Awarded Grants
Awarded Grants
Treatment of adult polyglucosan body disease caused by an intronic mutation in glycogen branching enzyme gene.
Akman Hasan
Columbia University Medical Center
$50,500
Awardee: Akman Hasan
Institution: Columbia University Medical Center
Award Amount: $50,500
Funding Period: January 1, 2017 - December 31, 2017
A multi-center, prospective, minimal intensity BMT trial for dyskeratosis congenita
Agarwal Suneet
Boston Children's Hospital
$51,000
Awardee: Agarwal Suneet
Institution: Boston Children's Hospital
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017
Impact on Niemann-Pick C disease of the cross-talk between the c-Abl and the TFEB signaling pathways
Silvana Zanlugo
Pontificia Universidad Católica de Chile
$51,000
Awardee: Silvana Zanlugo
Institution: Pontificia Universidad Católica de Chile
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017
Establishing 3-Dimensional (3D) Retinal Optic Cups using patient-specific CRB1 Induced Pluripotent Stem Cells.
Jason Mills
University of Pennsylvania
50,500
Awardee: Jason Mills
Institution: University of Pennsylvania
Award Amount: $50,500
Funding Period: January 1, 2017 - December 31, 2017
Identification of direct target genes of TCF4 in neurons
Tonis Timmusk
Tallinn University of Technology
$51,000
Awardee: Tonis Timmusk
Institution: Tallinn University of Technology
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017
Neurophysiological correlates in CDKL5 syndrome: a supplement to the NIH Natural History Study of Rett syndrome, CDKL5 syndrome, and other Rett syndrome-related disorders
Eric Marsh and Tim Benke
University of Colorado and CHOP
53,500
Awardee: Eric Marsh & Tim Benke
Institution: University of Colorado and CHOP
Award Amount: $53,500
Funding Period: January 1, 2017 - December 31, 2017
Pharmacological rescue and screening in a Pitt Hopkins model.
Daniel Marenda
Drexel University
$51,000
Awardee: Daniel Marenda
Institution: Drexel University
Award Amount: $51,000
Funding Period: January 1, 2017 - December 31, 2017
Are Raf dimers targets for therapeutic intervention in RASopathies?
Philip Stork
Oregon Health & Sciences University
$44,000
Awardee: Philip Stork
Institution: Oregon Health & Sciences University
Award Amount: $44,000
Funding Period: January 1, 2017 - December 31, 2017
Mutated CRB1 in human induced pluripotent stem cell derived retinal organoids
Stefan Liebau & Marius Ueffing
Eberhard Karls University Tuebingen, Institute of Neuroanatomy
$50,500
Awardee: Stefan Liebau & Marius Ueffing
Institution: Eberhard Karls University Tuebingen, Institute of Neuroanatomy
Award Amount: $50,500
Funding Period: January 1, 2017 - December 31, 2017
Quantitative oculomotor assessment in Late-Onset Tay-Sachs
Stephen Christopher
Massachusetts General Hospital, Harvard Medical School
$42,000
Awardee: Stephen Christopher
Institution: Massachusetts General Hospital, Harvard Medical School
Award Amount: $42,000
Funding Period: January 1, 2017 - December 31, 2017
Identification of the Genetic Causes of Generalized Lymphatic Anomalies
Carrie Shawber
Columbia University Medical Center
$101,000
Awardee: Carrie Shawber
Institution: Columbia University Medical Center
Award Amount: $101,000
Funding Period: January 1, 2017 - December 31, 2017
Role of mitochondria and ROS in etiology of SRS
Charles Schwartz
Greenwood Genetic Center
$53,000
Awardee: Charles Schwartz
Institution: Greenwood Genetic Center
Award Amount: $53,000
Funding Period: January 1, 2017 - December 31, 2017
Drug development for treatment of glutamate dehydrogenase hyperinsulinism
Li Changhong
Children's Hospital of Philadelphia
$82,000
Awardee: Li Changhong
Institution: Children's Hospital of Philadelphia
Award Amount: $82,000
Funding Period: January 1, 2017 - December 31, 2017
Transgenic models of Fibrous dysplasia and models of intervetion
Mara Riminucci
Sapienza University of Rome
$74,000
Awardee: Mara Riminucci
Institution: Sapienza University of Rome
Award Amount: $74,000
Funding Period: January 1, 2017 - December 31, 2017
Identification of Therapeutic Interventions in Ataxia-Telangiectasia Using a Novel Model of Metabolic Stress
Michael Kastan
Duke University School of Medicine
$69,000
Awardee: Michael Kastan
Institution: Duke University School of Medicine
Award Amount: $69,000
Funding Period: January 1, 2017 - December 31, 2017
MRI signatures of cervical spine alterations in mucopolysaccharidosis type I (MPSI)
Igor Nestrasil
University of Minnesota
$52,000
Awardee: Igor Nestrasil
Institution: Boston Children's Hospital
Award Amount: $52,000
Funding Period: January 1, 2017 - December 31, 2017
Sensory evoked potentials as a biomarker in CDKL5
Charles Nelson
Harvard
$53,500
Awardee: Charles Nelson
Institution: Harvard
Award Amount: $53,500
Funding Period: January 1, 2017 - December 31, 2017
CNS Protection from Hyperammonemia
Ljubica Caldovic
Children's National Health System
$43,000
Awardee: Ljubica Caldovic
Institution: Children's National Health System
Award Amount: $43,000
Funding Period: January 1, 2016 - December 31, 2016
Evaluating “exon‐skipping” as a strategy to repair the CFTR nonsense mutation
Christine Bear
SickKids Hospital-Toronto
$51,500
Awardee: Christine Bear
Institution: SickKids Hospital-Toronto
Award Amount: $51,500
Funding Period: January 1, 2016 - December 31, 2016
Systematic Evaluation of a Cluster of Nonsense Mutations in Exon 22 of CFTR to Inform Treatment (Copy)
Joseph Rutkowski
UT Southwestern Medical Center
51,500
Awardee: Garry Cutting
Institution: Johns Hopkins University School of Medicine
Award Amount: $69,000
Funding Period: January 1, 2016 - December 31, 2016