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Pitt-Hopkins Syndrome

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A New Study Finds That Gene Therapy May Prevent or Reverse Pitt-Hopkins Syndrome
source: shutterstock.com

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

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