Research Funding

Grant Title Grantor Amount Award Date
Sihoun Hahn, MD, PhD
Multiplexed Immune-SRM screening for primary immunodeficiencies National Institute of Health/National Institute of Allergy and Infectious Diseases 2016 - 2020
James T. Bennett, MD, PhD
Burroughs Wellcome Career Award for Medical Scientists $700,000 2016
William B. Dobyns, MD
MEGALENCEPHALY AND SEGMENTAL BRAIN OVERGROWTH IN HUMANS NIH Oct. 1, 2015 - Sept. 30, 2020
J Lawrence Merritt II, MD
An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPB; RAVICTI) in Pediatric Subjects under Two Years of Age with Urea Cycle Disorders (UCDs) (HPN-100-009) Horizon Therapeutics, Inc. April 22, 2015
J Lawrence Merritt II, MD
Development of a Long-term Outcome Study of Newborn Screening for Urea Cycle Disorders (NBS+UCD) Horizon Therapeutics, Inc. Investigator Initiated Study Feb. 5, 2015 - March 31, 2015
Sihoun Hahn, MD, PhD
Newborn Screening for Cystinosis Cystinosis Research Foundation (CRF) 2015 - 2016
Sihoun Hahn, MD, PhD
Hypophosphatasia Prevalence Study Industry Sponsored Study (Alexion) 2015
James T. Bennett, MD, PhD
Pediatric Early Research Career (PERC) award Seattle Children's Research Institute $177,000 2015
Michael J. Bamshad, MD
Genome Analysis of EPIC Cohort CFF May 1, 2014 - April 30, 2016
Sihoun Hahn, MD, PhD
Multiplex Test for Primary Immunodeficiencies by Affinity Column coupled to MS/MS (R56 AI106784-01A1) National Institute of Health/National Institute of Allergy and Infectious Diseases 2014 - 2015
Anita E. Beck, MD, PhD
Genetic Basis of Conductive Deafness UW Institute of Translational Health Sciences $20,000 June 1, 2013 - May 31, 2014
Margaret L P Adam, MD
Fetal Alcohol Syndrome-South Africa $5,000-10,000/year depending on study needs 2013 - 2018
Sihoun Hahn, MD, PhD
Peptide Immunoaffinity enriched LC-MRM-MS analysis for Cystinosis/Wilson Disease (1R21HD069890-01A1) National Institute of Health/National Institute of Child Health and Development, USA 2013 - 2015
Sihoun Hahn, MD, PhD
A Phase 4, Open-Label, Prospective Study in Patients with Pompe Disease to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale Industry Sponsored Clinical Trial (Genzyme) 2012
Stephanie E. Wallace, MD
Academic Enrichment Fund "Effect of active utilization management on the value and cost of genetic testing" 2012 - 2014
Anne V. Hing, MD
Genetic and Developmental Pathways Causing Midfacial Hypoplasia NIH NIDCR $2,278,095 2012 - 2017
Michael J. Bamshad, MD
UW Center for Mendelian Genomics NIH $ Dec. 5, 2011 - Nov. 30, 2019
Heather C. Mefford, MD, PhD
7 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes NIH/NINDS Sept. 30, 2011 - Sept. 30, 2016
Heather C. Mefford, MD, PhD
4 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes NIH/NINDS Sept. 30, 2011 - Sept. 30, 2014
Heather C. Mefford, MD, PhD
3 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes NIH/NINDS Sept. 30, 2011 - Sept. 30, 2016
Michael J. Bamshad, MD
Complete Genome Variation in Africans with Extreme HIV-1 Transmission Phenotypes NIH July 1, 2011 - June 30, 2016
Ian A. Glass, MB ChB, MD
NIH R24HD00836-44 Laboratory of Developmental Biology $474,321 Jan. 31, 2011 - Jan. 31, 2016
Sihoun Hahn, MD, PhD
Development of a cost-effective next-generation sequencing test for mitochondrial disorders and proficiency testing for quality control Mitochondrial Research Guild, USA 2011 - 2013
Sihoun Hahn, MD, PhD
Lysosomal Storage Disorders (LSD) Registries Program Industry Sponsored Registry (Genzyme) 2011
Sihoun Hahn, MD, PhD
MPS VI Clinical Surveillance Program Industry Sponsored Registry (BioMarin) 2011
Sihoun Hahn, MD, PhD
Hunter Outcome Survey: A Global, Multi-Center, Long-Term, Observational Survey of Patients with Hunter Syndrome (Mucopolysaccharidosis II) Industry Sponsored Registry (Shire) 2011
Sihoun Hahn, MD, PhD
HGT-HIT-045: A PhaseI/II Randomized Safety and Ascending Dose Ranging Study of Idursulfase (Intrathecal) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Hunter Syndrome who Demonstrate Evidence of Central Nervous System Involvement and who are Receiving Treatment with Elaprase" Industry Sponsored Clinical Trial (Shire) 2011
Sihoun Hahn, MD, PhD
HGT-HIT-046 An Open-Label Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase in Pediatric Patients with Hunter Syndrome and Cognitive Impairment Industry Sponsored Clinical Trial (Shire) 2011
Daniel A. Doherty, MD, PhD
Joubert Syndrome Biennial Conferences: advancing Translational Ciliopathy Research National Institute of Child Health and Human Development Jan. 1, 2011
Michael J. Bamshad, MD
Developing Capacity for Genomic the National Childrens Study: Genomics and Epigenomics and Ancestry NIH/NICHD Dec. 1, 2010 - Sept. 27, 2012
Michael J. Bamshad, MD
Developing Capacity for Genomic Medicine for the National Childrens Study NIH/NICHD Dec. 1, 2010 - Sept. 27, 2012
J Lawrence Merritt II, MD
Long Term Use of HPN-100 In Urea Cycle Disorders Hyperion Inc. Oct. 5, 2010 - Oct. 14, 2013
Daniel A. Doherty, MD, PhD
Joubert syndrome and related disorders of hindbrain development National Institute of Health July 1, 2010
Heather C. Mefford, MD, PhD
A Genomic Approach to Epilepsy NIH/NINDS $ Feb. 15, 2010 - Jan. 31, 2014
Heather C. Mefford, MD, PhD
Novel Genomic Rearrangements in Developmental Pediatric Disorders Burroughs Wellcome Fund $ Jan. 18, 2010 - Aug. 31, 2016
Margaret L P Adam, MD
Autoimmune Diseases in Pregnancy Study University of California $10,000-20,000/year, depending on study needs 2010 - 2017
Margaret L P Adam, MD
FASER University of New Mexico, Albuquerque $5,000-10,000/year, depending on study needs 2010 - 2016
Sihoun Hahn, MD, PhD
Peptide Fingerprint Analysis for Primary Immunodeficiency National Institute of Health/National Inst of Allergy and Infectious Disease, U.S.A. 2010 - 2012
Anita Beck, MD, PhD
Identifying the Genetic and Molecular Basis of Clubfoot NIH, NICHD $635,580.00 Sept. 30, 2009
Ian A. Glass, MB ChB, MD
3R24HD000836-45S1 Laboratory of Developmental Biology $82,326 Sept. 30, 2009 - Jan. 31, 2011
J Lawrence Merritt II, MD
Longitudinal Study of Urea Cycle Disorders, NIH, NICHD, ARRA Supplement 3U54HD061221-06S1(Batshaw) Sept. 30, 2009 - Sept. 30, 2011
J Lawrence Merritt II, MD
Urea Cycle Disorders Training Grant, OMalley Family Foundation Childrens Research Institute (Batshaw) Sept. 30, 2009 - July 31, 2011
Michael J. Bamshad, MD
Building a Unique National Community Based Twin Repository NIH/NHLBI Sept. 30, 2009 - July 31, 2012
Michael J. Bamshad, MD
Northwest Genomics Center NIH/NHLBI Sept. 30, 2009 - June 30, 2012
Michael J. Bamshad, MD
NHLBI Lung Cohorts Sequencing Project NIH/NHLBI Sept. 30, 2009 - Aug. 31, 2012
J Lawrence Merritt II, MD
A Phase 2, Fixed-Sequence, Open-Label, Switch-Over Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children 617 Years of Age with Urea Cycle Disorders, with a Long-Term Safety Extension (Hyperion Protocol HPN-100-005). FDA Phase II Clinical Study. Hyperion Inc. Aug. 6, 2009 - Aug. 4, 2011
William R.A. Osborne, PhD
Effect of Nutritional Factors on Macrophage Accumulation in Adipose Tissue NIH/NHLBI July 1, 2009 - June 30, 2014
Sihoun Hahn, MD, PhD
Quality Assessment of Mitochondrial Respiratory Chain Complex Enzyme Assays Using C. elegans ACMG/Luminex Grant Award, U.S.A. 2009 - 2010
J Lawrence Merritt II, MD
Randomized Controlled Trial of Adjunct Hypothermia Treatment in Hyperammonemia and Encephalopathy National Institutes of Health R01 grant submission, March 2009 (unfunded) 2009
William Dobyns, MD
Genomic imbalances in autism Autism Speaks $99,000.00 Oct. 1, 2008
Michael J. Bamshad, MD
Northwest Institute of Genetic Medicine Life Sciences Discovery Fund Sept. 3, 2008 - Sept. 2, 2012
William Dobyns, MD
De novo copy number variation and gene discovery in … brain malformations NIH $3,398,407.00 March 1, 2008
William B. Dobyns, MD
ACC: CALLOSAL AGENESIS AS A WINDOW INTO COMMON NEURODEVELOPMENTAL DISORDERS (DE NOVO COPY NUMBER VARIATION AND GENE DISCOVERY IN HUMAN BRAIN MALFORMATIONS) NIH March 1, 2008 - April 30, 2020
Sihoun Hahn, MD, PhD
Next Generation Sequencing for Mitochondrial Disorders Mitochondrial Guild Research, U.S.A. 2008 - 2010
J Lawrence Merritt II, MD
Longitudinal Study of Urea Cycle Disorders, OMalley Family Foundation Childrens Research Institute (Batshaw) $ 2008 - 2014
Michael J. Bamshad, MD
Institute of Translational Health Sciences NIH/MCRR Sept. 17, 2007 - May 31, 2012
Ian A. Glass, MB ChB, MD
Gene Identification in Joubert Syndrome: To identify genetic causes of Joubert syndrome using global expression profiling and SNP mapping University of Washington Royalty Research Fund $37,500 Sept. 1, 2007 - Aug. 31, 2009
Sihoun Hahn, MD, PhD
Development and Validation of Clinical Tests for Mitochondrial Disorders Mitochondrial Guild Research, U.S.A. 2007 - 2009
William Dobyns, MD
J.P. Kennedy Mental Retardation and Developmental Disabilities Center NIH Sept. 15, 2006
William Dobyns, MD
The genetic basis of mid-hindbrain malformations NIH Sept. 15, 2005
Ian A. Glass, MB ChB, MD
Genetic analyses of cerebellar malformations - 1K24 HD046712-01A1 $97,179 Feb. 1, 2005 - Jan. 31, 2010
Michael J. Bamshad, MD
Genetic and Molecular Basis of Congenital Contractures NIH Feb. 1, 2005 - Jan. 31, 2013
Michael J. Bamshad, MD
Utah Center for Birth Defects Research and Prevention CDC Feb. 1, 2005 - Nov. 30, 2012
Michael J. Bamshad, MD
Genetic and Moledular Basis of Congenital Contractures NIH/NICHD Feb. 1, 2005 - June 30, 2017
William B. Dobyns, MD
THE GENETIC BASIS OF DANDY-WALKER AND OTHER MID-HINDBRAIN MALFORMATIONS NIH Dec. 1, 2004 - May 31, 2020
William Dobyns, MD
Molecular characterization of Joubert syndrome NIH April 1, 2004
Sihoun Hahn, MD, PhD
Analysis of ATP7B in screening for Wilson disease National Inst of Diabetes and Digestive and Kidney Disease, U.S.A 2004 - 2005
Ian A. Glass, MB ChB, MD
Genetics of Joubert syndrome and related disorders March of Dimes Endowment for Health Babies, WA Chapter $75,000 Sept. 1, 2002 - Aug. 30, 2004
William Dobyns, MD
Human epilepsy genetics neuronal migration disorders NIH July 1, 2002
Ian A. Glass, MB ChB, MD
Dystrophic epidermolysis bullosa research association (DEBRA) $70,000 Feb. 1, 2000 - Jan. 31, 2002
Ian A. Glass, MB ChB, MD
Role of SHOX in human short stature Royal Children's Hospital Foundation, Brisbane, Australia $40,000 Jan. 1, 1999 - Dec. 31, 2001
Ian A. Glass, MB ChB, MD
Characterize the genetic basis of short statute Royal Children's Hospital Foundation, Brisbane, Australia $50,000 Jan. 1, 1998 - Dec. 31, 1999
Ian A. Glass, MB ChB, MD
Molecular basis of craniofacual disorders Royal Children's Hospital Foundation, Brisbane, Australia $55,000 Jan. 1, 1998 - Dec. 31, 1999
Ian A. Glass, MB ChB, MD
Role of SHOX in Leri Weill syndrome and human stature Royal Children's Hospital Foundation, Brisbane, Australia $165,000 Jan. 1, 1998 - Dec. 31, 2002
Ian A. Glass, MB ChB, MD
Molecular basis of Leri Weill syndrome Royal Children's Hospital Foundation, Brisbane, Australia $51,000 Jan. 1, 1998 - Dec. 31, 2000
Ian A. Glass, MB ChB, MD
2R24HD000836-46 Laboratory of Developmental Biology $377,568 May 1, 1979 - Jan. 31, 2011
Ian A. Glass, MB ChB, MD
PI Laboratory of Developmental Biology $377,568 May 1, 1979 - Jan. 31, 2011
William B. Dobyns, MD
MOSAIC: POST-ZYGOTIC MUTATIONS IN VASCULAR AND LYMPHATIC DEVELOPMENTAL DISORDERS NIH
Angela Sun, MD
Evaluating long-term safety and clinical outcomes of intrathecal Idursulfase-IT in pediatric patients with Hunter syndrome and cognitive impairment Shire Study HGT-HIT-046