Orphan Disease Center

ODC Grants Awarded

2017 CDKL5 Program of Excellence Pilot Grant Awardees

We are pleased to announce the awardees of the 2017 CDKL5 Program of Excellence Pilot Grant Program: 

 

Timothy Benke, MD, PhD

University of Colorado

"Mechanisms and treatment of paradoxical hyperexcitability in CDKL5 Deficiency Syndrome" 

 

Elisabetta Ciani, PhD

University of Bologna

"Innovative Strategy to Enhance the Efficiency of Gene Therapy for CDKL5 Disorder" 

 

Vera Kalscheuer, PhD

Max Planck Institute for Molecular Genetics

"Novel CDKL5 complex partners and kinase substrate candidates"

 

Charlotte Kilstrup-Nielsen, PhD

University of Insurbia

"Therapeutic potential of pregnenolone and its synthetic non-metabolized derivative for CDKL5 disorder"

 

Alysson Muotri, PhD

University of California San Diego

"CDKL5 Syndrome cortical organoids for drug testing and reversibility potential"

 

Tommaso Pizzorusso, PhD

Institute of Neuroscience, CNR

"Rescuing CDKL5 mice phenotype by targeting developmental critical period mechanisms"

 

David Rowitch, MD, PhD

University of Cambridge

"Understanding CDKL5 Expression Pattern by RNAScope in Developing Mouse and Human Glia"

 

W Andy Tao, PhD

Purdue University

"Identification of CDKL5 direct substrates based on kinase assay linked phosphoproteomics"

 

Sila Ultanir, PhD

The Francis Crick Institute

"Development of biomarkers for CDKL5 activity"

 

Robert Wilson, MD, PhD

University of Pennsylvania and the Children's Hospital of Philadelphia

"Therapeutic drug discovery for CDKL5 deficiency using random shRNA selection" 

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2016 MDBR Research Grant Awards

We are pleased to announce the following recipients of the 2016 Million Dollar Bike Ride research grants!

Team ALD
Florian Eichler, MD
Massachusetts General Hospital / Harvard Medical School
Adrenoleukodystrophy pilot for $100,000
Biodistribution of Intrathecal AAV9-mediated Gene Therapy in AMN

Team APBD Tour de Friends (1)
Hasan Akman, PhD
Columbia University Medical Center
Adult Polyglucosan Body Disease pilot for $50,500
Treatment of adult polyglucosan body disease caused by an intronic mutation in glycogen branching enzyme gene

Team APBD Tour de Friends (2)
Hasan Akman, PhD
Columbia University Medical Center
Adult Polyglucosan Body Disease pilot for $50,500
The efficacy of guaifenesin in the treatment of adult polyglucosan body disease

Team Ataxia Telangiectasia
Michael Kastan, MD, PhD
Duke University School of Medicine
Ataxia Telangiectasia pilot for $69,000
Identification of Therapeutic Interventions in Ataxia-Telangiectasia Using a Novel Model of Metabolic Stress

Team CDCN
Kojo Elenitoba-Johnson, MD
University of Pennsylvania
Castleman Disease pilot for $43,000
Genomic analysis of idiopathic multicentric Castleman disease

Team CDKL5 (1)
Eric Marsh, MD, PhD and Tim Benke MD, PhD
Children's Hospital of Philadelphia
CDKL5 pilot for $53,500
Neurophysiological correlates in CDKL5 syndrome: a supplement to the NIH Natural History Study of Rett syndrome, CDKL5 syndrome, and other Rett syndrome-related disorders; protocol RTT5212

Team CDKL5 (2)
Charles A. Nelson, PhD
Boston Children’s Hospital
CDKL5 pilot for $53,500
Sensory evoked potentials as a biomarker in CDKL5

Team Movin' for Mallory
Amy Firth, PhD
University of Southern California ​
Cystic Fibrosis pilot for $63,000
Gene-edited stem cells for modeling rare mutations in cystic fibrosis (CF)

Team Emily's Entourage
Barry Cooperman, PhD
University of Pennsylvania
Cystic Fibrosis 1282x pilot for $53,000
Rational Design of Effective Therapeutics for Treatment of the 1282X CFTR Disorder

Team Raring to Go for CHI
Changhong Li, MD, PhD
Children's Hospital of Philadelphia 
Congenital Hyperinsulinism pilot for $82,000
Drug development for treatment of glutamate dehydrogenase hyperinsulinism

Team Cure CMD
Antoine Muchir, PhD
Center of Research in Myology UPMC
Congenital Muscular Dystrophy pilot for $47,000
Rescue of cardiac nicotinamide adenine dinucleotide (NAD+) content improves cardiac function in dilated cardiomyopathy in CMD caused by lamin A/C gene

Team Bike4Sight (1)
Jason Mills, PhD
University of Pennsylvania
Retinal Blindness pilot for $50,500
Establishing 3-Dimensional (3D) Retinal Optic Cups using patient-specific CRB1 Induced Pluripotent Stem Cells 

Team Bike4Sight (2)
Stefan Liebau and Marius Ueffing
Eberhard Karls University Tuebingen, Institute of Neuroanatomy
Retinal Blindness pilot for $50,500
Mutated CRB1 in human induced pluripotent stem cell derived retinal organoids

Team Josh & the DCO Riders
Suneet Agarwal, MD, PhD
Boston Children's Hospital 
Dyskeratosis Congenita pilot for $51,000
A multi-center, prospective, minimal intensity BMT trial for dyskeratosis congenita

Team Fibrous Dysplasia
Mara Riminucci
Sapienza University of Rome 
Fibrous Dysplasia pilot for $74,000
Transgenic models of Fibrous dysplasia and models of intervetion

Team LGDA and LMI (1)
Carrie Shawber, PhD
Columbia University Medical Center 
Generalized Lymphatic Anomaly (GLA) & Gorham-Stout Disease (GSD) pilot for $101,000
Identification of the Genetic Causes of Generalized Lymphatic Anomalies 

Team LGDA and LMI (2)
Andrea Del Fattore, PhD
Bambino Gesù Children’s Hospital
Generalized Lymphatic Anomaly (GLA) & Gorham-Stout Disease (GSD) pilot for $59,000
Understanding the molecular and cellular defects of bone remodeling in patients affected by Gorham-Stout disease (GSD)

Team Miles for Millie
Umrao Monani, PhD
Columbia University
Glut 1 Deficiency pilot for $40,000
Exploring the postnatal requirement of the brain for the Glut1 protein 

Team LAM Foundation Easy Breathers (1)
Victoria Stepanova, PhD
University of Pennsylvania
Lymphangioleiomyomatosis pilot for $50,000
Urokinase as a potential biomarker and target in LAM 

Team LAM Foundation Easy Breathers (2)
Elizabeth Henske, MD
Brigham and Women's Hospital 
Lymphangioleiomyomatosis pilot for $50,000
The Role of Regulatory T cells in the Pathogenesis and Therapy of LAM

Team ML4
Christian Michael Grimm
University of Munich, LMU 
Mucolipidosis Type IV pilot for $40,000
Known and novel members of the endolysosomal transportome/channelome as candidates to rescue loss of TRPML1 function in MLIV patients

Team MPS (1)
Ainslie Derrick-Roberts, PhD
SA Pathology
Mucopolysaccharidoses pilot for $52,000
Understanding neurogenesis in MPS IIIA disease

Team MPS (2)
Igor Nestrasil
University of Minnesota
Mucopolysaccharidoses pilot for $52,000
MRI signatures of cervical spine alterations in mucopolysaccharidosis type I (MPSI)

Team NPC (1) 
Xuntian Jiang
Washington University School of Medicine 
Niemann-Pick Disease pilot for $51,000
Carboxyl lysosphingomyelin as a Biomarker for Diagnosis and Assessment of Treatment of NPC Disease

Team NPC (2) 
Silvana Zanlungo, PhD
Pontificia Universidad Católica de Chile
Niemann-Pick Disease pilot for $51,000
Impact on Niemann-Pick C disease of the cross-talk between the c-Abl and the TFEB signaling pathways

Team Pitt Hopkins Pedalers (1)
Daniel Marenda, PhD
Drexel University
Pitt Hopkins Disease pilot for $51,000
Pharmacological rescue and screening in a Pitt Hopkins model 

Team Pitt Hopkins Pedalers (2)
Tonis Timmusk, PhD
Tallinn University of Technology
Pitt Hopkins Disease pilot for $51,000
Identification of direct target genes of TCF4 in neurons

Team RASopathies Network Riders
Philip Stork, MD
Oregon Health & Sciences University
RASopathies pilot for $44,000
Are Raf dimers targets for therapeutic intervention in RASopathies?

Team Snyder-Robinson Syndrome (1)
Charles Schwartz, PhD
Greenwood Genetic Center
Snyder-Robinson Syndrome pilot for $53,000
​Role of mitochondria and ROS in etiology of SRS 

Team Snyder-Robinson Syndrome (2)
Fernando Fierro, PhD
University of California, Davis
Snyder-Robinson Syndrome pilot for $53,000
Modelling osteogenesis of Snyder-Robinson patients by targeting Spermine Synthase using CRISPR/Cas9 in human bone marrow derived mesenchymal stem cells

Team NTSAD
Christopher Stephen, MD
Massachusetts General Hospital, Harvard Medical School 
Tay-Sachs & Allied Diseases pilot for $42,000
Quantitative oculomotor assessment in Late-Onset Tay-Sachs

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2016 Genome Editing for Treatment of Rare Diseases Pilot Grant Awardees

We are pleased to announce the 2016 Genome Editing for Treatment of Rare Diseases Grant Awardees:

Amanda Ackermann, MD, PhD
Children's Hospital of Philadelphia
Repair of Gene Defects in Beta-Cells from Children with Congenital Hyperinsulinism

William Peranteau, MD
Children's Hospital of Philadelphia
In Utero Gene Editing for the Correction of Rare Congenital Diseases 

Tejvir Khurana, MD, PhD
University of Pennsylvania 
Utrophin Genome Editing for Duchenne's Muscular Dystrophy (DMD) Therapy

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2016 MPS I Grant Awards

We are pleased to announce the recipients of the 2016 Improved Therapies for MPS I pilot grants: 

Joseph Anderson, PhD
University of California Davis
Alpha-L-iduronidase Delivery via Human CD34+ Hematopoietic Stem Cells 

Kim Keeling, PhD
University of Alabama at Birmingham
Identify Drugs to Treat MPS-IH Caused by Nonsense Mutations 

Igor Nestrasil, MD
University of Minnesota
Discovery of brain MRI signatures in infants with severe form of MPS I in the pre-HSCT and post-HSCT stage

Carmine Settembre, PhD
Telethon Institute of Genetics and Medicine
Modulation of autophagy to treat skeletal features in MPS I

Lachlan Smith, PhD
University of Pennsylvania
Novel therapies to improve bone formation in Mucopolysaccharidosis I Dogs

Raymond Wang, MD 
CHOC Children's Hospital 
Intraarticular Gene Therapy for Canine Mucopolysaccharidosis Type I Joint Disease 

Drew Weissman, MD, PhD
University of Pennsylvania
Nucleoside modified mRNA therapy for MPS I      

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CDKL5 Program of Excellence Pilot Grant Awardees

We are pleased to announce the 2016 CDKL5 Program of Excellence Pilot Grant Awardees: 

 

Bianca De Filippis, PhD

Instituto Superiore di Sanità

“Brain Rho GTPases: in search of innovative therapeutic targets for CDKL5 deficiency”

 

Michael Green, MD, PhD

University of Massachusetts Medical School

“Pharmacological Reactivation of the Xi-Linked CDKL5 Gene as a Potential Treatment for CDKL5 Deficiency”

 

Frances Jensen, MD, FACP

University of Pennsylvania

“Targeting the chloride-importing and exporting transporters in CDKL5 disorder”

 

Robin Kleiman, PhD

Boston Children’s Hospital

Michael Johnson, MD, PhD

Imperial College London

“Development of a High-content drug repurposing screen using CDKL5 patient derived iPSC neurons”

 

Charlotte Kilstrup-Nielsen, PhD

University of Insubria

“Predictive Drug Repurposing for CDKL5 Syndrome”

 

Nicoletta Landsberger, PhD

University of Milan

“Exploiting computational biology for target identification and drug repositioning in CDKL5 disorder”

 

Jeannie Lee, MD, PhD

Massachusetts General Hospital

“Treating CDKL5 Syndrome by reactivating  the silent allele of CDKL5”

 

Jan Nolta, PhD

University of California, Davis Medical Center

“Development of TALE and CRISPR/Cas9 as a putative therapy for treatment or correction of genetically linked CDKL5 Deficiency”

 

Roy Perlis, MD, MSC

Massachusetts General Hospital

"Precision Medicine Program for CDKL5 Disorders: Therapeutic Screening Using Human iPSC Models”

 

Jianrong Tang, PhD

Baylor College of Medicine

“Studies of forniceal deep brain stimulation and hippocampal memory in CDKL5 mice”

 

Zhaolan Zhou, PhD

University of Pennsylvania

“Identifying a Neural Circuit Readout for CDKL5 Disorder”

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2015 MDBR Research Grant Awards

We are pleased to announce the following recipients of the 2015 Million Dollar Bike Ride research grants!

Team ALD
Florian Eichler, MD
Massachusetts General Hospital / Harvard Medical School
Adrenoleukodystrophy pilot for $50,000
Optimizing Delivery and Endpoints of an AAV9-mediated Gene Therapy Trial in AMN

Team Bronchiolitis Obliterans
Martin Rosewich, MD
Goethe-University Frankfurt/M, Germany
Bronchiolitis Obliterans pilot for $50,500
Role of microRNAs in the pathophysiology of bronchiolitis obliterans

Team Bronchiolitis Obliterans
Stephen Stick, MB, BChir, PhD
Princess Margaret Hospital for Children, Perth, Western Australia
Bronchiolitis Obliterans pilot for $50,500
Epithelial-mesenchymal transition in pediatric airway epithelial cells following infection with bronchiolitis obliterans associated adenoviruses

Team Castleman Disease Network
Minji Byun, PhD
Washington University School of Medicine in St. Louis
Castleman Disease pilot for $63,000
Whole genome sequencing based discovery of germline mutations underlying idiopathic multicentric Castleman disease

Team Emily's Entourage
Steven Rowe, MD, MSPH
University of Alabama at Birmingham 
CTFR Nonsense Mutations pilot for $51,500
An open label N of 1 study to evaluate the safety and efficacy of long-term treatment with Ivacaftor in combination with ATALUREN (PTC124) in Subjects with Nonsense Mutation Cystic Fibrosis

Team Emily's Entourage
Christine Bear, PhD
SickKids Hospital-Toronto 
CTFR Nonsense Mutations pilot for $51,500
Evaluating "exon-skipping" as a strategy to repair the CFTR nonsense mutation

Team Movin' for Mallory
Garry Cutting, MD
Johns Hopkins University School of Medicine
Cystic Fibrosis pilot for $69,000
Systematic Evaluation of a Cluster of Nonsense Mutations in Exon 22 of CFTR to Inform Treatment

Team Raring to Go for CHI
Mark Dunne, BSc, PhD
University of Manchester 
Congenital Hyperinsulinism pilot for $71,000
Towards Precision Medicine in the Treatment of Congenital Hyperinsulinism in Infancy

Team Bike to End Duchenne
Lisa Maves, PhD
Seattle Children's Research Institute 
Duchenne Muscular Dystrophy pilot for $49,000
A zebrafish platform for DMD drug-combination testing

Team Fibrous Dysplasia 
J. Silvio Gutkind, PhD
University of California, San Diego, Moores Cancer Center 
Fibrous Dysplasia pilot for $58,500
Development of next-gen animal models for fibrous dysplasia (FD)/McCune-Albright syndrome (MAS)

Team Fibrous Dysplasia 
Mara Riminucci
Sapienza University of Rome
Fibrous Dysplasia pilot for $58,500
Mouse models of Fibrous Dysplasia (FD) as a tool for developing rational and effective therapies

Team Ride for LGDA & Team LMI
Maxim Itkin, MD
University of Pennsylvania
GLA/GSD pilot for $101,000
Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA)

Team Ride for LGDA & Team LMI
Joseph Rutkowski, PhD
UT Southwestern Medical Center 
GLA/GSD pilot for $51,000
Inducible lymphatic hyperplasia to drive chylous accumulation mimicking lymphangiomatosis

Team Ride for LGDA & Team LMI
David Cormode, PhD 
University of Pennsylvania
GLA/GSD pilot for $51,000
Nano-magnetic oils for the study of intestinal lymphatics in lymphangiomatosis

Team LAM Foundation Easy Breathers
David Kwiatkowski, MD, PhD
Brigham and Women's Hospital
Lymphangioleiomyomatosis pilot for $50,500
TSC2 mutation analysis as a biomarker for lymphangioleiomyomatosis (LAM)

Team LAM Foundation Easy Breathers
Norbert Perrimon, PhD
Harvard Medical School
Lymphangioleiomyomatosis pilot for $50,500
An shRNA based screening method for TSC synthetic lethal screens

Team Cure ML4
Kartik Venkatachalam
University of Texas, School of Medicine at Houston
Mucolipidosis Type IV pilot for $53,000
Mechanisms of Neurodevelopmental Defects in Mucolipidosis type IV (MLIV)

Team MPS
Charles Vite, DVM, PhD, B.S.
University of Pennsylvania
Mucopolysaccharidoses pilot for $50,500
Natural history study and biomarker development in the large animal model of mucolipidosis II

Team MPS
Igor Nestrasil, MD
University of Minnesota
Mucopolysaccharidoses pilot for $50,500
Microstructural and functional MRI signatures in patients with MPS I

Team NPC
Andrew Lieberman, MD, PhD
University of Michigan
Niemann-Pick Disease Type C pilot for $53,500
Characterization of NPC1-I1061T proteostasis machinery for development of NPC therapeutics

Team NPC
Charles Vite, DVM, PhD, B.S.
University of Pennsylvania
Niemann-Pick Disease Type C pilot for $53,500
Targeted AAV gene therapy for vertical supranuclear gaze palsy and dysphagia

Team Pitt Hopkins Pedalers
Tonis Timmusk, PhD
Tallinn University of Technology
Pitt Hopkins pilot for $50,000
Regulation of TCF4 transcriptional activity in neurons

Team Pitt Hopkins Pedalers
Brady Maher, PhD
Lieber Institute for Brain Development, Johns Hopkins School of Medicine
Pitt Hopkins pilot for $50,000
Exploring the impact of a TCF4 mutation on the physiology of inhibitory neurons of the prefrontal cortex

Team RASopathies Network Riders
Giuseppe Zampino
Universita Cattolica Sacro Cuore
RASopathies pilot for $53,000
Pain in RASopathies: new investigative techniques and treatments

Team NTSAD
Marlene Jacobson, PhD
Temple University School of Pharmacy
Tay-Sachs & Allied Diseases pilot for $43,000
Patient-Derived Phenotypic Assay to Discover Treatments for Tay-Sachs Disease

Team UCD
Ljubica Caldovic, PhD
Children's National Health System
Urea Cycle Disorders pilot for $43,000
CNS Protection from Hyperammonemia

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2014 MDBR Research Grant Awards

Team ALD
Florian Eichler, MD
Massachusetts General Hospital / Harvard Medical School
Adrenoleukodystrophy pilot for $50,000
Adeno-associated virus serotype 9-mediated gene therapy for Adrenomyeloneuropathy

Team CHI
Diva De Leon, MD, MSCE
Children's Hospital of Philadelphia
Congenital Hyperinsulinism pilot for $60,000
Pilot study of the efficacy and safety of Sirolimus in the treatment of Congenital Hyperinsulinism

Team Cure CMD
Pam Van Ry, PhD
University of Nevada School of Medicine
Congenital Muscular Dystrophy Postdoctoral fellowship for $35,000
Galectin-1 protein therapy for the treatment for Laminin alpha2 related Congenital Muscular Dystrophy

Team FH
Chutikarn Butkinaree, PhD
Clinical Research Institute of Montreal, Canada
Familial Hypercholesterolemia Postdoctoral fellowship for $35,000
The molecular mechanisms of PCSK9-induced LDLR degradation

Team FARA
Yogesh Chutake, PhD
University of Oklahoma HSC
Friedreich’s Ataxia Postdoctoral fellowship for $35,000
Reversal of epigenetic promoter silencing in Friedreich ataxia by histone deacetylase inhibitors

Team Spin Factor for Hemophilia
Oscar Marcos-Contreras, PhD
The Children's Hospital of Philadelphia
Hemophilia Postdoctoral fellowship for $35,000
Enhancing coagulation factor expression in skeletal muscle by augmenting the endogenous post-translational protein modification machinery: application to hemophilia gene therapy

Team LAM
Aristotelis Astreinidis, PhD
Texas Tech University Health Sciences Center
Lymphangioleiomyomatosis pilot for $60,000
Evaluation of PLK1 inhibitors in a pre-clinical LAM animal model

Vera Krymskaya, Ph.D., M.B.A.
University of Pennsylvania
Lymphangioleiomyomatosis pilot for $60,000
STAT3 in pulmonary lymphangioleiomyomatosis (LAM)

Team ML4
Susan Slaugenhaupt, PhD
Massachusetts General Hospital
Mucolipidosis Type IV pilot for $50,000
Targeting miR-155 as a therapy for mucolipidosis IV

Team MPS
Alena Svatkova, MD
University of Minnesota
Mucopolysaccharidosis Postdoctoral fellowship for $35,000
Unraveling the basis of white matter disease in mucopolysaccharidosis type I - a DTI study

Team NPC
Ashley Bush, MB BS, DPM, FRANZCP, PhD, FTSE, NHMRC Australia Fellow
The Florey Institute of Neuroscience and Mental Health, Australia
Niemann-Pick Type C pilot for $50,000
Dual targeting of defective lipid and metal pathways in Niemann-Pick type C disease: an in vitro pilot study

Brittney Gurda, PhD
University of Pennsylvania, School of Veterinary Medicine
Niemann-Pick Type C Postdoctoral fellowship for $35,000
CNS gene therapy to restore NPC1 protein expression in cerebellar Purkinje cells and delay or prevent disease onset in feline Niemann-Pick type C1 (NPC1) disease

Team Pitt Hopkins Pedalers
Daniel Marenda, PhD
Drexel University
Pitt Hopkins pilot for $55,000
Understanding TCF4 function in post-mitotic neuron synaptic plasticity

Benjamin Philpot, PhD
University of North Carolina, Chapel Hill
Pitt Hopkins pilot for $55,000
Identification of molecular targets for Pitt-Hopkins Syndrome treatments

Team RASopathies
Maria Kontaridis, PhD
Beth Israel Deaconess Medical Center/Harvard Medical School
RASopathies pilot for $65,000
Delineating the cause of gastrointestinal abnormalities in RASopathy disorders using human inducible pluripotent stem cells (iPSCs)

Team NTSAD
Annette Bley, MD
University Medical Center Hamburg-Eppendorf, Germany
Tay-Sachs Postdoctoral fellowship for $35,000
Quantitative description of the clinical course of Canavan disease

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MPS 1 Grant Awards 2014-2015

Andrea Ballabio
TIGEM
Modulation OfCellular Clearance To Treat Mucopolysaccharidoses Type 1

Maria Fuller
SA Pathology (Univ. Southern Australia)
Oral fatty acid supplementation as an adjunct therapy for MPS I

Michael James
U Alberta
Structure-guided development of small molecule “pharmacological chaperones” for the treatment of Mucopolysaccharidosis I

Don Mahuran
The Hospital for Sick Children
Developing Substrate Reduction Therapy for MPS I, II & III

Wei Zheng (prev. McKew)
NIH
Phenotypic screening to identify lead compounds that reduce lysosomal storage in neuronal cells derived from MPS I patients 

Jude Samulski
UNC
Gene Therapy for MPS Ocular Blindness in BMT Individuals

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MPS 1 Grant Awards 2013-2014

Andrea Ballabio
TIGEM
Modulation OfCellular Clearance To Treat Mucopolysaccharidoses Type 1

Ronald Crystal
Cornell
Assessment of three routes of delivery of the IDUA gene (gene implicated in MPS-I) in non-human primates comparing two serotypes, AAV9 and AAVrh.10 for the treatment of MPS-I. 

Maria Fuller
SA Pathology
Oral fatty acid supplementation as an adjunct therapy for MPS I
Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet

Michael James
U Alberta
Structure-guided development of small molecule “pharmacological chaperones” for the treatment of Mucopolysaccharidosis I

Don Mahuran
The Hospital for Sick Children
Developing Substrate Reduction Therapy for MPS I, II & III

John McKew
NIH
Phenotypic screening to identify lead compounds that reduce lysosomal storage in neuronal cells derived from MPS I patients 

Anthony Stevens
Amicus Therapeutics
Ex vivo and in vivo assessment of next generation enzyme replacement therapies

Charles Vite 
U Penn
Antemortem 3D EPSI metabolic mapping of the canine MPS I brain 

Jeffrey Esko
UCSD
Intranasal Enzyme Replacement Therapy for the Brain

Jude Samulski
UNC
Gene Therapy for MPS Ocular Blindness in BMT Individuals

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MPS 1 Grant Awards 2012-2013

David Bedwell, Kim Keeling
University of Alabama at Birmingham
Investigating Suppression Therapy to Treat MPS I-H

Jeffrey Esko
University of California, San Diego
Novel Transporters for MPS I Enzyme Replacement Therapy

Ronald Crystal
Weill Medical College of Cornell University
Adeno-associated Virus-mediated Gene Transfer for the Treatment the CNS Manifestations of MPS I

Lee Sweeney, Fred Kaplan
UPENN/CHOP
Premature Stop Codon Suppression as a Possible Treatment for MPS-1

Calogera Simonaro, Mark Haskins
Mount Sinai School of Medicine and UPENN
Pre-clinical Evaluation of TNF- Antagonists for the Treatment of MPS I in Combination With Enzyme Replacement Therapy

Katherine Ponder, Mark Haskins
Univ of Washington, St. Louis and UPENN
The Pathophysiology and the Effect of Treatments on Cardiovascular disease in Mucopolysaccharidosis I in Dogs

Elliott Haskins
University of Pennsylvania
Pathomechanisms and treatment of spine disease in mucopolysaccharidosis I dogs

Jacob Tolar
University of Minnesota
Intranasal Delivery of Human IDUA

Adrian Krainer
Cold Spring Harbor Laboratory
Inhibiting NMD of Mutant IDUA mRNA for MPS I Therapy

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MPS 1 Grant Awards 2011-2012

David Bedwell, Kim Keeling
University of Alabama at Birmingham
Investigating Suppression Therapy to Treat MPS I-H

Ronald Crystal
Weill Medical College of Cornell University
Adeno-associated Virus-mediated Gene Transfer for the Treatment the CNS Manifestations of MPS I

DM Elliott, Mark Haskins
University of Pennsylvania
Pathomechanisms and treatment of spine disease in mucopolysaccharidosis I dogs

Jeffrey Esko
University of California, San Diego
Novel Transporters for MPS I Enzyme Replacement Therapy

Jane Hsiao
OPKO Health, Inc.
IDUA Up-regulation for the Treatment of Mucopolysaccharidosis Type I (MPS1)

Katherine Ponder, Mark Haskins
Univ of Washington, St. Louis and UPENN
The Pathophysiology and the Effect of Treatments on Cardiovascular disease in Mucopolysaccharidosis I in Dogs

Calogera Simonaro, Mark Haskins
Mount Sinai School of Medicine and UPENN
Pre-clinical Evaluation of TNF- Antagonists for the Treatment of MPS I in Combination With Enzyme Replacement Therapy

Lee Sweeney, Fred Kaplan
UPENN CHOP
Premature Stop Codon Suppression as a Possible Treatment for MPS-1

Jacob Tolar
University of Minnesota
Intranasal Delivery of Human IDUA

Adrian Krainer
Cold Spring Harbor Laboratory
Inhibiting NMD of Mutant IDUA mRNA for MPS I Therapy 

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