DHPS Foundation
  • 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
 

Medical

Parent Resources



WHEN TO BE CONCERNED

Developmental milestones according to age Read More at CDC.gov.

TALKING TO YOUR PEDIATRICIAN

Tips for your appointment Read More at CDC.gov.

Before your appointment or evaluation Read More at CDC.gov.

PREPARING FOR YOUR NEUROLOGY APPOINTMENT

Pre-visit planning Read More at Brain & Life.

Questions to ask Read More at Brain & Life.

PREPARING FOR YOUR GENETICS APPOINTMENT

What to expect: Read More at National Center for Biotechnology Information.

Types of Testing Available: Read More at National Institutes of Health.

Chromosomal Microarray Testing (The Jackson Laboratory) 

Exome Sequencing (Cincinnati Children’s)

Genome Sequencing (TIME)

 

WHEN TO GET A SECOND OPINION

When? Read More at Parents.com.

How? Read More at My Child Without Limits.

UNDERSTANDING A DIAGNOSIS

What’s next? Read More at ConnectABILITY.com.

Support and self-care Read More at Fraser.org.

BACK TO PARENT RESOURCES

Copyright 2018
Built with love in NY by Studio XIV.
All Rights Reserved.

12030 Sunrise Valley Drive
Suite 450
Reston, VA 20191

ascendstudy@childrens.harvard.edu
EIN 82-4444634

DHPSFoundation.org is a registered 501c(3) public charity registered as the DHPS Foundation.

© 2025 DHPS Foundation.

  • 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