What is the ZC4H2 Deficiency
The ZC4H2 Deficiency Research Foundation was started by John and Catherine Paul, the parents of Marie-Louise, a wonderful little girl who is one of the very few diagnosed cases of ZC4H2 Deficiency, an ultra-rare and often severely affecting genetic condition.
John and Catherine are originally from The Netherlands but they have been calling Dubai home for the last 12 years. It is there where both their daughters were born.
Soon after her birth in 2015, Marie-Louise, was diagnosed as having a de-novo partial deletion of the ZC4H2 gene. Like most rare diseases, her condition is unfortunately not enough studied and not well understood.
With limited information about Marie-Louise’s condition, full of unanswered questions and in desperate need of inexistent effective treatments, the Pauls decided to find the answers by themselves. In 2017, the Pauls were introduced to the Orphan Disease Center (ODC) by their dear friends, the founders of the Loulou Foundation, who also have a little daughter with a rare genetic condition. This family was able to start an incredible movement in the scientific world to bring the condition of their daughter to the forefront of scientific and clinic research. Inspired by the extraordinary research efforts started by their friends and encouraged by the ODC, the Pauls decided to create a formal body to support research on ZC4H2: The ZC4H2 Deficiency Research Foundation.
The main purpose of the ZC4H2 Deficiency Research Foundation is to promote and support relevant basic and translational scientific research to find and develop viable therapies for the treatment of ZC4H2 Deficiency.
For this purpose, the Foundation is committed to fund relevant scientific research projects.
Besides the necessary fundraising activities, the Foundation will support the establishment and continuation of those research efforts, identify patients and promote early diagnosis, support the dissemination of information between the patient community and the scientific & medical communities and create general awareness about ZC4H2 Deficiency.
The Foundation partnered with the Orphan Disease Center as its main advisory body for this first event.
In the next 3 years, the Foundation strives to achieve its goals through establishing fundraising activities for allocation of grants to relevant research projects, creating an informative website, funding an open patient registry, organizing scientific and patient meetings and carrying out activities within the community to increase general awareness about ZC4H2 Deficiency.
Note : Establishment of the Foundation is currently ongoing but has not officially yet been completed.