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Clinical Genetics and Metabolism
Research Funding
(listed alphabetically by Principal Investigator or by Section faculty member involved)
2006-2008
Cooking Tutorial for Families with Inherited Metabolic Disorders on Special Diets
Project Leader: Laurie E. Bernstein, MS, RD, FADA
Source: Family Donation
Amount: $5,000/yr
Term: 2007 - 2007
Development of an Inherited Metabolic Disorder Visual Aid
Project Leader: Laurie E. Bernstein, MS, RD, FADA
Source: Vitaflo
Amount: $15,000/yr
Term: 2007 - 2008
Education Grant - Satellite Symposium on the Use of Chaperone Therapy
Principal Investigator: Laurie E. Bernstein, MS, RD, FADA
Source: BioMarin Pharmaceutical
Amount: $3,000/yr
Term: 2008
Maternal PKU Resource Packet
Principal Investigator: Laurie E. Bernstein, MS, RD, FADA
Co-Investigator: Cynthia L. Freehauf, RN, MS, CGC
Source: March of Dimes Birth Defects Foundation
Amount: $2,250
Term: 2008
Metabolic University: An International Week-Long Program for Metabolic Nutritionists, Nurses, and Genetic Counselors
Principal Investigator: Laurie E. Bernstein, MS, RD, FADA
Co-Investigator: Cynthia L. Freehauf, RN, MS, CGC
Source: Nutricia North America - PN200705-077
Amount: $66,500
Term: 2007 - 2009
Mile High Low Protein Cookbook
Project Leader: Laurie E. Bernstein, MS, RD, FADA
Source: Family Donation
Amount: $5,000/yr
Term: 2007 - 2007
Neonatal Implants of Neural Progenitor Cells as a Life-Long Treatment for Down Syndrome
Principal Investigator: Kimberly B. Bjudstad, PhD
Source: National Down Syndrome Society: Charles J. Epstein Research Award
Amount: $34,559/yr
Term: 2008 - 2011
Neural Stem Cells as Potential Treatment for Down Syndrome Using Young and Aged Trisomic Mice
Principal Investigator: Kimberly B. Bjudstad, PhD
Co-Principal Investigator: Kenneth Maclean, PhD
Source: Anna and John J. Sie Foundation
Amount: $50,000/yr
Term: 2006 - 2008
Reconstruction of the Nigrostriatal Pathway by Photopolymerized Neurotrophin Containing Hydrogels
Principal Investigator: Kimberly B. Bjudstad, PhD
Source: NINDS, NIH - R01 NS052597
Amount: $993,272
Term: 2006 - 2009
Tau Deposition in Aged Ts65Dn Mice
Principal Investigator: Drew Kern
Mentor: Kimberly B. Bjudstad, PhD
Source: American Foundation for Aging Research
Amount: $1,000/yr
Term: 2008
The Use of Degradable Photopolymerized Implants to Attenuate L-Dopa Induced Dyskinesias in the Parkinsonian Rat
Principal Investigator: Kimberly B. Bjudstad, PhD
Source: The McKnight Endowment Fund for Neuroscience
Amount: $100,000/yr
Term: 2008 - 2010
Effects of Neural Progenitor Cell Transplantation in Neonatal Ts65Dn Mice
Principal Investigator: Angela Rachubinski, BS
Mentor: Kimberly B. Bjudstad, PhD
Source: NINDS, NIH - F31 NS060517
Amount: $27,792/yr
Term: 2008 - 2012
Vitamin-Dependent Electron Transfer Flavoprotein Ubiquinone Oxidoreductase; a Novel Potential Site for Production of Reactive Oxygen Species in Mitochondria
Consultant: Frank E. Frerman, PhD
Source: Danish Medical Research Council
Amount: International funding
Term: 2008
Rare Diseases Consortium on Urea Cycle Disorders
Principal Investigator: Renata C. Gallagher, MD, PhD
Source: TCH Research Institute
Amount: $108,334/yr
Term: 2008 - 2009
The Biology of Chromosome 21 Genes: Expert Workshop
Principal Investigator: Katheleen Gardiner, PhD
Source: NICHD, NIH - 7 R13 HD055810-02
Amount: $14,999
Term: 2007 - 2008
Comparative and Functional Genomics Conference
Principal Investigator: Katheleen Gardiner, PhD
Source: U.S. Department of Energy
Amount: $7,831
Term: 2006 - 2007
Data Mining for Down Syndrome Gene-Phenotype and Drug Response Correlations
Principal Investigator: Katheleen Gardiner, PhD
Source: Fondation Jérôme Lejeune
Amount: $18,000/yr
Term: 2007 - 2009
Disregulation of Calcineurin in Mouse Models of Down Syndrome
Principal Investigator: Katheleen Gardiner, PhD
Source: NICHD, NIH - R03 HD49460-01
Amount: $50,000/yr
Term: 2005 - 2008
Expert Workshop on the Biology of Chromosome 21 Genes
Principal Investigator: Katheleen Gardiner, PhD
Source: Fondation Jérôme Lejeune
Amount: $25,000/yr
Term: 2007 - 2008
Perturbation of Signaling Pathways in Mouse Models of Down Syndrome
Principal Investigator: Katheleen Gardiner, PhD
Source: Fondation Jérôme Lejeune
Amount: $28,000/yr
Term: 2007 - 2009
Systems Biology for Studies of Cognition in Down Syndrome
Principal Investigator: Katheleen Gardiner, PhD
Source: NICHD, NIH - R01HD056235
Amount: $499,742/yr
Term: 2008 - 2013
Crystallization and Structure Determination of Human Propionyl CoA Carboxylase
Principal Investigator: Jan P. Kraus, PhD
Source: Propionic Acidemia Foundation
Amount: $30,000/yr
Term: 2008 - 2011
Cystathionine Beta Synthase (CBS): A Key Enzyme in Homocysteine and Hydrogen Sulfide Metabolism
Principal Investigator: Jan P. Kraus, PhD
Source: Fondation Jérôme Lejeune - PN200707-071
Amount: $35,706
Term: 2007 - 2009
Genotype-Phenotype Correlations in Propionic Acidemia
Principal Investigator: Jan P. Kraus, PhD
Source: Propionic Acidemia Foundation
Amount: $40,000/yr
Term: 2008 - 2011
Homocysteine and Heme: A Role in Thrombosis?
Principal Investigator: Jan P. Kraus, PhD
Source: NHLBI, NIH - R01 HL065217
Amount: $384,079
Term: 2008 - 2012
Homocysteine and Thrombosis
Principal Investigator: Jan P. Kraus, PhD
Source: AHA - 0655670Z
Amount: $198,000
Term: 2006 - 2009
Mouse Models of Cystathionine Beta Synthase (CBS) Deficient Homocystinuria
Principal Investigator: Jan P. Kraus, PhD
Source: Fondation Jérôme Lejeune - PN0503-102
Amount: $49,845
Term: 2005 - 2008
Therapeutic Approaches to Propionic Acidemia
Principal Investigator: Jan P. Kraus, PhD
Source: Propionic Acidemia Foundation - PN 200509-235
Amount: $55,000
Term: 2006 - 2008
Attentional Dysfunction in Fragile X Syndrome
Principal Investigator: Kenneth Maclean, PhD
Source: NICHD, NIH - R01 HD047029
Amount: $1,032,986
Term: 2003 - 2008
Genetics, Neurobiology, and Cognition in Down Syndrome
Principal Investigator: Kenneth Maclean, PhD
Source: NICHD, NIH - R01 HD045224
Amount: $1,240,522
Term: 2003 - 20008
Taurine as an Adjuvant Therapy for Cystathionine Beta Synthase Deficient Homocystinuria
Principal Investigator: Kenneth Maclean, PhD
Source: Special Products (UK pharmaceutical company)
Amount: $50,000/yr
Term: 2008 - 2008
Ts65Dn Mice as a Preclinical Model for Iinvestigating Cognitive Enhancement by the Acetylcholinesterase Inhibitor Donepezil in Down Syndrome
Principal Investigator: Kenneth Maclean, PhD
Source: The Anna and John J. Sie Foundation
Amount: $50,000
Term: 2006 2007
Lipid Aldehyde and Ethanol-Induced Liver Damage
Principal Investigator: Dennis R. Petersen, PhD
Co-Principal Investigator: Kenneth Maclean, PhD
Source: National Institute on Alcohol Abuse and Alcoholism, NIH - R01 AA009300
Amount: $2,207,544
Term: 2008 - 2013
Proteomic Profiling of NASH (non-alcoholic steatohepatitis): Disease Mechanisms and Novel Treatment
Principal Investigator: Dennis R. Petersen, PhD
Co-Principal Investigator: Kenneth Maclean, PhD
Source: NIDDK, NIH - R01 DK074487
Amount: $1,566,508
Term: 2007 - 2012
Colorado Intellectual and Developmental Disabilities Research Center
Principal Investigator: Karl H. Pfenninger, MD
Source: NICHD, NIH - P30 HD004024
Amount: $4,845,762
Term: 2003 - 2008
- Center Director: Karl H. Pfenninger, MD
- Core Director of Translational Nexus Core: Cordelia Robinson, PhD, RN; Co-Director: Gunter Scharer, MD, PhD
- Core Director of Animal Models: Kenneth N. Maclean, PhD; Co-Directors: Timothy Benke, MD, PhD, Michael Mesches, PhD, and Natalie Serkova, PhD
- Core Directors of Cellular Systems and Analysis: Karl H. Pfenninger, MD
- Core Director of Molecular Discovery: Frank E. Frerman, PhD; Co-Director: Elaine B. Spector, PhD
- Core Director of Administrative Core: Karl H. Pfenninger, MD
Novel Directions in Cystathionine Beta Synthase (CBS) Deficiency
Principal Investigator: Karl H. Pfenninger, MD
Source: TCH Research Institute
Amount: $40,000/yr
Term: 2008 - 2009
Research on Growth Cone Adhesion and Motility
Principal Investigator: Karl H. Pfenninger, MD
Source: Dean's Bridge Funding, UCD
Amount: $50,000/yr
Term: 2007 - 2008
Role of Down Syndrome Cell Adhesion Molecule in Cognitive Disability
Principal Investigator: Karl H. Pfenninger, MD
Source: Anna and John J. Sie Foundation
Amount: $25,000/yr
Term: 2006 - 2008
Improving Neural Graft Function in Parkinsonian Monkeys
Principal Investigator: John R. Sladek, Jr., PhD
Source: NINDS, NIH - PO1 NS 044281
Amount: $179,222/yr
Term: 2007 - 2008
Clinical Testing for Multiple Acyl-CoA Dehydrogenase
Principal Investigator: Elaine B. Spector, PhD
Co-Principal Investigators: Frank E. Frerman, PhD, Gunter Scharer, MD, PhD, and Johan L. Van Hove, MD, PhD
Source: Collaboration, Education, and Test Translation (CETT) Program, Office of Rare Diseases, NIH
Amount: $48,100/yr
Term: 2008 - 2009
Consultant to Kingdom of Jordan for the Establishment of the Forensic and Molecular Diagnostics Laboratory (FAMDL)
Consultant: Elaine B. Spector, PhD
Source: Science Application International Corporation
Amount: $55,000/yr
Term: 2006 - 2007
Gene Discovery for Craniofacial Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institute of Dental and Craniofacial Research, NIH - DE015191
Amount: $375,154/yr
Term: 2003 - 2007
Genetic Studies of Human Pigmentation Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institute of Arthritis, Musculoskeletal and Skin Diseases, NIH - AR039892
Amount: $465,433/yr
Term: 2001 - 2006
Mapping of Vitiligo Susceptibility Genes
Principal Investigator: Richard A. Spritz, MD
Co-Investigator: Pamela R. Fain, PhD
Source: National Institute of Arthritis, Musculoskeletal and Skin Diseases, NIH - R01 AR045584
Amount: $2,603,647
Term: 2004 - 2009
Missing Mutations in Oculocutaneous and Ocular Albinism
Principal Investigator: Richard A. Spritz, MD
Source: National Eye Institute, NIH - EY015626
Amount: $285,409/yr
Term: 2004 - 2007
VitGene International Consortium to Identify Susceptibility Genes for Generalized Vitiligo
Principal Investigator: Richard A. Spritz, MD
Source: NIH - R01 AR056292
Amount: $1,281,422/yr
Term: 2008-2012
Development and Ongoing Functioning of the Colorado Lysosomal Storage Disorders Program
Project Leader: Janet A. Thomas, MD
Source: Genzyme Corporation
Amount: $68,000/yr
Term: 2007 - 2009
Development of Center of Excellence for Lysosomal Storage Disease
Principal Investigators: Matthew R. G. Taylor, MD, and Janet A. Thomas, MD
Source: Genzyme Therapeutics
Amount: $68,000/yr
Term: 2003 - 2006
Iduronate-2-Sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPSII)
Principal Investigator: Janet A. Thomas, MD
Source: Transkaryotic Therapies, Inc. - Clinical Protocol No. TKT024Ext
Amount: $51,7620
Term: 2005 - 2007
The Long-Term Tracking of Patients Diagnosed via Expanded Newborn Screening
Project Leader: Janet A. Thomas, MD
Source: Mountain States Regional Genetic Collaborative Center
Amount: $28,000/yr
Term: 2007 - 2008
The Long-Term Tracking of Patients Diagnosed via Expanded Newborn Screening
Project Leader: Janet A. Thomas, MD
Source: Mountain States Regional Genetic Collaborative Center
Amount: $90,000/yr
Term: 2006 - 2007
Autism Network for Best Care of Patients
Consultant: Chun-Hui (Anne) Tsai, MD, MSc
Source: Colorado Health Foundation
Amount: $250,000
Term: 2007 - 2009
Dysmorphology Exam in Classification of Autism
Consultant: Chun-Hui (Anne) Tsai, MD, MSc
Source: National Center on Birth Defects and Developmental Disabilities, CDC
Amount: $16,000/yr
Term: 2007 - 2009
Natural History of Recombinant 8 Syndrome
Principal Investigator: Chun-Hui (Anne) Tsai, MD, MSc
Source: Mountain States Genetic Network
Amount: $30,000
Term: 2005 - 2006
Rare Liver Disease Network
Principal Investigator: Ronald J. Sokol, MD
Co-Investigator: Johan L. Van Hove, MD, PhD
Source: NIDDK, NIH - U54 DK078377
Amount: $3,750,000
Term: 2004 - 2009
2005
Center for Research in Mental Retardation (supports tissue culture, molecular biology, enzyme and molecular diagnostic, mass spectrometry, animal behavior, human subjects recruitment and evaluation and developmental neuropsychology core facilities)
Program Director: Stephen I. Goodman, MD
Core Director of Tissue Culture: Stephen I. Goodman, MD
Core Director of Molecular Biology: Jan P. Kraus, PhD
Core Directors of Enzyme and Molecular Diagnosis: Frank E. Frerman, PhD, and Elaine B. Spector, PhD
Core Director of Chemistry/Mass Spectrometry: Paul V. Fennessey, PhD
Core Director of Animal Housing and Assessment: Kenneth N. Maclean, PhD
Core Director of Human Subjects Recruitment and Evaluation: Randal Ross, MD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD04024
Amount: $4,976,931
Term: 2003-2008
Genetic Biochemical Disorders in Mental Retardation
Program Director and Principal Investigator: Stephen I. Goodman, MD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD08315
Amount: $6,113,976
Term: 2000-2005
- The Biochemical and Molecular Basis of ETF-QO Deficiency
Principal Investigator: Frank E. Frerman, PhD
- The Biochemical and Molecular Bases of Glutaric and D-2-Hydroxyglutaric Acidemia
Principal Investigator: Stephen I. Goodman, MD
- The Molecular Biology of ATMI, a Putative Mitochondrial Iron Transporter
Principal Investigator: David M. Koeller, MD
- The Molecular Basis of CBC Disorders in Human Disease
Principal Investigator: Jan P. Kraus, PhD
- The Molecular Basis of Propionic Acidemia
Principal Investigator: Jan P. Kraus, PhD
Denver Autoimmunity Center of Excellence
Principal Investigator: Michael Holers, MD
Basic Project III: Genetic Analysis of Autoimmune Polyendocrine Syndrome-II
Principal Investigator: Richard A. Spritz, MD
Co-Investigator: Pamela R. Fain, PhD
Source: National Institutes of Health, National Institute of Allergy and Infectious Diseases - U19-AI46374
Amount: $150,000/yr
Term: 2003-2008
Homocysteine and Thrombosis
Principal Investigator: Jan P. Kraus, PhD
Source: National Heart, Lung and Blood Institute - HL65217
Amount: $566,250
Term: 2000-2005
Mouse Models of CBS Deficient Homocystinuria
Principal Investigator: Jan P. Kraus, PhD
Source: Jerome LeJeune Foundation
Amount: $50,000
Term: 2005-2007
Genetics, Neurobiology and Cognition in Down Syndrome
Principal Investigator: Kenneth N. Maclean, PhD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD45224
Amount: $1,260,305
Term: 2003-2007
Attentional Dysfunction in Fragile X Syndrome
Principal Investigator: Kenneth N. Maclean, PhD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD047029
Amount: $1,049,609
Term: 2003-2008
Rare Liver Disease Network
Principal Investigator: Ronald J. Sokol, MD
Co-Investigator: Johan Van Hove, MD, PhD
Source: National Institutes of Health - U54 RR019455
Amount: $4,700,000
Term: 2004-2009
Genetic Studies of Human Pigmentation Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - AR039892
Amount: $465,433/yr
Term: 2001-2006
Mapping of Vitiligo Susceptibility Genes
Principal Investigator: Richard A. Spritz, MD
Co-Investigator: Pamela R. Fain, PhD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - 5R01AR045584-06
Amount: $547,668/yr
Term: 2004-2009
Gene Discovery for Craniofacial Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Dental and Craniofacial Research - DE015191
Amount: $375,154/yr
Term: 2003-2007
Missing Mutations in Oculocutaneous and Ocular Albinism
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Eye Institute - EY015626
Amount: $285,409/yr
Term: 2004-2007
Development of Center of Excellence for Lysosomal Storage Disease
Principal Investigators: Matthew R. G. Taylor, MD, and Janet A. Thomas, MD
Source: Genzyme Therapeutics
Amount: $68,000/yr
Term: 2003-2006
Iduronate-2-Sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPSII): TKT - Clinical Protocol No. TKT024Ext
Principal Investigator: Janet A. Thomas, MD
Source: Transkaryotic Therapies, Inc.
Amount: $51,7620
Term: 2005-2007
Natural History of Recombinant 8 Syndrome
Principal Investigator: Chun-Hui (Anne) Tsai, MD, MSc
Source: Mountain States Genetic Network
Amount: $30,000
Term: 2005-2006
2003-2004
Aged Forebrain Cholinergic Neurons: Estrogen and NGF
Co-Investigator: Linda S. Crnic, PhD
Source: National Institutes of Health, National Institute of Aging - AG12122
Amount: $1,213,670/yr
Term: 2000-2003
Program Project Grant - Somatic Cell Genetic Studies of Down Syndrome
Principal Investigator: David Patterson, PhD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD17449
Term: 1997-2003
- Behavioral Assessment Core
Principal Investigator: Linda S. Crnic, PhD
Amount: $552,750
- Project 7: Behavioral Analysis of a Mouse Model of Down Syndrome
Principal Investigator: Linda S. Crnic, PhD
Amount: $700,827
Video Analysis System for Home Cage Behavior
Co-Investigator: Linda S. Crnic, PhD
Source: National Institutes of Health, National Institute of Mental Health - MH58964
Amount: $53,448
Term: 2000-2003
Treatment of a Mouse Model of Fragile X Syndrome with MPEP
Principal Investigator: Linda S. Crnic, PhD
Source: Fragile X Association
Amount: $49,000
Term: 2003-2004
Glutaryl-CoA Dehydrogenase and Neurologic Disease
Principal Investigator: Frank E. Frerman, PhD
Source: National Institute of Neurological Disorders and Stroke - NS39339
Amount: $1,064,286
Term: 1999-2003
Genetic Biochemical Disorders in Mental Retardation
Program Director and Principal Investigator: Stephen I. Goodman, MD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD08315
Amount: $6,113,976
Term: 2000-2005
- The Biochemical and Molecular Basis of ETF-QO Deficiency
Principal Investigator: Frank E. Frerman, PhD
- The Biochemical and Molecular Bases of Glutaric and D-2-Hydroxyglutaric Acidemia
Principal Investigator: Stephen I. Goodman, MD
- The Molecular Biology of ATMI, a Putative Mitochondrial Iron Transporter
Principal Investigator: David M. Koeller, MD
- The Molecular Basis of CBC Disorders in Human Disease
Principal Investigator: Jan P. Kraus, PhD
- The Molecular Basis of Propionic Acidemia
Principal Investigator: Jan P. Kraus, PhD
Center for Research in Mental Retardation (supports tissue culture, molecular biology, enzyme and molecular diagnostic, mass spectrometry, animal behavior, human subjects recruitment and evaluation and developmental neuropsychology core facilities)
Program Director: Stephen I. Goodman, MD
Core Director of Tissue Culture: Stephen I. Goodman, MD
Core Director of Molecular Biology: Jan P. Kraus, PhD
Core Directors of Enzyme and Molecular Diagnosis: Frank E. Frerman, PhD, and Elaine B. Spector, PhD
Core Director of Chemistry/Mass Spectrometry: Paul V. Fennessey, PhD
Core Director of Animal Housing and Assessment: Stephen I. Goodman, MD
Core Director of Human Subjects Recruitment and Evaluation: Randal Ross, MD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD04024
Amount: $4,976,931
Term: 2003-2008
Homocysteine and Thrombosis
Principal Investigator: Jan P. Kraus, PhD
Source: National Heart, Lung and Blood Institute - HL65217
Amount: $566,250
Term: 2000-2005
Genetics, Neurobiology and Cognition in Down Syndrome
Principal Investigator: Kenneth N. Maclean, PhD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD45224
Amount: $1,260,305
Term: 2003-2007
Attentional Dysfunction in Fragile X Syndrome
Principal Investigator: Kenneth N. Maclean, PhD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD047029
Amount: $1,049,609
Term: 2003-2008
Treatment of Cystathionine Beta Synthase Knockout Mice with Cystatyionine: A New Essential Amino Acid?
Principal Investigator: Kenneth N. Maclean, PhD
Source: The Children's Hospital Research Institute #6703
Amount: $30,000
Term: 2002-2004
Mapping of Vitiligo Susceptibility Genes
Principal Investigator: Richard A. Spritz, MD
Co-Investigator: Pamela R. Fain, PhD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - AR045584
Amount: $544,954/yr
Term: 2004-2009
Genetic Studies of Human Pigmentation Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - AR039892
Amount: $465,433/yr
Term: 2001-2006
Gene Discovery for Craniofacial Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Dental and Craniofacial Research - DE015191
Amount: $375,154/yr
Term: 2003-2007
Missing Mutations in Oculocutaneous and Ocular Albinism
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Eye Institute - EY015626
Amount: $285,409/yr
Term: 2004-2007
Denver Autoimmunity Center of Excellence
Principal Investigator: Michael Holers, MD
Basic Project III: Genetic Analysis of Autoimmune Polyendocrine Syndrome-II
Principal Investigator: Richard A. Spritz, MD
Co-Investigator: Pamela R. Fain, PhD
Source: National Institutes of Health, National Institute of Allergy and Infectious Diseases - U19-AI46374
Amount: $150,000/yr
Term: 2003-2008
Development of Center of Excellence for Lysosomal Storage Disease
Principal Investigators: Matthew R. G. Taylor, MD, and Janet A. Thomas, MD
Source: Genzyme Therapeutics
Amount: $68,000/yr
Term: 2003-2006
Clinical Experience with 3360 C-3360 in the Dietary Management of Amino Acid Inborn Errors of Metabolism
Principal Investigator: Janet A. Thomas, MD
Source: Mead Johnson and Company
Amount: $2,850 per patient plus $2,000
Term: 2002-2003
The Use of the MiniMed Continuous Glucose Monitoring System in the Management of Glycogen Storage Disease, Type IA
Principal Investigator: Janet A. Thomas, MD
Source: MiniMed, Inc.
Amount: Supplying CGMS, sensors and software
Term: 2001-2003
Coenzyme A Metabolism in the Pathophysiology of Fatty Acid Oxidation Disorders
Principle Investigator: Johan L. Van Hove, MD, PhD
Co-Investigators: Jaak Jaeken, MD, PhD, and Hubert Carchon, PhD
Source: Onderzoekstoelage KULeuven (University Research Grant), Belgium
Amount: $182,000
Term: 2000-2003
2001-2002
Age-Related Changes in Ts65Dn Mouse Forebrain and Learning
Principal Investigator: Linda S. Crnic, PhD
Fellow: Lynn Hyde, PhD
Source: National Institutes of Health, National Institute of Aging - 5 F32 AG05866-0151
Amount: $60,000
Term: 1999-2001
Aged Forebrain Cholinergic Neurons: Estrogen and NGF
Co-Investigator: Linda S. Crnic, PhD
Source: National Institutes of Health, National Institute of Aging - AG12122
Amount: $1,213,670/yr
Term: 2000-2003
Center for Research in Mental Retardation (supports tissue culture, animal behavior, molecular biology and developmental neuropsychology core facilities of the center)
Program Director: Linda S. Crnic, PhD
Core Directors of Cell Biology: Stephen I. Goodman, MD, and Jan P. Kraus, PhD
Core Directors of Enzyme and Molecular Diagnosis: Frank E. Frerman, PhD, and Elaine Spector, PhD
Principal Investigator of Chemistry/Mass Spectrometry Core: Paul V. Fennessey, PhD
Principal Investigator of Animal Housing and Assessment Core: Linda Crnic, PhD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD04024
Amount: $3,819,647
Term: 1998-2003
Program Project Grant - Somatic Cell Genetic Studies of Down Syndrome
Principal Investigator: David Patterson, PhD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD17449
Term: 1997-2003
- Behavioral Assessment Core
Principal Investigator: Linda S. Crnic, PhD
Amount: $552,750
- Project 7: Behavioral Analysis of a Mouse Model of Down Syndrome
Principal Investigator: Linda S. Crnic, PhD
Amount: $700,827
Video Analysis System for Home Cage Behavior
Co-Investigator: Linda S. Crnic, PhD
Source: National Institutes of Health, National Institute of Mental Health - MH58964
Amount: $53,448
Term: 2000-2003
Glutaryl-CoA Dehydrogenase and Neurologic Disease
Principal Investigator: Frank E. Frerman, PhD
Source: National Institute of Neurological Disorders and Stroke - NS39339
Amount: $254,518/yr
Term: 1999-2003
Genetic Biochemical Disorders in Mental Retardation
Program Director and Principal Investigator: Stephen I. Goodman, MD
Source: National Institutes of Health, National Institute of Child Health and Human Development - HD08315
Amount: $6,113,976
Term: 2000-2005
- Mass Spectrometry Core
Principal Investigator: Paul V. Fennessey, PhD
- The Biochemical and Molecular Basis of ETF-QO Deficiency
Principal Investigator: Frank E. Frerman, PhD
- The Biochemical and Molecular Bases of Glutaric and D-2-Hydroxyglutaric Acidemia
Principal Investigator: Stephen I. Goodman, MD
- The Molecular Biology of ATMI, a Putative Mitochondrial Iron Transporter
Principal Investigator: David M. Koeller, MD
- The Molecular Basis of CBC Disorders in Human Disease
Principal Investigator: Jan P. Kraus, PhD
- The Molecular Basis of Propionic Acidemia
Principal Investigator: Jan P. Kraus, PhD
Denver Autoimmunity Center of Excellence
Principal Investigator: Brian L. Kotzin, MD
Co-Investigator: Pamela R. Fain, PhD
Basic Project III: Genetic Analysis of Autoimmune Polyendocrine Syndrome-II
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Allergy and Infectious Diseases - U19-AI46374
Amount: $796,370
Term: 1999-2004
Homocysteine and Thrombosis
Principal Investigator: Jan P. Kraus, PhD
Source: National Heart, Lung and Blood Institute - HL65217
Amount: $75,000/yr
Term: 2000-2005
Genetic Studies of Human Pigmentation Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - AR39892
Amount: $3,313,328
Term: 1996-2005
Genetic Studies of Margarita Island Ectodermal Dysplasia
Principal Investigator: Richard A. Spritz, MD
Source: National Foundation for Ectodermal Dysplasias
Amount: $45,000
Term: 1999-2001
Genetic Studies of Margarita Island Ectodermal Dysplasia
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Dental and Craniofacial Research - DE13571
Amount: $209,275
Term: 1999-2002
Mapping of Vitiligo Susceptibility Genes
Principal Investigator: Richard A. Spritz, MD
Co-Investigator: Pamela R. Fain, PhD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - AR45584
Amount: $1,436,489
Term: 1999-2003
Chromosome 22q Deletion Testing: Investigation of Clinical Predictive Factors
Principal Investigator: Janet A. Thomas, MD
Co-Investigator: Matthew R. G. Taylor, MD
Source: Mountain States Regional Genetics Services Network, Research and Development - 00-182
Amount: $1,490
Term: 2001
Clinical Experience with 3360 C-3360 L in the Dietary Management of Amino Acid Inborn Errors of Metabolism
Principal Investigator: Janet A. Thomas, MD
Source: Mead Johnson and Company
Amount: $2,850 per patient plus $2,000
Term:2002-2003
Does Twinning Influence the Reliability of the Thyroid NBN Screening Test?
Principal Investigator: Janet A. Thomas, MD
Source: Pediatric General Clinical Research Center
Biochemical and Clinical Investigations of Inborn Errors of Metabolism
Principal Investigator: Janet A. Thomas, MD
Source: Mead Johnson and Company
Investigation of Hyphenylalaninemia and Phenylketonuria
Principal Investigator: Janet A. Thomas, MD
Epidemiological Study of the Natural History of Fabry Disease (AGAL 014-01)
Principal Investigator: Janet A. Thomas, MD
Source: Genzyme Corporation - 01-582
Amount: $3,528
Term: 2001
Epidemiologic Study of the Natural History of Infantile Pompe Disease
Principal Investigator: Janet A. Thomas, MD
Source: Genzyme Corporation
Amount: $1,800
Term: 2002
Fabry International Research Exchange (FIRE). A Registry of Fabry Disease: A Multicenter, Longitudinal, Observational Study
Principal Investigator: Janet A. Thomas, MD
Source: Transkaryotic Therapies, Inc. - 01-846
Amount: $3,500 per patient per year
Term: 2001
Investigation of Growth Hormone Deficiency in Patients with Organic Acidemia and Short Stature
Principal Investigator: Janet A. Thomas, MD
Source: Eli Lilly Company - 00-1121
Amount: $20,000
Term: 2001
A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study of the Safety and Efficacy of Recombinant Human A-Galactosidase A (R-HAGAL) on Progression of Renal Disease and Significant Clinical Events in Patients with Fabry Disease (AGAL-008)
Principal Investigator: Janet A. Thomas, MD
Co-Investigator: Matthew R. G. Taylor, MD
Source: Genzyme Corporation - 01-606
Amount: $104,327 per patient for two years
Term: 2001
The Use of the MiniMed Continuous Glucose Monitoring System in the Management of Glycogen Storage Disease, Type IA
Principal Investigator: Janet A. Thomas, MD
Source: MiniMed, Inc.
Amount: Supplying CGMS, sensors and software
Term: 2001-2003
A Prospective, Multinational, Multicenter, Clinical Trial of the Safety and Efficacy of Recombinant Human Acid alpha-Glucosidase (Rhgaa) in Cross-Reacting Immunologic Material Positive (Crim(+)) Patients with Classical Infantile Pompe Disease
Principal Investigator: Chun-Hui (Anne) Tsai, MD
Co-Investigator: Janet A. Thomas, MD
Source: Genzyme Corporation - 01-585
Amount: $42,572 per patient per year
Term: 2001
1999-2000
Reference Guide for Hyperphenylalaninemia
Principal Investigators: Laurie Bernstein, MS, RD, FADA, and Cindy Freehauf, RN, MS
Source: Scientific Hospital Supplies, Inc.
Amount: $5,000
Term: September 1998-September 1999
Growth, Tolerance, Plasma Amino Acids and Plasma Biochemistries of Infants and Toddlers with Urea Cycle Disorders
Principal Investigator: Laurie Bernstein, MS, RD, FADA
Source: Ross Laboratories Collaborative Study
Amount: $900
Term: June 1999-June 2000
Diet Intervention for the Late-Treated Adult with PKU
Principal Investigator: Laurie Bernstein, MS, RD, FADA
Source: Ross Laboratories
Amount: $1,500
Term: 1998-1999
Center for Research in Mental Retardation
Program Director: Stephen I. Goodman, MD
Core Directors: Frank E. Frerman, PhD, and Jan Kraus, PhD
Principal Investigator: Analytical Core: Paul V. Fennessey, PhD
Principal Investigator: Animal Housing and Assessment Core: Linda Crnic, PhD
Source: National Institute of Child Health and Human Development
Amount: $624,654/yr
Term: August 1998-July 2003
Center Grant for Research in Mental Retardation (supports tissue culture, animal behavior, molecular biology and developmental neuropsychology core facilities of the center)
Program Director: Stephen I. Goodman, MD
Source: National Institute of Child Health and Human Development
Amount: $3,819,647
Term: August 1998-July 2003
Genetic Biochemical Disorders in Mental Retardation
Program Director: Stephen I. Goodman, MD
Source: National Institute of Child Health and Human Development
Amount: $764,824/yr
Term: May 2000-April 2005
- Biochemical and Molecular Bases of Glutaric and D-2-Hydroxyglutaric Acidemia
Principal Investigator: Stephen I. Goodman, MD
- Molecular Biology of ATMI, A Putative Mitochondrial Iron Transporter
Principal Investigator: David M. Koeller, MD
- Biochemical and Molecular Basis of ETF-QO Deficiency
Principal Investigator: Frank E. Frerman, PhD
- The Molecular Basis of CBC Disorders in Human Disease
Principal Investigator: Jan P. Kraus, PhD
- The Molecular Basis of Propionic Acidemia
Principal Investigator: Jan P. Kraus, PhD
Program Project Grant - Somatic Cell Genetic Studies of Down Syndrome: Behavioral Assessment Core
Principal Investigator: Linda S. Crnic, PhD
Source: National Institute of Child Health and Human Development
Amount: $552,750
Term: January 1997-December 2002
Program Project Grant - Somatic Cell Genetic Studies of Down Syndrome: Behavioral Characterization of a Mouse Model of Down Syndrome
Principal Investigator: Linda S. Crnic, PhD
Source: National Institute of Child Health and Human Development
Amount: $700,827
Term: January 1997-December 2002
Brain Effects of Interferon-Alpha
Principal Investigator: Linda S. Crnic, PhD
Source: National Institute of Mental Health
Amount: $326,319
Term: July 1996-June 2000
Aged Forebrain Cholinergic Neurons: Estrogen and NGF
Co-Investigator: Linda S. Crnic, MD
Source: National Institute of Aging
Amount: $1,213,670
Term: August 2000-July 2005
Digital Video Analysis System for Home Cage Behavior
Co-Investigator: Linda S. Crnic, PhD
Source: National Institute of Mental Health
Amount: $53,448
Term: August 2000- July 2003
Development of Maladaptive Behavior
Co-Investigator, Co-Director and Acting Director: Linda S. Crnic, PhD
Source: National Institute of Mental Health
Amount: $1,051,991
Term: July 1996-June 2000
Training in Human Medical Genetics
Program Faculty: Linda S. Crnic, PhD
Source: National Institute of Child Health and Human Development
Amount: $105,842
Term: June 1996-July 2001
Glutaryl-CoA Dehydrogenase and Neurologic Disease
Principal Investigator: Frank E. Frerman, PhD
Source: National Institute of Neurological Disorders and Stroke
Amount: $254,518/yr
Term: December 1999 -November 2003
Research in Pediatric Diseases
Principal Investigator: Frank E. Frerman, PhD
Source: The Children's Hospital Research Institute
Amount: $50,000/yr
Term: November 1999 -October 2000
Characterization of a Mitochondrial Iron Transport
Principal Investigator: David M. Koeller, MD
Source: The Children's Hospital Research Institute
Amount: $10,000/yr
Term: August 1998-July 1999
Denver Autoimmunity Center of Excellence
Principal Investigator: Brian L. Kotzin, MD
Basic Project III: Genetic Analysis of Autoimmune Polyendocrine Syndrome-II
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Allergy and Infectious Diseases - U19-AI46374
Amount: $796,370
Term: August 1999-July 2004
Homocysteine and Thrombosis
Principal Investigator: Jan P. Kraus, PhD
Source: National Heart, Lung and Blood Institute
Amount: $75,000/yr
Term: September 2000-August 2005
Mental Retardation Research Center Core Grant
Principal Investigator of Chemistry/Mass Spectrometry Core: Paul V. Fennessey, PhD
Source: National Institutes of Health
Amount: $4,099,309
Term: May 2000-April 2005
Genetic Studies of Human Pigmentation Disorders
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - AR39892
Amount: $1,374,774
Term: June 1996-May 2001
Mapping of Vitiligo Susceptibility Genes
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Arthritis, Musculoskeletal and Skin Diseases - AR45584
Amount: $1,436,489
Term: September 1999-August 2003
Gene Mapping of Ectodermal Dysplasias
Principal Investigator: Richard A. Spritz, MD
Source: March of Dimes Birth Defects Foundation - #1-FY98-0427
Amount: $108,036
Term: June 1998-May 2000
Genetic Studies of Margarita Island Ectodermal Dysplasia
Principal Investigator: Richard A. Spritz, MD
Source: National Foundation for Ectodermal Dysplasias
Amount: $45,000
Term: July 1999-June 2001
Genetic Studies of Margarita Island Ectodermal Dysplasia
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Institute of Dental and Craniofacial Research - DE13571
Amount: $209,275
Term: December 1999-November 2002
A Genechip Instrument System for Gene Mapping Core Facility
Principal Investigator: Richard A. Spritz, MD
Source: National Institutes of Health, National Center for Research Resources
Amount: $175,000
Term: April 1999-March 2000
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