Awarded Grants
Awarded Grants
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