Neurodegeneration (BPAN) as a platform to develop novel therapies
Robin Ketteler
UCL MRC Laboratory for Molecular Cell Biology
$51,020
Awardee: Robin Ketteler
Institution: UCL MRC Laboratory for Molecular Cell Biology
Award Amount: $51,020
Funding Period: February 1, 2019 - January 31, 2020
Mechanistic study of WDR45/45B and their binding partner ATG2 in the autophagy pathway of neural cells
Hong Zhang
University of Massachusetts Medical School
$51,020
Awardee: Hong Zhang
Institution: University of Massachusetts Medical School
Award Amount: $51,020
Funding Period: February 1, 2019 - January 31, 2020
Biomarker correlates of neurocognitive outcomes in the cerebrospinal fluid in MPS I
Julie Eisengart
University of Minnesota
$103,560
Awardee: Julie Eisengart
Institution: University of Minnesota
Award Amount: $103,560
Funding Period: February 1, 2019 - January 31, 2020
Therapeutic screen for DNA damage in A-T patient derived motor neurons.
Edward Gilmore
Case Western Reserve University School of Medicine
$87,164
Awardee: Edward Gilmore
Institution: Case Western Reserve University School of Medicine
Award Amount: $87,164
Funding Period: February 1, 2019 - January 31, 2020
Pharmacological, histological and metabolic analyses of a new drug candidate for APBD
Or Kakhlon
Hadassah-Hebrew University Medical Center
$53,455
Awardee: Or Kakhlon
Institution: Hadassah-Hebrew University Medical Center
Award Amount: $53,455
Funding Period: February 1, 2019 - January 31, 2020
Elucidating the Role of GNAS Mosaicism in Fibrous Dysplastic Lesions
Kelly Wentworth
The University of California, San Francisco
$68,185
Awardee: Kelly Wentworth
Institution: The University of California, San Francisco
Award Amount: $68,185
Funding Period: February 1, 2019 - January 31, 2020
Autoantibody Discovery in Castleman Disease Using Multiplexed Assays
Paul Utz
Board of Trustees of the Leland Stanford Junior University
$102,150
Awardee: Paul Utz
Institution: Board of Trustees of the Leland Stanford Junior University
Award Amount: $102,150
Funding Period: February 1, 2019 - January 31, 2020
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