- By Meagan Farmer
- Posted December 8, 2023
A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC
At the National Society for Genetic Counselors Annual Conference, I had the chance to sit down with Kelly Minks, MS, CGC. Ms. Minks is a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, with a clinical practice focused on pediatric neurology. She routinely orders exome testing for children with developmental…
- By Catherine Schultz, MS, CGC
- Posted July 18, 2023
Gene of the Month: KCNH5
In 2013, Emma’s parents1 hoped that a new genetic test, whole exome sequencing (WES), would reveal why their 2-year-old daughter developed epileptic encephalopathy. However, when Emma’s WES results were negative, her parents were disappointed. How could they examine the whole exome and not find an answer? For patients with rare genetic disorders…
- By Morgan Turpin, MB(ASCP), CGMBS
- Posted June 8, 2023
Morgan Turpin and Son Shayne Find Connection with Dravet Syndrome Families
Morgan Turpin, MB(ASCP), CGMBS, Technical Systems Manager, is an Ambry Genetics employee who has firsthand knowledge of the benefits of exome testing. Her son Shayne went through a diagnostic odyssey of his own before he was a toddler. Exome testing opened up many possibilities for the family, including an online community and treatment options.…
- By Billy Chen
- Posted December 13, 2017
Finding Answers to Neurological Disorders with Clinical Exome Sequencing
At Ambry, “Finding Answers” is at the core of what we do. We know patients and clinicians depend on us to find answers that help them better understand diseases, and improve outcomes. 2017 has been a busy and productive year for Ambry. In particular, using Ambry’s clinical exome test, ExomeNext, we have been successful in identifying…
- By Billy Chen
- Posted November 15, 2017
Precision Medicine for Epilepsy is Within our Reach
Precision medicine is an emerging healthcare model built on the idea that drugs designed to target precise genetic causes of diseases will be cheaper, safer and most importantly, more effective for patients with a mutation. Although precision medicine applies to all therapeutic areas, the rapid progress in identifying new epilepsy genes represents…
- By Taylor Leigh
- Posted August 15, 2017
Ambry Advances Understanding of Human Disease Through Epilepsy Gene Research
At Ambry, we believe working together is better, that sharing data is essential to finding answers faster. Our scientists embody these beliefs by collaborating with other talented researchers and physicians to understand human disease, most recently in epilepsy genetics. We are proud to have contributed to the clinical research reviewed…
- By Jackie Connor
- Posted November 23, 2016
'The Color Violet' Documentary to Premiere at American Epilepsy Society's Annual Meeting
Ambry is proud to introduce “The Color Violet,” a documentary created in collaboration with the PCDH19 Alliance and UCSF Benioff Children’s Hospital. The film explores the life of a 9-year-old girl, Violet McManus, and her family’s collective journey with PCDH19-related epilepsy. The film also explores the latest available treatments…