• Rare Disease News
  • [email protected]
Facebook-f Instagram Linkedin-in Pinterest Twitter
  • About
    • Meet Our Contributors
    • Meet Our Partners
    • Meet Our Team
    • Collaborative Content On Patient Worthy
    • Contact Us
  • Diseases
  • Share Your Story
    • Patient Worthy Content Submission Guidelines
    • Patient Worthy Writing Prompts
    • Submit Your Story
    • Patient Stories
  • Resources
    • Library
    • Memes
    • Events
    • Patient Worthy FAQs
  • Listen
  • Languages
    • Spanish / Español
    • Russian / русский
    • French / Français
  • Log In
Menu
  • About
    • Meet Our Contributors
    • Meet Our Partners
    • Meet Our Team
    • Collaborative Content On Patient Worthy
    • Contact Us
  • Diseases
  • Share Your Story
    • Patient Worthy Content Submission Guidelines
    • Patient Worthy Writing Prompts
    • Submit Your Story
    • Patient Stories
  • Resources
    • Library
    • Memes
    • Events
    • Patient Worthy FAQs
  • Listen
  • Languages
    • Spanish / Español
    • Russian / русский
    • French / Français
  • Log In
  • Join PW

Pitt-Hopkins Syndrome

Home » Pitt-Hopkins Syndrome
A New Study Finds That Gene Therapy May Prevent or Reverse Pitt-Hopkins Syndrome

A New Study Finds That Gene Therapy May Prevent or Reverse Pitt-Hopkins Syndrome

  • Post author:Rose Duesterwald
  • Post published:June 21, 2022
  • Post category:Pitt-Hopkins Syndrome

In normal development, genes are usually inherited in pairs - with one copy from the father and one inherited from the mother. When one copy of the TCF4 gene, which…

Continue Reading A New Study Finds That Gene Therapy May Prevent or Reverse Pitt-Hopkins Syndrome
The Pitt Hopkins Family Conference & Scientific Symposium is Coming June 2022

The Pitt Hopkins Family Conference & Scientific Symposium is Coming June 2022

  • Post author:Trudy Horsting
  • Post published:January 18, 2022
  • Post category:Pitt-Hopkins Syndrome

The Pitt Hopkins Family Conference & Scientific Symposium (PHRF Conference) will be held June 23rd through June 25th, 2022 in Chicago to raise awareness and share research updates for Pitt…

Continue Reading The Pitt Hopkins Family Conference & Scientific Symposium is Coming June 2022
The AI Revolution in Rare Disease Drug Discovery

The AI Revolution in Rare Disease Drug Discovery

  • Post author:Rose Duesterwald
  • Post published:October 31, 2019
  • Post category:CDKL5/Fragile X Syndrome/N-Glycanase (NGLY 1) Deficiency/Pitt-Hopkins Syndrome

A recent announcement by Atomico, one of Europe’s largest venture capital firms based in London, introduced its new partner Healx. The startup can boast of having the world’s most comprehensive…

Continue Reading The AI Revolution in Rare Disease Drug Discovery
Rare Diseases: A Catch 22 Dilemma

Rare Diseases: A Catch 22 Dilemma

  • Post author:Rose Duesterwald
  • Post published:October 28, 2019
  • Post category:Batten Disease/Chagas disease/Ebola/Fragile X Syndrome/Pitt-Hopkins Syndrome/Spinal Muscular Atrophy

  A guest speaker at the 2019 Rare Disease Forum recently held at the North Carolina Biotechnology Center acknowledged that screening is necessary to justify the need for a particular…

Continue Reading Rare Diseases: A Catch 22 Dilemma
Editor’s Choice: Reflecting On What Matters Most This Christmas

Editor’s Choice: Reflecting On What Matters Most This Christmas

  • Post author:Patient Worthy Contributor
  • Post published:December 22, 2017
  • Post category:CGD/Cystinosis/Mitochondrial Disease/Pitt-Hopkins Syndrome/Rare Disease

 Happy Holidays, Patient Worthians! As we celebrate the holidays this year, we take a moment to reflect on the things that matter most deeply to us. This week, we have…

Continue Reading Editor’s Choice: Reflecting On What Matters Most This Christmas
Parents of Diseased Boy with Pitt-Hopkins Syndrome Hope to See Him Walk
Source: Pixabay

Parents of Diseased Boy with Pitt-Hopkins Syndrome Hope to See Him Walk

  • Post author:Andres Rovira
  • Post published:December 15, 2017
  • Post category:Pitt-Hopkins Syndrome

Xander Williamson is among 600 people in the world, and merely 11 people in Australia, to have Pitt-Hopkins syndrome. His mother Melissa had no idea she would be returning from…

Continue Reading Parents of Diseased Boy with Pitt-Hopkins Syndrome Hope to See Him Walk
Orangeville Boy Lives Life to the Fullest with Rare Disease
Source: Pixabay

Orangeville Boy Lives Life to the Fullest with Rare Disease

  • Post author:Andres Rovira
  • Post published:September 25, 2017
  • Post category:Pitt-Hopkins Syndrome/Rare Disease

What would you do if your child was born with a rare neurological disease? So was the case for a small town boy. In Orangeville, Ontario, Ryder Ouderkirk lives with…

Continue Reading Orangeville Boy Lives Life to the Fullest with Rare Disease

OF INTEREST


XLH Image


X-Linked Hypophosphatemia: Unnderstanding this Hereditary, Progressive, and Lifelong Condition


podcast setup on a desk


Catalyst’s LEMS Aware Podcast Helps Connect Patients

Patient Stories

STUDY OF THE WEEK

Welcome to Study of the Week. We go in-depth and select a study we think is of particular interest, discussing details, explaining its importance, who may be impacted and lots more!

READ MORE

RARE CLASSROOM

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about.

READ MORE
We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.
Our goals are to share stories, cultivate strong community, provide the latest medical findings, connect people and pioneer production of patient worthy information. Help us attain these goals by telling us a little bit about yourself!

Let’s Work Together!

Partner With Us
Submit a Story
Become a Contributor

Keep Up to Date

Subscribe to Our Newsletter
Check Out Rare Events
Get Inspired By Our Memes

Learn More

About Us
Rare Diseases and Conditions
Terms of Use
Privacy Policy
Privacy Policy for CA Residents
EU Privacy Notice

© Copyright Patient Worthy

Sign Up With a Patient Worthy Account and Share Your Rare Story

- OR -

Sign Up For Our Patient Panel

Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.

More Info

We're Happy You're Here!

What best describes you when it comes to rare disease? (check all that apply)

What rare disease(s)/conditions are most important to you?

Visit Home Page or

Thank you for signing up for a Patient Worthy Account!

Have a rare disease story to share? Let us know

Share Story

- OR -

Sign Up For Our Patient Panel

Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.

More Info