News2018-10-02

First International Scientific Meeting on ZC4H2 Deficiency

Al Jalila Children’s recently hosted the First International Scientific Meeting on ZC4H2 Deficiency. The step comes in line with Al Jalila Children’s core strategy of positioning itself as a regional and international hub for paediatric medicine research and innovation.

The meeting was organized by John and Catherine Paul, founders of the ZC4H2 Deficiency Research Foundation, and parents of a child that was diagnosed with the same deficiency, and was attended by 14 of the brightest minds and specialists in genomics and rare diseases from around the world, led by Dr. James M. Wilson, MD, PhD, and Director of Orphan Disease Center from the University of Pennsylvania, USA. Dr. Wilson is globally known for his extensive work in the field of gene therapy.

As of today, there are only 47 seven known cases of this ultra-rare deficiency worldwide, 2 of them in the Middle East. There is currently very limited knowledge about the function of the ZC4H2 gene. It is believed that ZC4H2 plays an important role in the development of the neurologic system during the early stages of human development. When a mutation happens in this gene, it can result in multiple disabilities and health concerns, including several muscular and neurological issues. These can include Arthrogryposis Multiplex Congenita (joint contractures), muscular atrophy, difficulties to stand, walk or keep an upright position, difficulties to eat or breathe, joint dislocations, speech difficulties, vision problems, epilepsy and global developmental delay.

An affected child can have the full range of symptoms or only a few of them. Mutations in the ZC4H2 gene can be passed on from a parent to a child (hereditary or inherited) or happen spontaneously (sporadic or ‘de-novo’).

Dr. Mohd Al Awadhi, COO at Al Jalila Children’s commented: “We are very pleased to be hosting this high level scientific meeting, and even more so to support Mr. and Mrs. Paul in their righteous journey to cure their daughter. It is within the DNA of Al Jalila Children’s to push the boundaries of medical research and encourage innovative scientific approaches that can help better the lives of children around the world.”

The meeting was the initiative of Dubai residents, John Paul and Catherine Paul-Fijten, a Dutch couple, parents of a 3 years old girl, who is one of the very few diagnosed children around the world and the only child with this condition in the Middle East. In their search for answers to the many unknowns about their daughter’s health and without an outlook on effective treatments, the Pauls decided to play an active role into finding ways to help her little daughter and other children with this disorder.

Together with their partner and advisor, the Orphan Disease Center, the Pauls successfully gathered a group of renowned scientists and experts from all over the world, with the objective of discussing and determining the way ahead in scientific research to ZC4H2 Deficiency.

Participants of the meeting came from prestigious research institutions in the USA, China, Korea, Belgium and Germany. The Orphan Disease Center, under the leadership of the eminent genetic scientist, Dr. James M. Wilson, MD, PhD, has extensive experience in organizing similar meetings for various rare diseases but it was the first time that anything similar had been done for ZC4H2 Deficiency and in Dubai.

The event was a great success and a roadmap was established for further basic and translational research into this rare condition. Rare diseases play a leading role in innovation and the advancement of medical and pharmaceutical science as they provide opportunities to study extremes of human pathology. Translational research opens possibilities to develop targeted therapies for rare conditions and to address their many challenges, including early diagnostic testing and novel trial designs.
The organizers, John Paul and Catherine Paul-Fijten, believe that the success of this meeting demonstrates the importance of parents and families getting involved and taking an active role. “This is the first step into a long scientific journey of basic and translational research into ZC4H2 Deficiency, which will bring the hope of a cure for this rare condition, not only for our daughter but for all the children living with it, and also, indirectly, for sufferers of other rare diseases as well. What was a dream yesterday is a reality today. We urge all parents of children with rare diseases to become part of the solution.”

Dr. Ahmad Abou Tayoun, who heads up the genetics department at Al Jalila Children’s, attended the meeting. “It’s a great honour for me personally to be among this group of brilliant genomic specialists. We, at Al Jalila Children’s, will always support such initiatives and will seek to play an active role in facilitating similar paediatric scientific gatherings in the future.”

The Pauls are currently setting up a foundation in their home country, the Netherlands, to further support research efforts toward the rare condition that affects their daughter.