Family genetic research reveals path to potential cure for structural birth defects

Sept. 30, 2021

Centogene N.V. announced the publication of results from a global genetic study in the New England Journal of Medicine. The findings include a potential treatment of structural birth defects caused by specific gene alterations. Structural birth defects, such as cleft palate, occur in approximately 3% of live births worldwide.

The collaborative research study utilized data derived from CENTOGENE’s rare disease-centric Bio/Databank. The analysis revealed that genetic variations affecting a central Wingless-related integration site (Wnt) are secreted factors that regulate cell growth, motility, and differentiation during embryonic development which causes syndromic structural birth defects.

The researchers were able to administer a pharmacologic Wnt agonist that partially restored erroneous embryonic development in preclinical studies. Accordingly, this research is an important step in potentially preventing and curing syndromes and structural birth defects linked to WLS dysfunction.

If this method demonstrates translational robustness, it offers an opportunity for drug developers to capitalize on these insights with a clinical program that could be completed within the next 3-5 years – opening up the potential of bringing a treatment to market and helping a number of the estimated 4 million infants born with serious birth defects every year.

Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, said, “Up until now, the genetic causes of structural birth defects have remained largely unknown. This groundbreaking study has now not only helped us to understand a driving factor of these defects but has shed light on the way to a potential cure – and that is game changing. That is what we are striving for every day.”

Centogene release