Genetic Analysis Examining Cleft Lip and Palate Conditions Extensively

New Study Reveals Five New Genetic Regions Linked to Cleft Lip and Palate

A groundbreaking international study, led by the University of Bonn and funded by the German Research Foundation (DFG, LU 1944-3/1), has provided new insights into the genes affected by cleft lip and palate. The research, published in the journal Human Genetics and Genomics Advances with the DOI: https://doi.org/10.1016/j.xhgg.2021.100038, involves universities from Manchester, Cologne, Pittsburgh, Connecticut, Johns Hopkins University in Baltimore, Emory University in Atlanta, the University of Cantabria, and the University of Bonn.

Cleft lip and palate, one of the most common congenital malformations, is mainly caused by genetic factors. The study found that some of the genetic changes affect regulatory DNA sequences during early facial development of the embryo, which can increase or decrease the activity of certain genes, disrupting the finely balanced activity pattern of genes that play a role in error-free facial development.

The study discovered five new regions in the human genome in which variations in the DNA sequence are associated with an increased risk of cleft lip and palate. These genetic regions, all within the non-coding regions of DNA, are largely not yet understood by science. This discovery brings the total known risk regions to 45.

Dr. Kerstin U. Ludwig, the Emmy-Noether Gruppenleiterin at the Institut für Humangenetik, Universitätsklinikum Bonn, led the study. She can be contacted at +49-228-6885420 or [email protected]. Dr. Julia Welzenbach, also at the Institut für Humangenetik, Universitätsklinikum Bonn, was also involved in the research. She can be contacted at +49-228-6885435 or [email protected].

The researchers combined various data sources in their work to identify these new genetic regions. The search results do not provide the names of additional universities or research institutions involved in the international research project on cleft lip and palate.

This study represents a significant step forward in understanding the genetic basis of cleft lip and palate, paving the way for future research and potential treatments for this common birth defect.