HOME
DHPS
What We Know
Associated Symptoms
Genetics Known To Date
Literature Review
What Are We Doing
ABOUT US
Founder’s Story
Board of Directors
Medical & Scientific Advisors
Collaborators
PARENT RESOURCES
Medical
Educational Support & Services
Social Services
ONGOING RESEARCH
Therapeutics: gene therapy
Therapeutics: small molecule activators
Non-invasive DHPS deficiency biomarkers
CELL & ANIMAL MODELS
Patient-derived iPSC and isogenic controls
Patient-derived organoids
DHPS-deficient zebrafish models
Mice carrying DHPS disease variants
Collection of mouse strains carrying patient mutations
Additional hypomorph (missense) strain
Published conditional knock-out line
LONGEVITY & DHPS
ASSOCIATED GROUPS
FACES
Columbia Genetics
Global Genes
Child Neurology Foundation
NORD
CONTACT
Parent Resources
How to navigate the appointments and conversations no one ever wants to have about their child.
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HOME
DHPS
What We Know
Associated Symptoms
Genetics Known To Date
Literature Review
What Are We Doing
ABOUT US
Founder’s Story
Board of Directors
Medical & Scientific Advisors
Collaborators
PARENT RESOURCES
Medical
Educational Support & Services
Social Services
ONGOING RESEARCH
Therapeutics: gene therapy
Therapeutics: small molecule activators
Non-invasive DHPS deficiency biomarkers
CELL & ANIMAL MODELS
Patient-derived iPSC and isogenic controls
Patient-derived organoids
DHPS-deficient zebrafish models
Mice carrying DHPS disease variants
Collection of mouse strains carrying patient mutations
Additional hypomorph (missense) strain
Published conditional knock-out line
LONGEVITY & DHPS
ASSOCIATED GROUPS
FACES
Columbia Genetics
Global Genes
Child Neurology Foundation
NORD
CONTACT