Meet the Gene Team: Jennifer Huang, PhD, presents the Gene of the Month, PTPN4

Meet the Gene Team

The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our third installment, we would like to introduce Jennifer Huang, PhD, Senior Clinical Scientist at Ambry Genetics. blog image

Dr. Jennifer Huang is a Senior Clinical Scientist at Ambry Genetics. She earned her Ph.D. in Biological Sciences from Louisiana State University. During her post-doctoral training at the National Institutes of Health and the University of Maryland School of Medicine, she focused on epigenetics. In 2018, she joined Ambry Genetics as a Clinical Scientist on the exome analysis team. She transitioned to the Gene Team in 2021 and is involved in the curation of gene-disease validity for both well-established and emerging gene-disease relationships with an emphasis on genes involved in neurodevelopmental disorders. 

Watch this video to learn more about Jennifer and what inspires her, the characterization of genes and how her role affects patient care.





The Gene of the Month is PTPN4. Until 2021, this gene wasn’t associated with human disease. Multiple reports in the scientific literature of unrelated patients with pathogenic variants in PTPN4 allowed the gene to be associated with an autosomal dominant neurodevelopmental disorder. Jennifer explains how Ambry’s reclassification process allowed a patient to receive an updated genetic testing report four years after receiving negative test results. 




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