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. 

 

 

 

Find Answers & Improve Patient Care

Ambry is committed to delivering the most accurate genetic test results possible. Learn more about our products today.

Love this article?

Get stories just like it, delivered right to your inbox.



Author

DISCLAIMER: THIS BLOG DOES NOT PROVIDE MEDICAL ADVICE

The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.