Grant Support

Bruce A. Barshop, MD, PhD

1) Newborn Screening Area Service Contract-Primary medical consultant
for Southern-most counties of the State of California (Approx. 120,000 births/yr)
03-75-055/California DHS Jan. 2003-June 2011

2) NIH (NICHD): Genetic factors involving expression of 3-methylcrotonyl-CoA carboxylase deficiency
Major goals: The goal of this project is to correlate genome-wide associations with the presence of symptoms in 3MCC-deficiency
1 R03 HD069983-01 Aug. 2011 to Jul. 2013

3) Genzyme Corporation: Metabolomic Studies of Lysosomal Storage Disorders: Correlation of Outcomes in Gaucher Disease and Pompe Disease. Major goals: Correlation of biomarkers and complications in Lysosomal disease.’
20103879 Jan. 2011 to Jan. 2014

4) NIH (NIDDK): Novel Paradigms in Diabetic Complications . Major goals: The major goal of this project is to investigate mitochondrial activity in type 1 diabetic kidney disease through metabolomics, to better understand the basis of kidney complications.
1 DP3 DK094352-01 Sept. 2011 to Aug. 2016

5) NIH Natl Ctr Research Resources (Incl Mutant Mouse Reg Res C): San Diego Clinical and Translational Research Institute. Major goals: Support of clinical and translational research. Role: protocol and safety review.
UL1000100-03 Apr. 2012 to Mar. 2014

6) Cystinosis Research Foundation: Improvement of Intracellular Cystine Determination
Major goals: Optimize the principal procedure used for diagnostic and monitoring biomarker in cystinosis.
20110537 Sept. 2012 to Aug. 2014

 
Craig L. Bennett, PhD

1) National Health & Medical Research Council Total: $270,000
(NHMRC) (APP1045520) 2013-2016

2) National Institutes of Health Total: $200,000
(NIGMS) (GM094384-01) 2010-2015

3) James Cook University (Faculty Research Grant) Total: $10,000
“Senataxin/TDP-43 Interaction in Motor Neuron Disease” 2012
 

Lynne M. Bird, MD

1) Trial of Levodopa for Angelman syndrome Total: $72,565
Angelman Syndrome Foundation Mar. 2011-Feb. 2012

2) Rare Diseases Clinical Research Network Total: $491,775
NICHD Aug. 2009 – July 2014

3) Phase II Trial of Levodopa in Angelman syndrome Total: $298,066
FDA August 2010 – July 2014
 

Stephanie Cherqui, Ph.D

1) NIH/NIDDK R01-DK090058
Lentiviral-transduced hematopoietic stem cell transplantation for cystinosis
Role: PI Jan. 2011 – Dec. 2015

2) NIH/NIDDK R01-DK090058
Toxicology studies for gene-modified stem cell transplantation for cystinosis
Role: PI Aug. 2013 – May 2015

3) Cystinosis Research Foundation
Pharmacology/Toxicology studies for gene-modified stem cell transplantation for cystinosis
Role: PI Aug. 2013-July 2016

4) Cystinosis Research Foundation
Mechanism of bone marrow stem cell-mediated therapy in the mouse model of cystinosis
Role: PI Aug. 2013 – July 2015

5) NIH/NIDDK R21-DK090548-01
Kidney-targeted gene delivery for cystinosis
Role: PI Sept. 2011- Aug. 2013

6) Cystinosis Research Foundation
Eye-targeted gene therapy for cystinosis
Role: co-PI Sept. 2009 – Aug. 2011

7) Cystinosis Research Foundation
Stem cell and gene therapy for cystinosis
Role: PI Jul. 2009 – Jun. 2011
 

Theodore Friedmann, MD, PhD

1) WADA (World Anti-Doping Agency)
“Informatics, Cross-Study Analysis and Molecular Signatures for Detection of Doping”
Jan. 2011 - April 2012

2) NIH/NIDDK
“Lesch-Nyhan Disease, a model for complex genetic, proteomic and metabolic pathway”
(1R24DK082840) Aug. 2008 – Aug 2013

3) Lesch-Nyhan Syndrome Children’s Research Foundation
“Understanding how abnormal purine metabolism leads to neurological abnormalities in LND cells”
April 2010 to Presen
 

Pamela Itkin-Ansari, PhD

1) “Development of the TheraCyte Cellular Encapsulation System for Delivery of hESC-derived Pancreatic Islets and Progenitors” (Kroon, PI)
RT1-01093 Role: Co-PI 4-1-09 to 3-31-11 Total: $89,000

2) The Hartwell Foundation-Individual Biomedical Research Award
May 2011 to April 2014

Hirshberg Foundation for Pancreatic Cancer
Jan. 2011 to Nov. 2012

CIRM RT1-01093.
April 2009 to March 2011 
 

Albert R. La Spada, MD, PhD

2001 – 2015 “Models of SBMA motor neuron degeneration”.
2-R01 NS041648-13.
Total renewal support: $1,752,875 (direct = $230,000 / year).
Source: National Institutes of Health / NINDS. Principal Investigator
ARRA administrative supplement (2009 – 2010). 2-R01 NS41648-08-S1.
Total support: $118,206.
 
2001 – 2013 “Modeling motor neuron degeneration in SBMA”.
Total support: $363,000 (direct = $100,000 / year).
Source: Muscular Dystrophy Association. Principal Investigator
 
2002 – 2017 “SCA7 neurodegeneration: Molecular epigenetic basis & therapy”.
5-R01 EY014061-10.
Total support: $2,618,000 (direct = $375,000 / year).
Source: NIH / NEI Principal Investigator
 
2004 – 2014 “Role of Nna1 in retinal and cerebellar neurodegeneration”.
2-R01 EY014997-09.
Total support: $1,450,834 (direct = $250,000 / year).
Source: National Institutes of Health / NEI. Principal Investigator

Administrative supplement (2012 – 2013). 3-R01 EY014997-09-S1.
Total support: $75,000. 
 
2009 – 2014 “Autophagy and protein translation in neural function and neurodegeneration”.
1-R01 AG033082-04
Total Support: $1,600,000 (direct = $205,000 / year).
Source: National Institutes of Health / NIA. Principal Investigator
 
2010 – 2015 “PPAR-delta signaling pathway in neural function and HD neuropathology”.
1-R01 NS065874-03
Total Support: $1,950,000 (direct = $212,000 / year).
Source: National Institutes of Health Principal Investigator

Administrative supplement (2012 – 2013). 3-R01 NS65874-03-S1.
Total support: $50,000. 
 
2010 – 2015 “Neuronal RNA processing defects in ALS4 caused by SETX mutation”.
1-R01 GM094384-01
Total Support: $1,502,125 (direct = $185,000 / year).
Source: NIH / NIGMS. Principal Investigator
 
2012 – 2014 “Clinical evaluation of patients with SCA7 retinal degeneration”.
Bench-to-Bedside Award Competition (Brooks, B.P.)
Source: NIH Intramural Program Co-Principal Investigator
 
2012 – 2014 “Regulation of autophagy and lysosomal network through TFEB”.
Total Support: $352,000
Source: CHDI foundation Principal Investigator
 
2012 – 2014 “Antisense oligonucleotide knock-down of ataxin-7 in a SCA7 mouse model”.
R21 NS082112-01
Total Support: $426,250
Source: NIH / NINDS Principal Investigator
 
2012 – 2013 “Development of a High Throughput Screening assay for TFEB modulation”.
Total Support: $20,000 (all direct)
UCSD CTRI Pilot Project Principal Investigator 
  

Fred Levine, MD, PhD

1) European Commission Directorate-General Total: $494,224
277713 (Levine, PI) Oct. 2011- Sept. 2015

2) CIRM Research Training Program II Total: $65,000
Pancreatic Beta-cells Regeneration Using Non-invasive Techniques
TG2-01162 (Piran, PI; Levine, Advisor) Sept. 2011 – Aug. 2013
 

Alysson Muotri, PhD

1) “Modeling autism with human pluripotent cells” Total: $1,500,000
NIH Director’s New Innovator Award
1 DP2 OD006495-01 (Muotri, PI) Sept. 2009 - Sept. 2014

2) “Modeling Autism Spectrum Disorders using human neurons” Total: $150,000
Young Investigator Award (Muotri, PI) Dec. 2010 – Dec. 2013
Emerald Foundation, Inc.

3)"Developing a drug-screening system for ASD using human neurons" Total: 1,491,000
CIRM (Muotri, PI) Jan. 2011- Mar. 2014

4)"Modeling familial ALS8 with human induced pluripotent stem cells" Total: 360,000
MDA (Muotri, PI) Jan. 2011- Jan. 2014

5)"Linking Behavior to Cellular Phenotypes: iPSC for Williams syndrome" Total: 152,000
NIH (Muotri, PI) Aug. 2010 – Sept. 2013

6)"The Impact of L1 retrotransposition in the nervous system" Total: 1,000,000
NIMH (Muotri, PI) July 2011 – June 2016

7)"Modeling anorexia nervosa with human pluripotent stem cells" Total: 225,000
NIMH (Muotri, PI) Apr. 2011 – Mar. 2014

8)"Contribution of human astrocytes to Rett syndrome" Total: 100,000
IRSF (Muotri, PI) Jan. 2013- Jan. 2014
 

Robert K. Naviaux, MD, PhD

1) The William Wright Foundation, Vernon, TX Total: $100,000/year
Therapeutic Approaches to Mitochondrial Disease Sept. 2013-Aug. 2014

2) NIMH and DOD Total: $377,000/year
MRS-II Demonstration Project: Metabolomic Signatures of Stress Resilience and Risk
Sept. 2012-Aug. 2013

3) UCSD Foundation Christini Fund, La Jolla, CA Total: $75,000/year
Mechanisms of Mitochondrial Disease Oct. 1999-Present

4) UCSD Mitochondrial Research Fund—“The 5k Mito Walk And Roll” Total: $40,000
Mechanisms of Mitochondrial Disease Feb. 2013-Jan. 2014

6) NIH/NIDDK 1DP3DK094352-01 Total: $5.9 million total over 5 years
Novel Paradigms in Diabetic Complications Nov. 2011-Oct. 2016

7) Jane Botsford Johnson Foundation, New York, NY Total: $424,000
Purinergic Signaling in Autism April 2013-Mar. 2014

8) The William Wright Foundation, Vernon, TX Total: $150,000
Therapeutic Approaches to Mitochondrial Disease Sept. 2008-Aug. 2012

9) Lennox Foundation, Dallas, TX Total: $100,000
Mechanisms of Mitochondrial Disease May 2007-April 2012

William L. Nyhan, MD, PhD

1) “Mutational Analysis and Molecular Studies of HPRT Deficiency” Total: $50,000
Lesch-Nyhan Syndrome Children’s Research Foundation

2) “Biomarin – PKU Registry”

3) “Safety and efficacy of Kuvan, tetrahydrobiopterin in patients with PKU under 8 years of age”
Biomarin Pharmaceuticals

4) “Age related issues in the treatment of alkaptonuran with nitisinone” Swedish Orphan Foundation