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New genetic study sheds light on how cleft lip and palate forms

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It is not clear why any particular child is born with a cleft lip and palate or not. Researchers have identified various factors that increase the probability and interact with each other. This is called multifactorial development.

One of these factors is genes. Again, the situation is not clear – there is no such thing as “the cleft gene”. It is likely that a combination of genes can play a role – more than 45 genetic segments are known in which “risk variants” can occur. Research on this topic is ongoing and making steady progress.

Researchers at the University of Bonn have now made another step forward. The research group of Dr. Kerstin U. Ludwig (pictured left, photo: Felix Heyder/Andreas Stein/UKB) from the University of Bonn submitted an article for publication (first author: PhD student Hanna Zieger, pictured right), which examines the 98% of genes in 200 cleavage patients that do not themselves directly contain blueprints for proteins.


Proteins are important components of the body whose plans are recorded in the so-called genome, the totality of a person’s genes. However, as mentioned, these plans make up only 2% of the genome. The remaining 98% partially regulate the function of other genes, for other parts of the genome it is not yet known what their function is.

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The study found that in cleft patients, rare new mutations are found in certain sections of the genome that did not exist in the parents of the patients who do not have clefts themselves. For example, docking sites for a protein called musculin, which affects the reading of genes near the docking site, are affected.

The study described is still basic research. The road to a concrete therapy is still long. But the researchers have added new knowledge about the biological mechanisms that contribute to cleft lip and palate.

Perhaps one day, when these mechanisms are fully understood, doctors will be able to find methods to detect the onset of a forming cleft during pregnancy and halt the process so that the child is born without a cleft and does not need surgery at all. But there is still a very long way to go until then. And until then, we will be there for these children.

From our projects
Visit to our cleft treatment project in Pakistan
Helping the children with cleft malformation treated in our cleft treatment project in Karachi live their best lives is the overarching goal of our three-year BMZ funding project. To evaluate the project, a team from Deutsche Cleft Kinderhilfe traveled to Pakistan in early 2023. An exciting trip with intense, touching impressions of the successful work done by our Pakistani partners.
Project visit Sierra Leone
Many people in Sierra Leone are affected by extreme poverty. This also means very poor conditions and little hope for treatment for those who give birth to a child with cleft lip here. Now our long-time volunteer supporters and Africa project leaders, the highly qualified surgeons Dr. Dr. Oliver Blume and Gunther Au-Balbach, visited the country to establish contacts for a new cleft project and to provide care to the first patients.
December 2022: Project visit in Vietnam
Our help for children with cleft lip and palate would be impossible without our network of helpers. In addition to many local surgeons and other medical professionals in the partner countries, this network also includes volunteers who support our local teams with passion and skill. An intercultural exchange that is enriching for both sides. The work in our project country Vietnam has been accompanied since 2016 by the Munich doctors Dr. Denys J Loeffelbein and Dr. Daniel Lonic. In December 2022, the two visited their colleagues and friends in Vietnam again for the first time since the pandemic.
The story of Maui, cleft child from Colombia
Our new project to help children with cleft lip and palate in Colombia begins with a very unusual case. Maui was born with a cleft lip and palate. His parents belong to an indigenous people and do not know how to get him the help he needs. By a happy coincidence, Julia, a Swiss woman living in Colombia, is a neighbor of the family and offers to help. In search of treatment options, she comes across Deutsche Cleft Kinderhilfe.
Video: Impressions from Bolivia
The parents of our cleft children are always full of gratitude. When their child is born with cleft, they often do not know what to make of the malformation, much less that it can be treated. And even if they do - most of our little patients come from the poorest of backgrounds. Their parents could never afford the operation. It is an unimaginable happiness for them to learn that their children can receive qualified treatment, and free of charge even. This wonderful, touching film from our Bolivian aid project captures these special moments of happiness.
Video: Impressions from Pakistan
This film, made for our Pakistani partner organization, the Al-Mustafa Welfare Societey, by the father of one of our patients, shows scenes from our work in Karachi. From here, our senior surgeon Prof. Ashraf Ganatra treats cleft children from poorest families. He operates the children from Karachi at the Al Mustafa Medical Center. In order to reach the many needy families living outside the city, he also regularly heads out to local provincial hospitals to treat cleft patients there.