A real campaign. A race against time.
Together for Giulia
And for all children affected by Pallister-Killian syndrome.
Project PKS — Research on Pallister-Killian syndrome
Our daughter is affected by Pallister-Killian syndrome (PKS), a rare genetic disorder. Today, there is no curative treatment — but there is a real opportunity: to launch scientific research based on human brain cellular models, developed from patient cells, in order to better understand the disease and explore therapeutic strategies in a rigorous and safe way.
For this scientific opportunity to become concrete research, the initial phase funding must be secured.
🎯 Campaign goal: 500,000 USD
➡️ Funding for the initial phase of the research program (three children included in this first stage)
The scientific protocol is defined.
The partner laboratory is ready.
The research can begin.
Giulia’s fight against PKS
This video explains our fight and the urgency of launching scientific research dedicated to PKS.
Why this project exists
Rare diseases may seem to affect only a small number of people. In reality, they affect millions of patients worldwide.
More than 6,000 rare diseases are known today, representing more than 300 million people worldwide. In many cases, they have a major impact on quality of life, with motor, sensory, or intellectual impairments.
In recent years, biomedical research has led to important advances. But for many rare diseases, knowledge remains limited and therapeutic options are still insufficient.
Advancing research takes time, method, and focused projects capable of transforming individual situations into collective progress.
That is the spirit behind this project.
For Giulia — and for millions of other children — time matters. Every month without research is a month without answers.
Photos of Giulia
A few images to get to know Giulia.
Diagnosis: Pallister-Killian syndrome (PKS)
Better understanding PKS is an essential step toward advancing research, opening new perspectives and benefiting all children affected by this condition.
🧬 Diagnosis — Pallister-Killian syndrome (PKS)
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a mosaic chromosomal abnormality (tetrasomy 12p).
It appears in mosaic form, meaning that only some cells carry the abnormality. This makes diagnosis more difficult and explains why each child can be affected differently.
Giulia presents a global developmental impairment, including motor delays, hypotonia, absence of speech, and difficulties with social interaction.
In other children, the syndrome may be associated with more complex manifestations, such as congenital malformations and severe neurological disorders. Conversely, some forms may be milder, illustrating the great variability of Pallister-Killian syndrome.
🧠 Why this research is needed
Although Pallister-Killian syndrome has already been the subject of scientific research, most of it remains descriptive and is rarely focused on evaluating therapeutic strategies.
To date, care is essentially based on supportive treatment, without targeted action on the biological mechanisms of the disease.
This research aims to fill a scientific gap by developing a functional disease model that makes it possible to study its mechanisms and rigorously explore potential therapeutic approaches.
Research using brain organoids
Organoids are human brain models developed from patient cells that faithfully reflect cellular characteristics of the child’s brain, making it possible to study disease mechanisms and evaluate scientific strategies in a rigorous and safe way.
🔬 The research program
Developing a scientific approach for a rare genetic condition is a progressive process, structured in successive stages and guided by the scientific results obtained at each phase.
The program begins with the creation of brain organoids, human brain models developed from cells taken from three children affected by PKS, including Giulia. These models reproduce the genetic abnormality of the disease and make it possible to study, in the laboratory, how the affected brain cells function.
Using these organoids, researchers analyze the biological and neurological mechanisms of PKS in order to understand how cells develop, communicate, and where disease-related alterations appear.
Measurable markers are then identified (cell activity, gene expression, neuronal organization), allowing observed effects to be compared scientifically.
The program also includes the evaluation of scientific strategies directly on these organoids, including modulation of altered biological processes and the evaluation of substances and approaches already described in science, in order to analyze their biological and functional effects.
💰 Budget and long-term vision
The 500,000 USD budget corresponds to the initial phase of the research program.
It makes it possible to begin the experimental work, generate the first scientific results, and determine the possible next steps of the program.
To date, the total estimated cost of taking this program to a potential clinical application is estimated at between 5 and 6 million dollars, structured in successive stages depending on the scientific results obtained.
The continuation of the program will depend exclusively on the scientific results obtained during the initial phase.
Donations
Every donation contributes directly to accelerating the research.
If you cannot donate today, sharing already makes a real difference.
The funds raised are intended for the launch of the initial phase of the research program presented on this site.
Project PKS is a nonprofit association registered in France under the 1901 law. Updates on the progress of the project will be published through official channels.
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Association
Project PKS is a nonprofit association registered in France and governed by the 1901 law.
Its mission is to fund, structure, and accelerate scientific research programs dedicated to Pallister-Killian syndrome (PKS), in order to explore potential therapeutic strategies.
The association focuses exclusively on funding and organizing scientific projects dedicated to PKS.
It is not intended to provide medical or social support, nor a networking service. However, we are happy to respond to families affected by PKS who wish to contribute to the project or share information useful for research.
For families affected by PKS
This project aims to advance research on Pallister-Killian syndrome and open new perspectives for all affected children. It was born from a personal story — Giulia’s story — but is part of a collective and scientific effort. If you are a family affected by PKS and would like to participate or contribute, we would be happy to get in touch with you.
You can write to us directly: