Genetic Identification allows for Possible Treatment for Pediatric Gene Malfunction

 

Cassidy DeMasi

November 22^nd, 2025

Dr. Barbato

Genetic Identification allows for Possible Treatment for Pediatric Gene Malfunction 

Noonan syndrome is a genetic disorder that causes several odd characteristics within the human body. The syndrome is typically characterized by wide-set eyes, drooping eyelids, low-set and backward-rotated ears, a broad forehead, a short neck, and a short stature. When facing a patient with Noonan’s, lentigines can also be observed on their skin, especially in the neck region. The hidden issue with Noonan’s Syndrome is heart defects caused by thickening and bleeding problems. Noonan’s specifically is a "heterozygous pathogenic variant that occurs in some different genes. Newborns, specifically those with thickening of the heart muscle, often do not survive past 6 weeks. Their heart is not strong enough to counteract the effects that thickening causes.

Researchers have recently discovered, using genetics, that a pre-existing drug could potentially reduce the effects of a genetic mutation. Researchers discovered that "when mutated in NSML, SHP2 binds to another protein and recruits another enzyme called c-Src, a tyrosine kinase" (Mahima Samraik, MS 2025).  This malfunction causes proteins that turn a gene on or off to be unreasonably higher, which affects normal heart development. However, knowing this, researchers made the correlation that the BMP10 levels could potentially be reduced by a drug used to help treat leukemia. The article states, "researchers found that very low doses of dasatinib returned BMP10 levels in NSML mice to normal levels. By inhibiting c-Src, dasatinib prevented the transcription factors from becoming overly active, essentially counteracting the effect of the mutated gene implicated in NSML,"(Mahima Samraik, MS 2025). This understanding could potentially allow a genetically proven, science-backed prevention of the problem that could claim a newborn's life. The features are not the problem with Noonan's, but a Mother and Father should not have to bury their baby. 

Sources 

pathogenic variant - GeneReviews® - NCBI Bookshelf. (2025). Nih.gov. https://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/pathogenic-variant

University of Oxford. (2023, March 14). Global study shows the experience of Endometriosis is rooted in genetics | University of Oxford. Www.ox.ac.uk. https://www.ox.ac.uk/news/2023-03-14-global-study-shows-experience-endometriosis-rooted-genetics